#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
HTR1D	3352	broad.mit.edu	37	1	23519904	23519904	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:23519904G>A	ENST00000374619.1	-	1	1318	c.809C>T	c.(808-810)tCc>tTc	p.S270F	HTR1D_ENST00000314113.3_Missense_Mutation_p.S270F	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	270					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AAAGAGAGGGGAGCCAGCCGA	0.572																																						uc001bgn.2		NaN																	0					0						c.(808-810)TCC>TTC		5-hydroxytryptamine (serotonin) receptor 1D	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						62.0	68.0	66.0					1																	23519904		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23519904G>A	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.809C>T	1.37:g.23519904G>A	ENSP00000363748:p.Ser270Phe						p.S270F	NM_000864	NP_000855	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1319	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	270			Cytoplasmic (By similarity).			Missense_Mutation	SNP	ENST00000374619.1	37	c.809C>T	CCDS231.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766001	0.69878	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.70749	-0.51;-0.51	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.117271	0.64402	D	0.000012	D	0.82815	0.5119	M	0.66378	2.025	0.46725	D	0.999172	P	0.45569	0.861	D	0.63381	0.914	D	0.83975	0.0329	10	0.72032	D	0.01	.	18.0569	0.89366	0.0:0.0:1.0:0.0	.	270	P28221	5HT1D_HUMAN	F	270	ENSP00000313661:S270F;ENSP00000363748:S270F	ENSP00000313661:S270F	S	-	2	0	HTR1D	23392491	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.736000	0.74811	2.522000	0.85027	0.655000	0.94253	TCC		0.572	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1		NM_000864		34	46	0	0	0	0.021022	0	34	46		
CYP4A22	284541	broad.mit.edu	37	1	47603170	47603170	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:47603170G>T	ENST00000371891.3	+	1	44	c.13G>T	c.(13-15)Gtc>Ttc	p.V5F	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.V5F|CYP4A22_ENST00000294337.3_Missense_Mutation_p.V5F	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	5						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGTGTCTCTGTCCTGAGCCC	0.587																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(13-15)GTC>TTC		cytochrome P450, family 4, subfamily A,							95.0	87.0	90.0					1																	47603170		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47603170G>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.13G>T	1.37:g.47603170G>T	ENSP00000360958:p.Val5Phe					CYP4A22_uc009vyo.2_Missense_Mutation_p.V5F|CYP4A22_uc009vyp.2_Missense_Mutation_p.V5F	p.V5F	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			1	64	+			5					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.13G>T	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	g	8.531	0.870903	0.17322	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.73897	-0.79;-0.56;-0.52	2.08	1.13	0.20643	.	4.342940	0.01145	N	0.006296	T	0.68274	0.2983	L	0.54323	1.7	0.09310	N	0.999999	B;P	0.36483	0.182;0.555	B;B	0.35813	0.064;0.211	T	0.49606	-0.8922	10	0.33141	T	0.24	.	3.6033	0.08032	0.1737:0.3002:0.5261:0.0	.	5;5	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	F	5	ENSP00000360957:V5F;ENSP00000360958:V5F;ENSP00000294337:V5F	ENSP00000294337:V5F	V	+	1	0	CYP4A22	47375757	0.017000	0.18338	0.223000	0.23860	0.216000	0.24613	0.052000	0.14163	0.203000	0.20529	0.411000	0.27672	GTC		0.587	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1		XM_208213		43	75	1	0	3.10996e-30	0.01441	4.51249e-30	43	75		
ELAVL4	1996	broad.mit.edu	37	1	50610812	50610812	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:50610812C>T	ENST00000371823.4	+	2	417	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	ELAVL4_ENST00000357083.4_Missense_Mutation_p.L82F|ELAVL4_ENST00000371821.1_Missense_Mutation_p.L70F|ELAVL4_ENST00000448907.2_Missense_Mutation_p.L68F|ELAVL4_ENST00000371827.1_Missense_Mutation_p.L65F|ELAVL4_ENST00000371819.1_Missense_Mutation_p.L70F|ELAVL4_ENST00000371824.1_Missense_Mutation_p.L65F|ELAVL4_ENST00000492299.1_3'UTR	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	65	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ATTCAGGAGTCTCTTCGGGAG	0.433																																						uc001csb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(193-195)CTC>TTC		ELAV-like 4 isoform 1							100.0	96.0	97.0					1																	50610812		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50610812C>T	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.193C>T	1.37:g.50610812C>T	ENSP00000360888:p.Leu65Phe					ELAVL4_uc001cry.3_Missense_Mutation_p.L68F|ELAVL4_uc001crz.3_Missense_Mutation_p.L65F|ELAVL4_uc001csa.3_Missense_Mutation_p.L82F|ELAVL4_uc001csc.3_Missense_Mutation_p.L65F|ELAVL4_uc009vyu.2_Missense_Mutation_p.L70F|ELAVL4_uc010omz.1_Missense_Mutation_p.L70F	p.L65F	NM_021952	NP_068771	P26378	ELAV4_HUMAN			2	461	+			65			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.193C>T	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389193	0.82902	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.50326	0.1609	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.999;0.997;0.997;0.996;0.996;0.997	T	0.40059	-0.9583	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	70;70;65;65;82;65;68	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	F	68;65;82;65;65;70;70	ENSP00000399939:L68F;ENSP00000360892:L65F;ENSP00000349594:L82F;ENSP00000360889:L65F;ENSP00000360888:L65F;ENSP00000360886:L70F;ENSP00000360884:L70F	ENSP00000349594:L82F	L	+	1	0	ELAVL4	50383399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.945000	0.63568	2.941000	0.99782	0.655000	0.94253	CTC		0.433	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1		NM_021952		13	78	0	0	0	0.003163	0	13	78		
COL11A1	1301	broad.mit.edu	37	1	103461428	103461428	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:103461428C>A	ENST00000370096.3	-	28	2644	c.2332G>T	c.(2332-2334)Ggt>Tgt	p.G778C	COL11A1_ENST00000353414.4_Missense_Mutation_p.G739C|COL11A1_ENST00000358392.2_Missense_Mutation_p.G790C|COL11A1_ENST00000512756.1_Missense_Mutation_p.G662C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	778	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTTTCACCTTTAGATCCC	0.269																																						uc001dul.2		NaN																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2332-2334)GGT>TGT		alpha 1 type XI collagen isoform A							74.0	83.0	80.0					1																	103461428		2202	4293	6495	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103461428C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2332G>T	1.37:g.103461428C>A	ENSP00000359114:p.Gly778Cys					COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.G790C|COL11A1_uc001dun.2_Missense_Mutation_p.G739C|COL11A1_uc009weh.2_Missense_Mutation_p.G662C	p.G778C	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	28	2650	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	778			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2332G>T	CCDS778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.647291|4.647291	0.87958|0.87958	.|.	.|.	ENSG00000060718|ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756|ENST00000370090	D;D;D;D|.	0.99637|.	-6.29;-6.29;-6.29;-6.29|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89677|0.89677	0.6784|0.6784	H|H	0.98333|0.98333	4.205|4.205	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.90846|0.90846	0.4727|0.4727	10|6	0.87932|0.34782	D|T	0|0.22	.|.	19.6506|19.6506	0.95805|0.95805	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	662;739;790;778|.	E9PCU0;P12107-3;P12107-2;P12107|.	.;.;.;COBA1_HUMAN|.	C|N	778;790;739;662|10	ENSP00000359114:G778C;ENSP00000351163:G790C;ENSP00000302551:G739C;ENSP00000426533:G662C|.	ENSP00000302551:G739C|ENSP00000359108:K10N	G|K	-|-	1|3	0|2	COL11A1|COL11A1	103234016|103234016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.240000|7.240000	0.78192|0.78192	2.640000|2.640000	0.89533|0.89533	0.591000|0.591000	0.81541|0.81541	GGT|AAG		0.269	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630		52	40	1	0	8.52622e-23	0.01441	1.15769e-22	52	40		
KCNC4	3749	broad.mit.edu	37	1	110754241	110754241	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:110754241C>T	ENST00000369787.3	+	1	147	c.120C>T	c.(118-120)atC>atT	p.I40I	KCNC4_ENST00000413138.3_Silent_p.I40I|KCNC4_ENST00000438661.2_Silent_p.I40I|KCNC4-AS1_ENST00000455967.1_RNA	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	40					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGATCATCATCAACGTGGGCG	0.677																																						uc001dzh.2		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(118-120)ATC>ATT		Shaw-related voltage-gated potassium channel							55.0	54.0	54.0					1																	110754241		2203	4300	6503	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754241C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.120C>T	1.37:g.110754241C>T						KCNC4_uc001dzf.2_Silent_p.I40I|KCNC4_uc009wfr.2_Silent_p.I40I|KCNC4_uc001dzg.2_Silent_p.I40I|KCNC4_uc001dzi.2_RNA	p.I40I	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	177	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	40			Cytoplasmic (Potential).		Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.120C>T	CCDS821.1																																																																																				0.677	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2		NM_001039574		20	35	0	0	0	0.004656	0	20	35		
SPAG17	200162	broad.mit.edu	37	1	118537064	118537064	+	Silent	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:118537064G>T	ENST00000336338.5	-	35	5208	c.5143C>A	c.(5143-5145)Cgg>Agg	p.R1715R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1715						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.R1715W(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GACCTTGACCGGAGATTAGGA	0.428																																						uc001ehk.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(5143-5145)CGG>AGG		sperm associated antigen 17							181.0	159.0	166.0					1																	118537064		2203	4299	6502	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118537064G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5143C>A	1.37:g.118537064G>T							p.R1715R	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	35	5211	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1715					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.5143C>A	CCDS899.1																																																																																				0.428	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1		NM_206996		27	49	1	0	6.70999e-13	0.019004	7.88157e-13	27	49		
OR6Y1	391112	broad.mit.edu	37	1	158517011	158517011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:158517011G>T	ENST00000302617.3	-	1	884	c.885C>A	c.(883-885)taC>taA	p.Y295*		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCCTCAGACAGTAAATGATGG	0.458																																						uc010pil.1		NaN																	0				ovary(1)	1						c.(883-885)TAC>TAA		olfactory receptor, family 6, subfamily Y,							163.0	151.0	155.0					1																	158517011		2203	4300	6503	SO:0001587	stop_gained	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517011G>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.885C>A	1.37:g.158517011G>T	ENSP00000304807:p.Tyr295*						p.Y295*	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	885	-	all_hematologic(112;0.0378)		295			Helical; Name=7; (Potential).		Q6IFS0	Nonsense_Mutation	SNP	ENST00000302617.3	37	c.885C>A	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274601	0.80580	.	.	ENSG00000197532	ENST00000302617	.	.	.	5.34	4.41	0.53225	.	0.000000	0.38326	N	0.001739	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6981	0.45911	0.1445:0.0:0.8555:0.0	.	.	.	.	X	295	.	ENSP00000304807:Y295X	Y	-	3	2	OR6Y1	156783635	0.968000	0.33430	1.000000	0.80357	0.993000	0.82548	1.008000	0.29872	2.763000	0.94921	0.655000	0.94253	TAC		0.458	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1		NM_001005189		40	67	1	0	1.81118e-26	0.01441	2.57745e-26	40	67		
KIFAP3	22920	broad.mit.edu	37	1	169951164	169951164	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:169951164C>A	ENST00000361580.2	-	15	1974	c.1747G>T	c.(1747-1749)Gca>Tca	p.A583S	KIFAP3_ENST00000540905.1_Missense_Mutation_p.A285S|KIFAP3_ENST00000367765.1_Missense_Mutation_p.A543S|KIFAP3_ENST00000538366.1_Missense_Mutation_p.A505S|KIFAP3_ENST00000367767.1_Missense_Mutation_p.A539S	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	583					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTAGCAATGCAGCACAAGAG	0.348																																						uc001ggv.2		NaN																	0				skin(1)	1						c.(1747-1749)GCA>TCA		kinesin-associated protein 3							119.0	109.0	112.0					1																	169951164		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169951164C>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1747G>T	1.37:g.169951164C>A	ENSP00000354560:p.Ala583Ser					KIFAP3_uc010plx.1_Missense_Mutation_p.A285S	p.A583S	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			15	2018	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		583			ARM 4.		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.1747G>T	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673601	0.29693	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.66	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.143651	0.64402	D	0.000007	T	0.25791	0.0628	L	0.43152	1.355	0.44762	D	0.997761	P	0.35793	0.521	B	0.35182	0.197	T	0.06588	-1.0818	9	.	.	.	-16.6669	14.5431	0.68011	0.0:0.9288:0.0:0.0712	.	583	Q92845	KIFA3_HUMAN	S	583;543;539;285;505	ENSP00000354560:A583S;ENSP00000356739:A543S;ENSP00000356741:A539S;ENSP00000442712:A285S;ENSP00000444622:A505S	.	A	-	1	0	KIFAP3	168217788	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	5.595000	0.67563	1.529000	0.49120	0.585000	0.79938	GCA		0.348	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1		NM_014970		23	31	1	0	2.4375e-19	0.007291	3.13695e-19	23	31		
LGR6	59352	broad.mit.edu	37	1	202205106	202205106	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:202205106C>G	ENST00000367278.3	+	4	502	c.413C>G	c.(412-414)cCg>cGg	p.P138R	LGR6_ENST00000439764.2_Missense_Mutation_p.P95R|LGR6_ENST00000255432.7_Missense_Mutation_p.P86R	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	138					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGGAGCTGCCGAGCCTGCAG	0.607																																						uc001gxu.2		NaN																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(412-414)CCG>CGG		leucine-rich repeat-containing G protein-coupled							48.0	54.0	52.0					1																	202205106		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202205106C>G	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.413C>G	1.37:g.202205106C>G	ENSP00000356247:p.Pro138Arg					LGR6_uc001gxv.2_Missense_Mutation_p.P86R|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.P95R|LGR6_uc009xac.1_5'Flank	p.P138R	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			4	413	+			138			Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.413C>G	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	9.338	1.062378	0.19987	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542;ENST00000439764	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.36	-0.125	0.13519	.	0.198590	0.45126	N	0.000395	T	0.29028	0.0721	N	0.17248	0.465	0.19575	N	0.999964	B;B;B	0.12630	0.002;0.002;0.006	B;B;B	0.14023	0.004;0.002;0.01	T	0.26189	-1.0110	10	0.06236	T	0.91	.	12.0954	0.53752	0.115:0.522:0.363:0.0	.	95;86;138	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	R	138;86;64;64;95	ENSP00000356247:P138R;ENSP00000255432:P86R;ENSP00000402284:P64R;ENSP00000387869:P95R	ENSP00000255432:P86R	P	+	2	0	LGR6	200471729	0.521000	0.26258	0.719000	0.30619	0.988000	0.76386	0.575000	0.23729	-0.286000	0.09076	0.491000	0.48974	CCG		0.607	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1		NM_021636		3	56	0	0	0	0.004672	0	3	56		
CHRM3	1131	broad.mit.edu	37	1	240071577	240071577	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:240071577G>A	ENST00000255380.4	+	5	1605	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	276					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GACAGAGGCAGAGACAGAAAA	0.488																																						uc001hyp.2		NaN																	0				ovary(4)|skin(1)	5						c.(826-828)GAG>AAG		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						38.0	44.0	42.0					1																	240071577		2202	4300	6502	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071577G>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.826G>A	1.37:g.240071577G>A	ENSP00000255380:p.Glu276Lys						p.E276K	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1605	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	276	E->D: Loss of basolateral sorting. No effect on basolateral sorting; when associated with L-280 and L-281.|E->A: Loss of basolateral sorting.		Basolateral sorting signal.|Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.826G>A	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002073	0.54254	.	.	ENSG00000133019	ENST00000255380	T	0.59906	0.23	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.211038	0.40469	N	0.001086	T	0.54727	0.1876	L	0.42632	1.34	0.80722	D	1	P	0.34815	0.47	B	0.39465	0.3	T	0.46911	-0.9157	10	0.10111	T	0.7	-25.5034	20.2165	0.98299	0.0:0.0:1.0:0.0	.	276	P20309	ACM3_HUMAN	K	276	ENSP00000255380:E276K	ENSP00000255380:E276K	E	+	1	0	CHRM3	238138200	1.000000	0.71417	0.972000	0.41901	0.743000	0.42351	5.781000	0.68964	2.781000	0.95711	0.591000	0.81541	GAG		0.488	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2		NM_000740		17	26	0	0	0	0.008871	0	17	26		
ANKRD30A	91074	broad.mit.edu	37	10	37430754	37430754	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:37430754T>C	ENST00000602533.1	+	7	860	c.761T>C	c.(760-762)gTg>gCg	p.V254A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.V254A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V254A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	310					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCACCCTTGGTGGAAAGAACA	0.502																																						uc001iza.1		NaN																	0				ovary(7)|breast(1)|skin(1)	9						c.(760-762)GTG>GCG		ankyrin repeat domain 30A							51.0	52.0	51.0					10																	37430754		1872	4108	5980	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430754T>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.761T>C	10.37:g.37430754T>C	ENSP00000473551:p.Val254Ala						p.V254A	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	860	+			310					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.761T>C		.	.	.	.	.	.	.	.	.	.	.	0	-2.582429	0.00129	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06687	3.27;3.27	0.548	-1.1	0.09872	.	.	.	.	.	T	0.02571	0.0078	N	0.01874	-0.695	0.09310	N	1	B	0.30068	0.267	B	0.32805	0.153	T	0.45644	-0.9247	8	0.16896	T	0.51	.	.	.	.	.	310	Q9BXX3	AN30A_HUMAN	A	254	ENSP00000354432:V254A;ENSP00000363792:V254A	ENSP00000354432:V254A	V	+	2	0	ANKRD30A	37470760	0.848000	0.29623	0.006000	0.13384	0.043000	0.13939	-0.270000	0.08584	-0.564000	0.06070	0.232000	0.17820	GTG		0.502	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997		3	50	0	0	0	0.004672	0	3	50		
ANKRD30A	91074	broad.mit.edu	37	10	37430773	37430773	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:37430773G>A	ENST00000602533.1	+	7	879	c.780G>A	c.(778-780)acG>acA	p.T260T	ANKRD30A_ENST00000374660.1_Silent_p.T260T|ANKRD30A_ENST00000361713.1_Silent_p.T260T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	316					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCTGACACGGCTGAAAGCT	0.493																																						uc001iza.1		NaN																	0				ovary(7)|breast(1)|skin(1)	9						c.(778-780)ACG>ACA		ankyrin repeat domain 30A							54.0	56.0	55.0					10																	37430773		1872	4110	5982	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430773G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.780G>A	10.37:g.37430773G>A							p.T260T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	879	+			316					Q5W025	Silent	SNP	ENST00000602533.1	37	c.780G>A																																																																																					0.493	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997		4	50	0	0	0	0.009096	0	4	50		
GPRIN2	9721	broad.mit.edu	37	10	46999113	46999113	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:46999113C>T	ENST00000374317.1	+	3	506	c.233C>T	c.(232-234)tCt>tTt	p.S78F	GPRIN2_ENST00000374314.4_Missense_Mutation_p.S78F	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	78										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCACGGGCCTCTGGCCCCAAG	0.701																																						uc001jec.2		NaN																	0					0						c.(232-234)TCT>TTT		G protein-regulated inducer of neurite outgrowth							30.0	37.0	35.0					10																	46999113		2198	4291	6489	SO:0001583	missense	9721							g.chr10:46999113C>T	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.233C>T	10.37:g.46999113C>T	ENSP00000363436:p.Ser78Phe					GPRIN2_uc010qfq.1_5'Flank	p.S78F	NM_014696	NP_055511	O60269	GRIN2_HUMAN			3	368	+			78					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.233C>T	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880837	0.17467	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03607	3.87;3.87	5.64	2.81	0.32909	.	0.495829	0.17248	N	0.181291	T	0.04634	0.0126	L	0.51422	1.61	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.31696	-0.9934	10	0.56958	D	0.05	-6.0572	7.91	0.29785	0.0:0.7506:0.0:0.2494	.	78	O60269	GRIN2_HUMAN	F	78	ENSP00000363436:S78F;ENSP00000363433:S78F	ENSP00000363433:S78F	S	+	2	0	GPRIN2	46419119	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.352000	0.20113	0.436000	0.26393	0.650000	0.86243	TCT		0.701	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1		NM_014696		7	48	0	0	0	0.008291	0	7	48		
KAT6B	23522	broad.mit.edu	37	10	76603021	76603021	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:76603021C>G	ENST00000287239.4	+	3	895	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	KAT6B_ENST00000372711.1_Missense_Mutation_p.Q136E|KAT6B_ENST00000372714.1_Missense_Mutation_p.Q136E|KAT6B_ENST00000372724.1_Missense_Mutation_p.Q136E|KAT6B_ENST00000372725.1_Missense_Mutation_p.Q136E	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	136	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCTCAGAAGTCAAAGTGATCT	0.498																																						uc001jwn.1		NaN								T					CREBBP		AML		0				central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(406-408)CAA>GAA		MYST histone acetyltransferase (monocytic							81.0	82.0	82.0					10																	76603021		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76603021C>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.406C>G	10.37:g.76603021C>G	ENSP00000287239:p.Gln136Glu					MYST4_uc001jwm.1_Missense_Mutation_p.Q136E|MYST4_uc001jwo.1_Missense_Mutation_p.Q136E|MYST4_uc001jwp.1_Missense_Mutation_p.Q136E	p.Q136E	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			3	899	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		136			H15.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.406C>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637617	0.47049	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	6.04	6.04	0.98038	.	0.000000	0.44285	D	0.000464	T	0.49012	0.1532	M	0.65975	2.015	0.41935	D	0.990587	D;D;D	0.63046	0.99;0.99;0.992	D;D;D	0.76071	0.979;0.979;0.987	T	0.39583	-0.9607	10	0.87932	D	0	-10.0023	20.5948	0.99439	0.0:1.0:0.0:0.0	.	136;136;136	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	E	136	ENSP00000361810:Q136E;ENSP00000361809:Q136E;ENSP00000287239:Q136E;ENSP00000361799:Q136E;ENSP00000361796:Q136E	ENSP00000287239:Q136E	Q	+	1	0	KAT6B	76273027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.873000	0.98535	0.563000	0.77884	CAA		0.498	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1		NM_012330		29	22	0	0	0	0.00632	0	29	22		
BTAF1	9044	broad.mit.edu	37	10	93751881	93751881	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:93751881A>G	ENST00000265990.6	+	21	3168	c.2860A>G	c.(2860-2862)Acc>Gcc	p.T954A		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	954					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTAGGATCCACCTCAGAAAA	0.358																																						uc001khr.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2860-2862)ACC>GCC		BTAF1 RNA polymerase II, B-TFIID transcription							67.0	66.0	66.0					10																	93751881		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93751881A>G	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2860A>G	10.37:g.93751881A>G	ENSP00000265990:p.Thr954Ala					BTAF1_uc001kht.1_Missense_Mutation_p.T392A	p.T954A	NM_003972	NP_003963	O14981	BTAF1_HUMAN			21	2958	+		Colorectal(252;0.0846)	954					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.2860A>G	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	5.173	0.217449	0.09810	.	.	ENSG00000095564	ENST00000265990	D	0.89617	-2.54	5.86	4.73	0.59995	Domain of unknown function DUF3535 (1);Armadillo-type fold (1);	0.401092	0.31102	N	0.008248	T	0.70988	0.3287	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.63161	-0.6699	10	0.06625	T	0.88	-34.5541	9.2488	0.37543	0.8617:0.0:0.1383:0.0	.	954;954	Q2M1V9;O14981	.;BTAF1_HUMAN	A	954	ENSP00000265990:T954A	ENSP00000265990:T954A	T	+	1	0	BTAF1	93741861	1.000000	0.71417	0.997000	0.53966	0.659000	0.38960	3.650000	0.54424	1.050000	0.40346	-0.270000	0.10280	ACC		0.358	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4		NM_003972		14	27	0	0	0	0.020292	0	14	27		
PNLIPRP3	119548	broad.mit.edu	37	10	118228730	118228730	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:118228730C>A	ENST00000369230.3	+	9	1107	c.961C>A	c.(961-963)Cca>Aca	p.P321T		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	321					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGAAGGTTGCCCAACAATGGG	0.358																																						uc001lcl.3		NaN																	0				ovary(1)	1						c.(961-963)CCA>ACA		pancreatic lipase-related protein 3 precursor							79.0	80.0	80.0					10																	118228730		2203	4299	6502	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118228730C>A	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.961C>A	10.37:g.118228730C>A	ENSP00000358232:p.Pro321Thr						p.P321T	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	9	1062	+			321						Missense_Mutation	SNP	ENST00000369230.3	37	c.961C>A	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791168	0.31685	.	.	ENSG00000203837	ENST00000369230	D	0.90955	-2.76	4.96	4.02	0.46733	Lipase, N-terminal (1);	0.149114	0.28908	N	0.013744	D	0.91379	0.7280	L	0.50847	1.595	0.26516	N	0.974512	P	0.46706	0.883	P	0.52031	0.688	D	0.86571	0.1847	10	0.87932	D	0	.	15.5232	0.75881	0.0:0.8622:0.1378:0.0	.	321	Q17RR3	LIPR3_HUMAN	T	321	ENSP00000358232:P321T	ENSP00000358232:P321T	P	+	1	0	PNLIPRP3	118218720	1.000000	0.71417	0.126000	0.21872	0.528000	0.34623	3.891000	0.56227	2.573000	0.86826	0.591000	0.81541	CCA		0.358	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1		XM_058404		18	19	1	0	1.22574e-08	0.014323	1.37431e-08	18	19		
NLRP6	171389	broad.mit.edu	37	11	281667	281667	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:281667G>A	ENST00000312165.5	+	4	1933	c.1933G>A	c.(1933-1935)Gcg>Acg	p.A645T	NLRP6_ENST00000534750.1_Missense_Mutation_p.A645T	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	645					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCGGAGCTGGCGCTGCAGCG	0.647																																						uc010qvs.1		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1933-1935)GCG>ACG		NLR family, pyrin domain containing 6							82.0	91.0	88.0					11																	281667		2203	4300	6503	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281667G>A	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1933G>A	11.37:g.281667G>A	ENSP00000309767:p.Ala645Thr					NLRP6_uc010qvt.1_Missense_Mutation_p.A645T	p.A645T	NM_138329	NP_612202	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	1933	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	645					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1933G>A	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	1.467	-0.560890	0.03939	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.52057	0.68;0.68	2.93	-0.064	0.13774	.	1.814960	0.03156	N	0.168643	T	0.29716	0.0742	N	0.19112	0.55	0.09310	N	1	B;B	0.23058	0.002;0.079	B;B	0.16722	0.002;0.016	T	0.09185	-1.0686	10	0.14656	T	0.56	.	4.9547	0.14033	0.4573:0.0:0.5427:0.0	.	645;645	E9PJZ8;P59044	.;NALP6_HUMAN	T	645	ENSP00000433617:A645T;ENSP00000309767:A645T	ENSP00000309767:A645T	A	+	1	0	NLRP6	271667	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.003000	0.12901	-0.008000	0.14320	0.462000	0.41574	GCG		0.647	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1		NM_138329		83	93	0	0	0	0.01441	0	83	93		
NUP98	4928	broad.mit.edu	37	11	3744407	3744407	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:3744407G>C	ENST00000324932.7	-	16	2546	c.2126C>G	c.(2125-2127)tCt>tGt	p.S709C	NUP98_ENST00000397004.4_Missense_Mutation_p.S709C|NUP98_ENST00000359171.4_Missense_Mutation_p.S709C|NUP98_ENST00000355260.3_Missense_Mutation_p.S709C|NUP98_ENST00000397007.4_Missense_Mutation_p.S726C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	726					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CATATGGTAAGAATTATTTTC	0.423			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2		NaN		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(2125-2127)TCT>TGT		nucleoporin 98kD isoform 1							106.0	104.0	105.0					11																	3744407		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3744407G>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2126C>G	11.37:g.3744407G>C	ENSP00000316032:p.Ser709Cys					NUP98_uc001lyi.2_Missense_Mutation_p.S709C|NUP98_uc001lyj.1_Missense_Mutation_p.S709C|NUP98_uc001lyk.1_Missense_Mutation_p.S726C	p.S709C	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	16	2417	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	726					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.2126C>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714952	0.30413	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	4.73	3.82	0.43975	.	0.750514	0.13123	N	0.412047	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	P;B;P;P	0.39181	0.643;0.415;0.663;0.663	B;B;B;B	0.39299	0.247;0.247;0.296;0.296	T	0.09164	-1.0687	9	0.56958	D	0.05	.	2.0526	0.03574	0.1764:0.156:0.5067:0.161	.	726;709;709;709	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	C	709;709;709;709;726	.	ENSP00000316032:S709C	S	-	2	0	NUP98	3700983	0.001000	0.12720	0.284000	0.24805	0.985000	0.73830	0.488000	0.22371	0.992000	0.38840	0.585000	0.79938	TCT		0.423	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3		NM_016320		32	50	0	0	0	0.021022	0	32	50		
SBF2	81846	broad.mit.edu	37	11	9812207	9812207	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:9812207C>G	ENST00000256190.8	-	34	4731	c.4594G>C	c.(4594-4596)Gaa>Caa	p.E1532Q	SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000526617.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1532	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GCATGCTTTTCTCCTTTATCA	0.308																																						uc001mib.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(4594-4596)GAA>CAA		SET binding factor 2							71.0	86.0	81.0					11																	9812207		2201	4285	6486	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9812207C>G	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.4594G>C	11.37:g.9812207C>G	ENSP00000256190:p.Glu1532Gln					uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.E176Q|SBF2_uc001mic.2_5'Flank|uc001mie.3_Intron	p.E1532Q	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	34	4732	-			1532			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.4594G>C	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359440	0.61403	.	.	ENSG00000133812	ENST00000256190	D	0.85861	-2.04	6.17	6.17	0.99709	Myotubularin phosphatase domain (1);	0.082889	0.85682	D	0.000000	D	0.88388	0.6423	M	0.64676	1.99	0.46437	D	0.999043	B	0.29716	0.255	B	0.41135	0.348	D	0.84502	0.0617	10	0.44086	T	0.13	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1532	Q86WG5	MTMRD_HUMAN	Q	1532	ENSP00000256190:E1532Q	ENSP00000256190:E1532Q	E	-	1	0	SBF2	9768783	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAA		0.308	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2		NM_030962		33	54	0	0	0	0.010771	0	33	54		
OR4A5	81318	broad.mit.edu	37	11	51411647	51411647	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:51411647G>T	ENST00000319760.6	-	1	801	c.749C>A	c.(748-750)cCc>cAc	p.P250H		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P250Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GAAAATACAGGGTACAAAAAA	0.398																																						uc001nhi.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(748-750)CCC>CAC		olfactory receptor, family 4, subfamily A,							54.0	53.0	54.0					11																	51411647		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411647G>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.749C>A	11.37:g.51411647G>T	ENSP00000367664:p.Pro250His						p.P250H	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	749	-		all_lung(304;0.236)	250			Helical; Name=6; (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.749C>A	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	5.213	0.224829	0.09916	.	.	ENSG00000221840	ENST00000319760	T	0.00216	8.53	2.2	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000247	T	0.00552	0.0018	M	0.91972	3.26	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.34229	-0.9837	10	0.87932	D	0	.	4.8929	0.13735	0.1794:0.0:0.8206:0.0	.	250	Q8NH83	OR4A5_HUMAN	H	250	ENSP00000367664:P250H	ENSP00000367664:P250H	P	-	2	0	OR4A5	51268223	0.020000	0.18652	0.211000	0.23655	0.035000	0.12851	1.966000	0.40481	1.554000	0.49487	0.162000	0.16502	CCC		0.398	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1		NM_001005272		19	31	1	0	8.04996e-18	0.012319	1.02706e-17	19	31		
OR4C15	81309	broad.mit.edu	37	11	55322491	55322491	+	Silent	SNP	T	T	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:55322491T>C	ENST00000314644.2	+	1	709	c.709T>C	c.(709-711)Tta>Cta	p.L237L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTGTACCCGTTACTGGAGCT	0.448										HNSCC(20;0.049)																												uc010rig.1		NaN																	0				ovary(1)|skin(1)	2						c.(709-711)TTA>CTA		olfactory receptor, family 4, subfamily C,							121.0	85.0	97.0					11																	55322491		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322491T>C	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.709T>C	11.37:g.55322491T>C		HNSCC(20;0.049)					p.L237L	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	709	+			183			Extracellular (Potential).		Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.709T>C	CCDS31501.1																																																																																				0.448	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1		NM_001001920		14	11	0	0	0	0.020292	0	14	11		
OR10Q1	219960	broad.mit.edu	37	11	57996150	57996150	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:57996150G>A	ENST00000316770.2	-	1	240	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGTTGGACAGGAAGAAATACA	0.532																																						uc010rkd.1		NaN																	0				ovary(2)	2						c.(196-198)TTC>TTT		olfactory receptor, family 10, subfamily Q,							98.0	100.0	99.0					11																	57996150		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57996150G>A	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.198C>T	11.37:g.57996150G>A							p.F66F	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	198	-		Breast(21;0.0589)	66			Helical; Name=2; (Potential).		Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.198C>T	CCDS31547.1																																																																																				0.532	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1		NM_001004471		33	67	0	0	0	0.007835	0	33	67		
MS4A1	931	broad.mit.edu	37	11	60229778	60229778	+	5'UTR	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:60229778C>A	ENST00000534668.1	+	0	220				MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000532073.1_Intron|MS4A1_ENST00000534503.1_Intron|MS4A1_ENST00000389939.2_5'UTR|MS4A1_ENST00000345732.4_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1						B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	CAAGGTAAGACTGCCAAAAAT	0.408																																						uc001npp.2		NaN																	0				ovary(3)|lung(2)	5						c.(-71--67)GACTG>GAATG		membrane-spanning 4-domains, subfamily A, member	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)																																			SO:0001623	5_prime_UTR_variant	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60229778C>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.-70C>A	11.37:g.60229778C>A						MS4A1_uc009ymy.1_Intron|MS4A1_uc001npq.2_Intron|MS4A1_uc009yna.2_Translation_Start_Site|MS4A1_uc009ymz.2_Intron|MS4A1_uc010rlc.1_Intron		NM_152866	NP_690605	P11836	CD20_HUMAN			3	347	+								A6NMS4|B4DT24|P08984|Q13963	Translation_Start_Site	SNP	ENST00000534668.1	37	c.-69C>A	CCDS31570.1																																																																																				0.408	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1				3	11	1	0	0.004672	0.004672	0.00483536	3	11		
A2M	2	broad.mit.edu	37	12	9262584	9262584	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:9262584C>A	ENST00000318602.7	-	6	859	c.552G>T	c.(550-552)gaG>gaT	p.E184D		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	184					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TGAGGCCACCCTCTAACTGGA	0.463																																						uc001qvk.1		NaN																	0				central_nervous_system(4)|skin(1)	5						c.(550-552)GAG>GAT		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						121.0	130.0	127.0					12																	9262584		2090	4262	6352	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9262584C>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.552G>T	12.37:g.9262584C>A	ENSP00000323929:p.Glu184Asp					A2M_uc009zgk.1_Missense_Mutation_p.E34D	p.E184D	NM_000014	NP_000005	P01023	A2MG_HUMAN			6	665	-			184					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.552G>T	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460215	0.12342	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.74947	-0.89	5.41	2.47	0.30058	Alpha-2-macroglobulin, N-terminal (1);	0.491914	0.21375	N	0.075566	T	0.67202	0.2868	L	0.60845	1.875	0.09310	N	1	B	0.12630	0.006	B	0.17098	0.017	T	0.57154	-0.7860	10	0.37606	T	0.19	.	9.0242	0.36218	0.1501:0.5186:0.3313:0.0	.	184	P01023	A2MG_HUMAN	D	184;199	ENSP00000323929:E184D	ENSP00000323929:E184D	E	-	3	2	A2M	9153851	0.000000	0.05858	0.004000	0.12327	0.037000	0.13140	-0.232000	0.09055	0.645000	0.30675	-0.218000	0.12543	GAG		0.463	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2		NM_000014		37	54	1	0	1.57945e-13	0.011902	1.90048e-13	37	54		
TROAP	10024	broad.mit.edu	37	12	49724403	49724403	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:49724403A>G	ENST00000257909.3	+	13	1851	c.1775A>G	c.(1774-1776)tAc>tGc	p.Y592C	TROAP_ENST00000551245.1_Missense_Mutation_p.Y592C|TROAP_ENST00000547923.1_Intron	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	592	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CTAGAGTCCTACTGTAGGATT	0.617																																						uc001rtx.3		NaN																	0				ovary(1)	1						c.(1774-1776)TAC>TGC		tastin isoform 1							72.0	70.0	71.0					12																	49724403		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49724403A>G	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1775A>G	12.37:g.49724403A>G	ENSP00000257909:p.Tyr592Cys					TROAP_uc009zlh.2_Missense_Mutation_p.Y592C|TROAP_uc001rty.2_Intron	p.Y592C	NM_005480	NP_005471	Q12815	TROAP_HUMAN			13	1942	+			592			Cys-rich.|4 X 33 AA approximate tandem repeats.|3.		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1775A>G	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	a	5.880	0.346480	0.11126	.	.	ENSG00000135451	ENST00000551245;ENST00000257909	.	.	.	3.34	-3.85	0.04243	.	1.490010	0.03952	N	0.288732	T	0.09069	0.0224	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18272	-1.0342	9	0.28530	T	0.3	7.0657	4.9225	0.13876	0.4025:0.2764:0.321:0.0	.	592;592	F8W130;Q12815	.;TROAP_HUMAN	C	592	.	ENSP00000257909:Y592C	Y	+	2	0	TROAP	48010670	0.904000	0.30761	0.000000	0.03702	0.008000	0.06430	-0.239000	0.08965	-0.648000	0.05437	-1.237000	0.01550	TAC		0.617	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1		NM_005480		5	81	0	0	0	0.001168	0	5	81		
LHX5	64211	broad.mit.edu	37	12	113906970	113906970	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:113906970G>T	ENST00000261731.3	-	2	927	c.354C>A	c.(352-354)gaC>gaA	p.D118E	RP11-82C23.2_ENST00000551357.2_RNA|LHX5_ENST00000557836.1_5'Flank	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	118	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						AGCTCAGGTAGTCGTCTTTGC	0.572																																						uc001tvj.1		NaN																	0					0						c.(352-354)GAC>GAA		LIM homeobox protein 5							107.0	86.0	93.0					12																	113906970		2203	4300	6503	SO:0001583	missense	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113906970G>T	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"""Homeoboxes / LIM class"""	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.354C>A	12.37:g.113906970G>T	ENSP00000261731:p.Asp118Glu						p.D118E	NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN			2	928	-			118			LIM zinc-binding 2.		Q32MA4	Missense_Mutation	SNP	ENST00000261731.3	37	c.354C>A	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382646	0.82792	.	.	ENSG00000089116	ENST00000261731	D	0.89746	-2.56	5.16	5.16	0.70880	Zinc finger, LIM-type (4);	0.000000	0.56097	D	0.000035	D	0.94843	0.8334	M	0.92880	3.355	0.58432	D	0.999999	D	0.57899	0.981	D	0.63793	0.918	D	0.95347	0.8443	10	0.66056	D	0.02	.	11.7305	0.51735	0.0813:0.0:0.9187:0.0	.	118	Q9H2C1	LHX5_HUMAN	E	118	ENSP00000261731:D118E	ENSP00000261731:D118E	D	-	3	2	LHX5	112391353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.902000	0.39848	2.420000	0.82092	0.561000	0.74099	GAC		0.572	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3		NM_022363		11	13	1	0	3.86212e-05	0.008291	4.14198e-05	11	13		
C1QTNF9	338872	broad.mit.edu	37	13	24895231	24895231	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr13:24895231G>T	ENST00000382071.2	+	4	412	c.327G>T	c.(325-327)atG>atT	p.M109I	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.M109I			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	109	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CAGGGCCCATGGGAGAGAAGG	0.582																																						uc001upj.2		NaN																	0					0						c.(325-327)ATG>ATT		C1q and tumor necrosis factor related protein 9							32.0	17.0	22.0					13																	24895231		2039	3680	5719	SO:0001583	missense	338872					collagen	hormone activity	g.chr13:24895231G>T	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.327G>T	13.37:g.24895231G>T	ENSP00000371503:p.Met109Ile					C1QTNF9_uc001upe.2_RNA	p.M109I	NM_178540	NP_848635	P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	4	388	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	109			Collagen-like 2.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	c.327G>T	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	N	0.154	-1.088066	0.01873	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.93189	-3.18;-3.18	4.1	0.814	0.18756	.	0.643608	0.16667	N	0.204525	T	0.82006	0.4943	N	0.10782	0.045	0.53005	D	0.999968	B	0.06786	0.001	B	0.04013	0.001	T	0.66276	-0.5964	9	.	.	.	.	6.9644	0.24615	0.4633:0.0:0.5367:0.0	.	109	P0C862	C1T9A_HUMAN	I	109	ENSP00000371503:M109I;ENSP00000333737:M109I	.	M	+	3	0	C1QTNF9	23793231	0.001000	0.12720	0.037000	0.18230	0.163000	0.22366	-0.176000	0.09811	-0.001000	0.14495	0.536000	0.68110	ATG		0.582	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1		NM_178540		20	19	1	0	3.51602e-12	0.008871	4.0974e-12	20	19		
PCDH20	64881	broad.mit.edu	37	13	61986716	61986716	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr13:61986716C>A	ENST00000409186.1	-	5	3621	c.1516G>T	c.(1516-1518)Gct>Tct	p.A506S	PCDH20_ENST00000409204.4_Missense_Mutation_p.A506S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	506	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GCCACCACAGCTACTTCATAG	0.388																																						uc001vid.3		NaN																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1516-1518)GCT>TCT		protocadherin 20							124.0	126.0	125.0					13																	61986716		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986716C>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1516G>T	13.37:g.61986716C>A	ENSP00000386653:p.Ala506Ser					PCDH20_uc010thj.1_Missense_Mutation_p.A506S	p.A506S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	1880	-		Breast(118;0.195)|Prostate(109;0.229)	479			Cadherin 3.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1516G>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	3.945	-0.013488	0.07727	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.60424	0.19;0.19	6.06	3.97	0.46021	.	0.291939	0.29846	N	0.011054	T	0.30230	0.0758	N	0.03194	-0.395	0.37601	D	0.920571	B	0.02656	0.0	B	0.04013	0.001	T	0.15838	-1.0423	10	0.31617	T	0.26	.	8.043	0.30532	0.1629:0.6829:0.0:0.1543	.	506	A8K1K9	.	S	506;506;252	ENSP00000387250:A506S;ENSP00000386653:A506S	ENSP00000351500:A252S	A	-	1	0	PCDH20	60884717	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.099000	0.31013	1.508000	0.48769	0.650000	0.86243	GCT		0.388	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2		NM_022843		63	78	1	0	9.61239e-26	0.01441	1.35489e-25	63	78		
COCH	1690	broad.mit.edu	37	14	31349663	31349663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:31349663C>T	ENST00000396618.3	+	7	498	c.442C>T	c.(442-444)Cga>Tga	p.R148*	COCH_ENST00000460581.2_Nonsense_Mutation_p.R36*|COCH_ENST00000216361.4_Nonsense_Mutation_p.R148*|COCH_ENST00000382493.4_5'Flank|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Nonsense_Mutation_p.R148*	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	148					defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTCAGGTAAACGACTAAAGAA	0.413																																						uc001wqr.2		NaN																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(442-444)CGA>TGA		cochlin precursor							129.0	129.0	129.0					14																	31349663		2203	4300	6503	SO:0001587	stop_gained	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31349663C>T		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.442C>T	14.37:g.31349663C>T	ENSP00000379862:p.Arg148*					COCH_uc001wqp.2_Nonsense_Mutation_p.R148*|COCH_uc001wqq.3_Nonsense_Mutation_p.R148*|uc001wqs.2_Intron|COCH_uc001wqt.1_Translation_Start_Site	p.R148*	NM_004086	NP_004077	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	7	522	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		148					A8K9K9|D3DS84|Q96IU6	Nonsense_Mutation	SNP	ENST00000396618.3	37	c.442C>T	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	C	37	6.135815	0.97315	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000556908;ENST00000555881;ENST00000460581;ENST00000542225	.	.	.	5.82	2.88	0.33553	.	0.110587	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1757	15.2946	0.73894	0.5669:0.4331:0.0:0.0	.	.	.	.	X	148;148;148;132;30;36;36	.	ENSP00000216361:R148X	R	+	1	2	COCH	30419414	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.375000	0.34295	0.307000	0.22880	0.650000	0.86243	CGA		0.413	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1		NM_004086		8	12	0	0	0	0.010729	0	8	12		
FAM71D	161142	broad.mit.edu	37	14	67671305	67671305	+	3'UTR	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:67671305G>A	ENST00000556046.1	+	0	952							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CGGAGAACATGAGCCTGAAAG	0.493																																						uc001xja.1		NaN																	0				ovary(1)	1						c.(409-411)ATG>ATA		hypothetical protein LOC161142							97.0	80.0	86.0					14																	67671305		2203	4300	6503	SO:0001624	3_prime_UTR_variant	161142							g.chr14:67671305G>A		CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 54"""	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.*467G>A	14.37:g.67671305G>A						FAM71D_uc010aqn.1_RNA	p.M137I	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)	5	665	+		all_hematologic(31;0.0116)	137					Q86VN4	Missense_Mutation	SNP	ENST00000556046.1	37	c.411G>A																																																																																					0.493	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	protein_coding	OTTHUMT00000412390.1		NM_173526		4	15	0	0	0	0.001168	0	4	15		
ZFYVE1	53349	broad.mit.edu	37	14	73459948	73459948	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:73459948G>A	ENST00000556143.1	-	4	1826	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.T369M|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.T369M	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	369					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AGAAAAGTCCGTGGGAGGGTT	0.562																																						uc001xnm.2		NaN																	0				skin(1)	1						c.(1105-1107)ACG>ATG		zinc finger, FYVE domain containing 1 isoform 1							71.0	76.0	75.0					14																	73459948		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73459948G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1106C>T	14.37:g.73459948G>A	ENSP00000450742:p.Thr369Met					ZFYVE1_uc010arj.2_Missense_Mutation_p.T369M	p.T369M	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	4	1746	-		all_lung(585;1.33e-09)	369					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.1106C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064770	0.93898	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.71698	-0.57;-0.59;-0.56	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.974	D	0.87165	0.2217	10	0.87932	D	0	-9.5595	19.3349	0.94312	0.0:0.0:1.0:0.0	.	369;369	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	M	369	ENSP00000452442:T369M;ENSP00000326921:T369M;ENSP00000450742:T369M	ENSP00000326921:T369M	T	-	2	0	ZFYVE1	72529701	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	9.751000	0.98889	2.588000	0.87417	0.555000	0.69702	ACG		0.562	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1		NM_021260		47	50	0	0	0	0.01441	0	47	50		
PTPN21	11099	broad.mit.edu	37	14	88983603	88983603	+	Silent	SNP	G	G	A	rs1135152		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:88983603G>A	ENST00000556564.1	-	3	467	c.183C>T	c.(181-183)gtC>gtT	p.V61V	PTPN21_ENST00000328736.3_Silent_p.V61V|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	61	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGAAGTAAGTGACCTGGAAAG	0.433																																						uc001xwv.3		NaN																	0				ovary(3)|skin(1)	4						c.(181-183)GTC>GTT		protein tyrosine phosphatase, non-receptor type							72.0	73.0	73.0					14																	88983603		2203	4300	6503	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88983603G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.183C>T	14.37:g.88983603G>A						PTPN21_uc010twc.1_5'UTR|PTPN21_uc010atf.1_Silent_p.V61V	p.V61V	NM_007039	NP_008970	Q16825	PTN21_HUMAN			3	514	-			61			FERM.			Silent	SNP	ENST00000556564.1	37	c.183C>T	CCDS9884.1																																																																																				0.433	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1				14	52	0	0	0	0.006122	0	14	52		
DIO3	1735	broad.mit.edu	37	14	102028171	102028171	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:102028171C>T	ENST00000510508.4	+	1	484	c.338C>T	c.(337-339)tCg>tTg	p.S113L	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.S87L			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	113					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ACCCTGGCGTCGCTCAAGGCG	0.662																																						uc010txq.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(259-261)TCG>TTG		deiodinase, iodothyronine, type III							45.0	50.0	48.0					14																	102028171		2025	4158	6183	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028171C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.338C>T	14.37:g.102028171C>T	ENSP00000427336:p.Ser113Leu					DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	p.S87L	NM_001362	NP_001353	P55073	IOD3_HUMAN			1	484	+		all_neural(303;0.185)	87			Extracellular (Potential).		G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.260C>T	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905371	0.92107	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.32988	1.43;1.43	3.22	3.22	0.36961	.	0.000000	0.51477	U	0.000098	T	0.52901	0.1763	M	0.89414	3.03	0.44042	D	0.996777	D	0.71674	0.998	P	0.60949	0.881	T	0.60209	-0.7308	10	0.14252	T	0.57	.	13.5745	0.61866	0.0:1.0:0.0:0.0	.	87	P55073	IOD3_HUMAN	L	87;113	ENSP00000352273:S87L;ENSP00000427336:S113L	ENSP00000352273:S113L	S	+	2	0	DIO3;AL049836.1	101097924	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.843000	0.69424	1.612000	0.50221	0.462000	0.41574	TCG		0.662	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4		NM_001362		6	73	0	0	0	0.001984	0	6	73		
PPP1R13B	23368	broad.mit.edu	37	14	104206397	104206397	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:104206397C>A	ENST00000202556.9	-	12	2638	c.2356G>T	c.(2356-2358)Gcc>Tcc	p.A786S	PPP1R13B_ENST00000423488.2_Missense_Mutation_p.A205S|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	786	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GATGACGGGGCAGGCTCAGCG	0.602																																						uc001yof.1		NaN																	0				ovary(1)	1						c.(2356-2358)GCC>TCC		apoptosis-stimulating protein of p53, 1							54.0	64.0	61.0					14																	104206397		1971	4146	6117	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104206397C>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2356G>T	14.37:g.104206397C>A	ENSP00000202556:p.Ala786Ser					PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Missense_Mutation_p.A653S	p.A786S	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			12	2639	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	786			Pro-rich.		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.2356G>T	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	3.297	-0.143739	0.06627	.	.	ENSG00000088808	ENST00000202556;ENST00000423488	T;T	0.54071	0.77;0.59	5.12	4.17	0.49024	.	0.595996	0.18713	N	0.133252	T	0.27454	0.0674	N	0.08118	0	0.09310	N	1	B	0.27559	0.181	B	0.21360	0.034	T	0.07424	-1.0773	10	0.08837	T	0.75	.	11.9534	0.52968	0.0:0.63:0.37:0.0	.	786	Q96KQ4	ASPP1_HUMAN	S	786;205	ENSP00000202556:A786S;ENSP00000395213:A205S	ENSP00000202556:A786S	A	-	1	0	PPP1R13B	103276150	0.293000	0.24371	0.819000	0.32651	0.174000	0.22865	0.793000	0.26944	2.529000	0.85273	0.561000	0.74099	GCC		0.602	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1		NM_015316		44	83	1	0	1.4709e-25	0.01441	2.05371e-25	44	83		
VPS39	23339	broad.mit.edu	37	15	42454656	42454656	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:42454656C>T	ENST00000348544.4	-	23	2231	c.2232G>A	c.(2230-2232)atG>atA	p.M744I	VPS39_ENST00000318006.5_Missense_Mutation_p.M733I			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	744					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GCGACAGGTACATCCGAAGCA	0.592																																						uc001zpd.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2230-2232)ATG>ATA		vacuolar protein sorting 39							74.0	61.0	65.0					15																	42454656		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42454656C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2232G>A	15.37:g.42454656C>T	ENSP00000335193:p.Met744Ile					VPS39_uc001zpc.2_Missense_Mutation_p.M733I|VPS39_uc001zpb.2_Missense_Mutation_p.M79I	p.M744I	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	23	2383	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	744					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.2232G>A	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.048937	0.55110	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.39406	1.08;1.08	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.28458	0.855	0.80722	D	1	B;B	0.27316	0.11;0.175	B;B	0.24541	0.024;0.054	T	0.10497	-1.0627	10	0.12430	T	0.62	-30.735	19.6454	0.95775	0.0:1.0:0.0:0.0	.	744;733	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	I	733;744	ENSP00000326534:M733I;ENSP00000335193:M744I	ENSP00000326534:M733I	M	-	3	0	VPS39	40241948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.714000	0.92807	0.561000	0.74099	ATG		0.592	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1		NM_015289		12	44	0	0	0	0.016723	0	12	44		
DMXL2	23312	broad.mit.edu	37	15	51741202	51741202	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:51741202G>T	ENST00000251076.5	-	43	9377	c.9090C>A	c.(9088-9090)aaC>aaA	p.N3030K	DMXL2_ENST00000543779.2_Missense_Mutation_p.N3031K|DMXL2_ENST00000449909.3_Missense_Mutation_p.N2394K|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	3030						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CAAGAATTCTGTTAGGGATGT	0.408																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(9088-9090)AAC>AAA		Dmx-like 2							55.0	51.0	52.0					15																	51741202		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51741202G>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.9090C>A	15.37:g.51741202G>T	ENSP00000251076:p.Asn3030Lys					DMXL2_uc002abd.2_Missense_Mutation_p.N1122K|DMXL2_uc010ufy.1_Missense_Mutation_p.N3031K|DMXL2_uc010bfa.2_Missense_Mutation_p.N2394K|DMXL2_uc002abc.2_RNA	p.N3030K	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	43	9315	-			3030			WD 16.		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.9090C>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580689	0.28180	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.25414	1.93;1.93;1.8	5.6	-2.15	0.07102	.	1.305650	0.04866	N	0.445067	T	0.22244	0.0536	L	0.42245	1.32	0.09310	N	0.999996	B;B;B;B	0.32324	0.01;0.364;0.006;0.168	B;B;B;B	0.33121	0.022;0.077;0.01;0.158	T	0.35425	-0.9789	10	0.44086	T	0.13	.	7.4996	0.27509	0.417:0.0:0.4465:0.1365	.	3031;2394;3030;3031	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	K	3030;3031;2394;596	ENSP00000251076:N3030K;ENSP00000441858:N3031K;ENSP00000400855:N2394K	ENSP00000251076:N3030K	N	-	3	2	DMXL2	49528494	0.141000	0.22595	0.013000	0.15412	0.973000	0.67179	0.544000	0.23253	-0.320000	0.08640	-0.251000	0.11542	AAC		0.408	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		8	22	1	0	2.74318e-10	0.006214	3.123e-10	8	22		
SLC24A1	9187	broad.mit.edu	37	15	65918083	65918083	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:65918083G>T	ENST00000261892.6	+	2	1952	c.1665G>T	c.(1663-1665)tgG>tgT	p.W555C	SLC24A1_ENST00000544319.2_Missense_Mutation_p.W555C|SLC24A1_ENST00000339868.6_Missense_Mutation_p.W555C|SLC24A1_ENST00000546330.1_Missense_Mutation_p.W555C|SLC24A1_ENST00000537259.1_Missense_Mutation_p.W555C|SLC24A1_ENST00000399033.4_Missense_Mutation_p.W555C	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	555					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACCTCACCTGGTGGCCCTTAT	0.522																																						uc010ujf.1		NaN																	0					0						c.(1663-1665)TGG>TGT		solute carrier family 24							284.0	285.0	285.0					15																	65918083		2153	4276	6429	SO:0001583	missense	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918083G>T	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1665G>T	15.37:g.65918083G>T	ENSP00000261892:p.Trp555Cys					SLC24A1_uc010ujd.1_Missense_Mutation_p.W555C|SLC24A1_uc010uje.1_Missense_Mutation_p.W555C|SLC24A1_uc010ujg.1_Missense_Mutation_p.W555C|SLC24A1_uc010ujh.1_Missense_Mutation_p.W555C	p.W555C	NM_004727	NP_004718	O60721	NCKX1_HUMAN			2	1952	+			555			Cytoplasmic (Potential).		O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	c.1665G>T	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097436	0.76870	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.92	5.92	0.95590	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.81955	0.4932	M	0.83603	2.65	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	T	0.83048	-0.0154	10	0.66056	D	0.02	.	19.301	0.94144	0.0:0.0:1.0:0.0	.	555;555;555;555;555	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	C	555	ENSP00000439693:W555C;ENSP00000261892:W555C;ENSP00000341837:W555C;ENSP00000445163:W555C;ENSP00000381991:W555C;ENSP00000439190:W555C	ENSP00000261892:W555C	W	+	3	0	SLC24A1	63705137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.808000	0.99193	2.808000	0.96608	0.561000	0.74099	TGG		0.522	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1		NM_004727		47	65	1	0	1.21353e-23	0.01441	1.66299e-23	47	65		
CHRNB4	1143	broad.mit.edu	37	15	78922018	78922018	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:78922018C>A	ENST00000261751.3	-	5	740	c.629G>T	c.(628-630)aGg>aTg	p.R210M	CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	210					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GTTCACTGTCCTTCTCCCTGG	0.552																																						uc002bed.1		NaN																	0					0						c.(628-630)AGG>ATG		cholinergic receptor, nicotinic, beta 4							284.0	225.0	245.0					15																	78922018		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78922018C>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.629G>T	15.37:g.78922018C>A	ENSP00000261751:p.Arg210Met					CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.R28M	p.R210M	NM_000750	NP_000741	P30926	ACHB4_HUMAN			5	741	-			210			Extracellular (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.629G>T	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838114	0.50951	.	.	ENSG00000117971	ENST00000261751	T	0.80909	-1.43	5.05	4.13	0.48395	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90106	0.6909	M	0.87269	2.87	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.91462	0.5190	10	0.87932	D	0	.	13.4039	0.60900	0.0:0.9232:0.0:0.0768	.	210	P30926	ACHB4_HUMAN	M	210	ENSP00000261751:R210M	ENSP00000261751:R210M	R	-	2	0	CHRNB4	76709073	0.997000	0.39634	0.543000	0.28128	0.589000	0.36550	3.977000	0.56874	1.136000	0.42199	-0.192000	0.12808	AGG		0.552	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1				67	100	1	0	1.22047e-21	0.01441	1.62729e-21	67	100		
GP2	2813	broad.mit.edu	37	16	20322574	20322574	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:20322574G>T	ENST00000381362.4	-	12	1661	c.1585C>A	c.(1585-1587)Ctg>Atg	p.L529M	GP2_ENST00000381360.5_Missense_Mutation_p.L382M|GP2_ENST00000341642.5_Missense_Mutation_p.L379M|GP2_ENST00000302555.5_Missense_Mutation_p.L526M	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	529					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGACAGTCAGGAGGACCATA	0.522																																						uc002dgv.2		NaN																	0				ovary(3)|skin(1)	4						c.(1585-1587)CTG>ATG		zymogen granule membrane glycoprotein 2 isoform							143.0	137.0	139.0					16																	20322574		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20322574G>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1585C>A	16.37:g.20322574G>T	ENSP00000370767:p.Leu529Met					GP2_uc002dgw.2_Missense_Mutation_p.L526M|GP2_uc002dgx.2_Missense_Mutation_p.L382M|GP2_uc002dgy.2_Missense_Mutation_p.L379M	p.L529M	NM_001007240	NP_001007241	P55259	GP2_HUMAN			12	1668	-			529					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.1585C>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101681	0.37048	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.92699	-3.09;-3.08;-1.85;-1.86	4.99	1.54	0.23209	.	.	.	.	.	D	0.93743	0.8000	M	0.66939	2.045	0.30458	N	0.774548	D;D;P;D	0.76494	0.993;0.999;0.78;0.994	P;D;B;P	0.66196	0.858;0.942;0.192;0.77	D	0.88631	0.3169	9	0.49607	T	0.09	-0.6558	7.8228	0.29296	0.0:0.3397:0.4854:0.1749	.	379;507;526;529	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	M	526;529;382;379;507	ENSP00000304044:L526M;ENSP00000370767:L529M;ENSP00000370765:L382M;ENSP00000343861:L379M	ENSP00000304044:L526M	L	-	1	2	GP2	20230075	1.000000	0.71417	0.998000	0.56505	0.108000	0.19459	1.240000	0.32731	0.544000	0.28883	-0.188000	0.12872	CTG		0.522	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1		NM_016295		38	48	1	0	8.30282e-39	0.01441	1.26682e-38	38	48		
ZNF267	10308	broad.mit.edu	37	16	31927534	31927534	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:31927534C>G	ENST00000300870.10	+	4	2173	c.1964C>G	c.(1963-1965)aCt>aGt	p.T655S		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	655					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AGAAGTCATACTGGAGAGAGA	0.453																																						uc002ecs.3		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(1963-1965)ACT>AGT		zinc finger protein 267							83.0	82.0	83.0					16																	31927534		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927534C>G	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1964C>G	16.37:g.31927534C>G	ENSP00000300870:p.Thr655Ser						p.T655S	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	2173	+			655					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.1964C>G	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.314206	0.40996	.	.	ENSG00000185947	ENST00000300870	T	0.24151	1.87	0.468	0.468	0.16732	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13286	0.0322	N	0.17474	0.49	0.80722	D	1	P	0.35944	0.529	B	0.34489	0.184	T	0.09751	-1.0660	9	0.52906	T	0.07	.	6.7127	0.23286	0.0:0.9999:0.0:1.0E-4	.	655	Q14586	ZN267_HUMAN	S	655	ENSP00000300870:T655S	ENSP00000300870:T655S	T	+	2	0	ZNF267	31835035	0.674000	0.27549	0.687000	0.30102	0.653000	0.38743	1.522000	0.35921	0.488000	0.27723	0.491000	0.48974	ACT		0.453	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2		NM_003414		3	86	0	0	0	0.004672	0	3	86		
RPGRIP1L	23322	broad.mit.edu	37	16	53730066	53730066	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:53730066T>A	ENST00000379925.3	-	3	277	c.227A>T	c.(226-228)aAa>aTa	p.K76I	RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.K76I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.K76I|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.K76I|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.K76I|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.K76I	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	76					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCATAACCTTTTAATTTTATC	0.353																																						uc002ehp.2		NaN																	0				ovary(1)	1						c.(226-228)AAA>ATA		RPGRIP1-like isoform a							86.0	95.0	92.0					16																	53730066		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53730066T>A		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.227A>T	16.37:g.53730066T>A	ENSP00000369257:p.Lys76Ile					RPGRIP1L_uc002eho.3_Missense_Mutation_p.K76I|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.K76I|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.K76I|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.K76I|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.K76I|RPGRIP1L_uc010cby.1_Missense_Mutation_p.K76I	p.K76I	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			3	291	-		all_cancers(37;0.0973)	76			Potential.		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.227A>T	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084690	0.76642	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.80033	-1.33;-1.33	5.43	5.43	0.79202	.	0.052014	0.85682	D	0.000000	D	0.89911	0.6852	M	0.79693	2.465	0.36594	D	0.874254	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.994;0.994;0.979;0.997	D	0.93325	0.6696	10	0.87932	D	0	.	15.7683	0.78143	0.0:0.0:0.0:1.0	.	76;76;76;76	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	I	76	ENSP00000369257:K76I;ENSP00000262135:K76I	ENSP00000262135:K76I	K	-	2	0	RPGRIP1L	52287567	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.581000	0.53914	2.187000	0.69744	0.460000	0.39030	AAA		0.353	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1		NM_015272		31	47	0	0	0	0.021022	0	31	47		
CDYL2	124359	broad.mit.edu	37	16	80646693	80646693	+	Missense_Mutation	SNP	C	C	T	rs200689533		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:80646693C>T	ENST00000570137.2	-	5	1203	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	CDYL2_ENST00000563890.1_Missense_Mutation_p.V351M|CDYL2_ENST00000562812.1_Missense_Mutation_p.V351M|CDYL2_ENST00000566173.1_Missense_Mutation_p.V351M	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	350						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						ATGGCCACCACGATAGGCTTC	0.562																																						uc002ffs.2		NaN																	0				central_nervous_system(1)	1						c.(1048-1050)GTG>ATG		chromodomain protein, Y-like 2							70.0	68.0	68.0					16																	80646693		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80646693C>T	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1048G>A	16.37:g.80646693C>T	ENSP00000476295:p.Val350Met						p.V350M	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			5	1153	-			350					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.1048G>A	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378389	0.82682	.	.	ENSG00000166446	ENST00000299564	T	0.55930	0.49	5.02	5.02	0.67125	Crotonase, core (1);	0.074183	0.53938	D	0.000044	T	0.73885	0.3644	M	0.77820	2.39	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.77493	-0.2567	10	0.87932	D	0	.	17.4948	0.87714	0.0:1.0:0.0:0.0	.	350	Q8N8U2	CDYL2_HUMAN	M	350	ENSP00000299564:V350M	ENSP00000299564:V350M	V	-	1	0	CDYL2	79204194	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	4.797000	0.62503	2.597000	0.87782	0.650000	0.86243	GTG		0.562	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2		NM_152342		27	55	0	0	0	0.012213	0	27	55		
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:7576855G>A	ENST00000269305.4	-	9	1180	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*	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	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)	CTTAGTACCTGAAGGGTGAAA	0.448		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		34	Substitution - Nonsense(23)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)	p.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(1)	lung(6)|large_intestine(4)|urinary_tract(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|skin(2)|ovary(2)|stomach(1)|breast(1)|oesophagus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(991-993)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							115.0	108.0	110.0					17																	7576855		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576855G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.991C>T	17.37:g.7576855G>A	ENSP00000269305:p.Gln331*	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.2_Nonsense_Mutation_p.Q331*|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Nonsense_Mutation_p.Q199*|TP53_uc010cng.1_Nonsense_Mutation_p.Q199*|TP53_uc002gii.1_Nonsense_Mutation_p.Q199*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q331*|TP53_uc010cni.1_Nonsense_Mutation_p.Q331*|TP53_uc002gij.2_Nonsense_Mutation_p.Q331*	p.Q331*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1185	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	331		Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.991C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117678	0.77323	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.95	2.88	0.33553	.	0.253251	0.40469	N	0.001098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-17.7352	9.751	0.40475	0.0:0.0:0.4869:0.5131	.	.	.	.	X	331;331;331;331;331;320;199	.	ENSP00000269305:Q331X	Q	-	1	0	TP53	7517580	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.858000	0.39408	0.557000	0.29117	-0.314000	0.08810	CAG		0.448	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		26	44	0	0	0	0.008361	0	26	44		
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.C176F	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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		267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(526-528)TGC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	49.0	49.0					17																	7578403		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578403C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F	p.C176F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	721	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.527G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		31	32	1	0	1.8453e-21	0.010771	2.43843e-21	31	32		
DNAH9	1770	broad.mit.edu	37	17	11584169	11584169	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:11584169C>A	ENST00000262442.4	+	19	3774	c.3706C>A	c.(3706-3708)Caa>Aaa	p.Q1236K	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1236K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1236	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAACAGCAGCAATTCTGGGA	0.527																																						uc002gne.2		NaN																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(3706-3708)CAA>AAA		dynein, axonemal, heavy chain 9 isoform 2							65.0	54.0	58.0					17																	11584169		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11584169C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3706C>A	17.37:g.11584169C>A	ENSP00000262442:p.Gln1236Lys					DNAH9_uc010coo.2_Missense_Mutation_p.Q530K	p.Q1236K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	19	3774	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1236			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3706C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	8.882	0.951777	0.18431	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.19394	2.15;2.15	5.37	2.1	0.27182	.	1.147120	0.06507	N	0.737402	T	0.15998	0.0385	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.26326	-1.0106	10	0.15066	T	0.55	.	9.1136	0.36744	0.2596:0.5385:0.2018:0.0	.	1236	Q9NYC9	DYH9_HUMAN	K	1236	ENSP00000262442:Q1236K;ENSP00000414874:Q1236K	ENSP00000262442:Q1236K	Q	+	1	0	DNAH9	11524894	0.000000	0.05858	0.976000	0.42696	0.980000	0.70556	0.120000	0.15647	1.392000	0.46585	0.563000	0.77884	CAA		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372		10	17	1	0	0.000978159	0.010729	0.00101949	10	17		
TOP2A	7153	broad.mit.edu	37	17	38564286	38564286	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:38564286C>G	ENST00000423485.1	-	12	1591	c.1433G>C	c.(1432-1434)aGa>aCa	p.R478T		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	478	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATATTTGTCTCTCCCAACCAC	0.428																																						uc002huq.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1432-1434)AGA>ACA		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						74.0	73.0	73.0					17																	38564286		1825	4085	5910	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38564286C>G		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1433G>C	17.37:g.38564286C>G	ENSP00000411532:p.Arg478Thr					TOP2A_uc002hur.1_Missense_Mutation_p.R119T	p.R478T	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		12	1559	-		Breast(137;0.00328)	478					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1433G>C	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579154	0.86645	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.40756	1.02	5.46	4.49	0.54785	DNA topoisomerase, type IIA, subunit B/N-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.043664	0.85682	D	0.000000	T	0.75184	0.3815	H	0.97962	4.115	0.80722	D	1	D	0.55385	0.971	D	0.63033	0.91	D	0.84885	0.0833	10	0.87932	D	0	.	14.2173	0.65802	0.0:0.9281:0.0:0.0719	.	478	P11388	TOP2A_HUMAN	T	478;558;501;514	ENSP00000411532:R478T	ENSP00000269577:R558T	R	-	2	0	TOP2A	35817812	1.000000	0.71417	0.968000	0.41197	0.991000	0.79684	7.800000	0.85949	1.320000	0.45209	0.561000	0.74099	AGA		0.428	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1				19	37	0	0	0	0.014323	0	19	37		
EME1	146956	broad.mit.edu	37	17	48452831	48452831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:48452831G>T	ENST00000338165.4	+	2	344	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	MRPL27_ENST00000507088.1_5'Flank|MRPL27_ENST00000442592.3_5'Flank|EME1_ENST00000511648.2_Nonsense_Mutation_p.E88*|MRPL27_ENST00000503633.1_5'Flank|MRPL27_ENST00000225969.4_5'Flank|EME1_ENST00000393271.2_Nonsense_Mutation_p.E88*	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	88					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CAGTGAAAGTGAAGATGAAGA	0.463								Direct reversal of damage;Homologous recombination																														uc002iqs.1		NaN																	0					0						c.(262-264)GAA>TAA	Direct_reversal_of_damage|Homologous_recombination	essential meiotic endonuclease 1 homolog 1							89.0	88.0	88.0					17																	48452831		2203	4300	6503	SO:0001587	stop_gained	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48452831G>T	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.262G>T	17.37:g.48452831G>T	ENSP00000339897:p.Glu88*					MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Nonsense_Mutation_p.E88*	p.E88*	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		2	335	+	Breast(11;5.62e-19)		88					Q96N62	Nonsense_Mutation	SNP	ENST00000338165.4	37	c.262G>T	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308175	0.60305	.	.	ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511519;ENST00000511648	.	.	.	5.63	4.67	0.58626	.	0.314127	0.29152	N	0.012984	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-1.1233	12.5612	0.56281	0.0775:0.0:0.9225:0.0	.	.	.	.	X	88	.	ENSP00000339897:E88X	E	+	1	0	EME1	45807830	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	5.631000	0.67812	1.396000	0.46663	-0.140000	0.14226	GAA		0.463	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3		NM_152463		37	53	1	0	8.86878e-18	0.01441	1.12186e-17	37	53		
USP32	84669	broad.mit.edu	37	17	58268030	58268030	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:58268030C>A	ENST00000300896.4	-	29	3730	c.3536G>T	c.(3535-3537)tGt>tTt	p.C1179F	USP32_ENST00000592339.1_Missense_Mutation_p.C849F	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1179	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATCAATTTTACAGCCTCTGCA	0.393																																						uc002iyo.1		NaN																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(3535-3537)TGT>TTT		ubiquitin specific protease 32							108.0	114.0	112.0					17																	58268030		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58268030C>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3536G>T	17.37:g.58268030C>A	ENSP00000300896:p.Cys1179Phe					USP32_uc002iyn.1_Missense_Mutation_p.C849F	p.C1179F	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		29	3822	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1179					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.3536G>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521616	0.85600	.	.	ENSG00000170832	ENST00000300896	T	0.58060	0.36	5.38	5.38	0.77491	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	L	0.60957	1.885	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.70421	-0.4876	10	0.54805	T	0.06	.	19.5049	0.95111	0.0:1.0:0.0:0.0	.	1179	Q8NFA0	UBP32_HUMAN	F	1179	ENSP00000300896:C1179F	ENSP00000300896:C1179F	C	-	2	0	USP32	55622812	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.739000	0.84976	2.683000	0.91414	0.650000	0.86243	TGT		0.393	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2		NM_032582		39	55	1	0	2.77807e-22	0.013114	3.73777e-22	39	55		
SDK2	54549	broad.mit.edu	37	17	71390398	71390398	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:71390398A>G	ENST00000392650.3	-	26	3658	c.3658T>C	c.(3658-3660)Tgg>Cgg	p.W1220R	SDK2_ENST00000388726.3_Missense_Mutation_p.W1220R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1220	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCTCGCTCCAGCGCACCAGC	0.652																																						uc010dfm.2		NaN																	0				ovary(2)	2						c.(3658-3660)TGG>CGG		sidekick 2							47.0	41.0	43.0					17																	71390398		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71390398A>G	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3658T>C	17.37:g.71390398A>G	ENSP00000376421:p.Trp1220Arg					SDK2_uc002jjt.3_Missense_Mutation_p.W379R|SDK2_uc010dfn.2_Missense_Mutation_p.W899R	p.W1220R	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			26	3658	-			1220			Fibronectin type-III 7.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3658T>C	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.972457	0.74246	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	D;D;D	0.84223	-1.82;-1.82;-1.82	5.01	5.01	0.66863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95239	0.8456	H	0.98155	4.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96905	0.9663	10	0.87932	D	0	.	14.4054	0.67079	1.0:0.0:0.0:0.0	.	1220;1220;1220	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	R	844;1220;1220;396;1220	ENSP00000376421:W1220R;ENSP00000373378:W1220R;ENSP00000407098:W396R	ENSP00000324967:W1220R	W	-	1	0	SDK2	68901993	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.059000	0.76684	1.900000	0.55004	0.260000	0.18958	TGG		0.652	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2		NM_019064		16	16	0	0	0	0.012319	0	16	16		
ARHGDIA	396	broad.mit.edu	37	17	79826899	79826899	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:79826899G>A	ENST00000269321.7	-	6	603	c.468C>T	c.(466-468)taC>taT	p.Y156Y	RP11-498C9.3_ENST00000576554.1_RNA|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000581876.1_Silent_p.Y81Y|ARHGDIA_ENST00000541078.2_Silent_p.Y156Y|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000400721.4_Intron|ARHGDIA_ENST00000584461.1_Silent_p.Y156Y|ARHGDIA_ENST00000580685.1_Silent_p.Y156Y	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	156					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCAGGAACTCGTACTCCTCGG	0.652																																						uc002kbp.2		NaN																	0					0						c.(466-468)TAC>TAT		Rho GDP dissociation inhibitor (GDI) alpha							56.0	51.0	53.0					17																	79826899		2203	4300	6503	SO:0001819	synonymous_variant	396				anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity	g.chr17:79826899G>A	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.468C>T	17.37:g.79826899G>A						ARHGDIA_uc002kjk.1_Silent_p.Y31Y|ARHGDIA_uc002kbq.2_Silent_p.Y156Y|ARHGDIA_uc002kbr.2_Intron|ARHGDIA_uc002kbs.1_Intron|ARHGDIA_uc002kbt.1_Silent_p.Y156Y|ARHGDIA_uc010dig.1_RNA	p.Y156Y	NM_004309	NP_004300	P52565	GDIR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	507	-	all_neural(118;0.0878)|Ovarian(332;0.12)		156					A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Silent	SNP	ENST00000269321.7	37	c.468C>T	CCDS11788.1																																																																																				0.652	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2		NM_004309		21	24	0	0	0	0.021523	0	21	24		
NPC1	4864	broad.mit.edu	37	18	21119389	21119389	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr18:21119389G>A	ENST00000269228.5	-	19	3395	c.2841C>T	c.(2839-2841)ttC>ttT	p.F947F	NPC1_ENST00000412552.2_Silent_p.F629F|NPC1_ENST00000540608.1_5'Flank	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	947					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCACCCAGTCGAAATAATCGT	0.502																																						uc002kum.3		NaN																	0				ovary(2)	2						c.(2839-2841)TTC>TTT		Niemann-Pick disease, type C1 precursor							69.0	61.0	64.0					18																	21119389		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21119389G>A	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2841C>T	18.37:g.21119389G>A						NPC1_uc010xaz.1_Silent_p.F680F	p.F947F	NM_000271	NP_000262	O15118	NPC1_HUMAN			19	3115	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		947					B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.2841C>T	CCDS11878.1																																																																																				0.502	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2		NM_000271		21	31	0	0	0	0.00632	0	21	31		
MISP	126353	broad.mit.edu	37	19	758421	758421	+	Missense_Mutation	SNP	C	C	T	rs112598403		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:758421C>T	ENST00000215582.6	+	2	1578	c.1475C>T	c.(1474-1476)cCg>cTg	p.P492L		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	492					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CGGGGATGCCCGCAAGCCAAC	0.632																																						uc002lpo.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1474-1476)CCG>CTG		hypothetical protein LOC126353							42.0	44.0	43.0					19																	758421		2203	4300	6503	SO:0001583	missense	126353							g.chr19:758421C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1475C>T	19.37:g.758421C>T	ENSP00000215582:p.Pro492Leu						p.P492L	NM_173481	NP_775752	Q8IVT2	CS021_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1558	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)	492						Missense_Mutation	SNP	ENST00000215582.6	37	c.1475C>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	4.351	0.064606	0.08388	.	.	ENSG00000099812	ENST00000215582	T	0.26957	1.7	3.44	-6.88	0.01665	.	2.434350	0.02289	N	0.070101	T	0.07052	0.0179	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35525	-0.9785	10	0.06494	T	0.89	-2.6894	9.276	0.37700	0.0:0.654:0.1641:0.1818	.	492	Q8IVT2	CS021_HUMAN	L	492	ENSP00000215582:P492L	ENSP00000215582:P492L	P	+	2	0	C19orf21	709421	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.946000	0.00328	-1.584000	0.01636	-0.458000	0.05436	CCG		0.632	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2		NM_173481		25	4	0	0	0	0.013726	0	25	4		
ZNF57	126295	broad.mit.edu	37	19	2917961	2917961	+	Missense_Mutation	SNP	C	C	T	rs534402623		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:2917961C>T	ENST00000306908.5	+	4	1490	c.1342C>T	c.(1342-1344)Cat>Tat	p.H448Y	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.H416Y	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCAGCTCCATAAATGTGA	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		23453	0.0		0.0	False		,,,				2504	0.001				NSCLC(150;910 1964 4303 10464 26498)	uc002lwr.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1342-1344)CAT>TAT		zinc finger protein 57							113.0	102.0	106.0					19																	2917961		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917961C>T	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1342C>T	19.37:g.2917961C>T	ENSP00000303696:p.His448Tyr					ZNF57_uc010xha.1_Missense_Mutation_p.H416Y	p.H448Y	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1490	+			448			C2H2-type 11.		Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1342C>T	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.192443	0.00302	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.14144	2.53;2.53	1.85	0.758	0.18432	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02610	0.0079	N	0.00514	-1.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43442	-0.9391	9	0.02654	T	1	.	5.1619	0.15066	0.0:0.1726:0.0:0.8274	.	448	Q68EA5	ZNF57_HUMAN	Y	448;450;416	ENSP00000303696:H448Y;ENSP00000430223:H416Y	ENSP00000303696:H448Y	H	+	1	0	ZNF57	2868961	.	.	0.002000	0.10522	0.084000	0.17831	.	.	0.004000	0.14682	-0.514000	0.04452	CAT		0.443	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1		NM_173480		5	43	0	0	0	0.014758	0	5	43		
ZNF57	126295	broad.mit.edu	37	19	2917975	2917975	+	Missense_Mutation	SNP	C	C	A	rs559061011		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:2917975C>A	ENST00000306908.5	+	4	1504	c.1356C>A	c.(1354-1356)caC>caA	p.H452Q	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.H420Q	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGTGAACACTGTGGGAAGG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		23656	0.0		0.0	False		,,,				2504	0.001				NSCLC(150;910 1964 4303 10464 26498)	uc002lwr.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1354-1356)CAC>CAA		zinc finger protein 57							113.0	102.0	106.0					19																	2917975		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917975C>A	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1356C>A	19.37:g.2917975C>A	ENSP00000303696:p.His452Gln					ZNF57_uc010xha.1_Missense_Mutation_p.H420Q	p.H452Q	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1504	+			452			C2H2-type 11.		Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1356C>A	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	C	0.105	-1.146406	0.01714	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.07327	3.2;3.2	2.57	-5.14	0.02875	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01765	0.0056	N	0.01482	-0.84	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.34079	-0.9843	9	0.06365	T	0.9	.	1.8679	0.03202	0.3136:0.4085:0.1362:0.1416	.	452	Q68EA5	ZNF57_HUMAN	Q	452;454;420	ENSP00000303696:H452Q;ENSP00000430223:H420Q	ENSP00000303696:H452Q	H	+	3	2	ZNF57	2868975	.	.	0.000000	0.03702	0.120000	0.20174	.	.	-2.159000	0.00787	-0.449000	0.05564	CAC		0.428	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1		NM_173480		4	43	1	0	0.00024832	0.009096	0.00026251	4	43		
MUC16	94025	broad.mit.edu	37	19	9085867	9085867	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:9085867G>A	ENST00000397910.4	-	1	6151	c.5948C>T	c.(5947-5949)tCc>tTc	p.S1983F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1983	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTGAGTGGACTGTTCAAT	0.478																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(5947-5949)TCC>TTC		mucin 16							182.0	176.0	178.0					19																	9085867		2036	4198	6234	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085867G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5948C>T	19.37:g.9085867G>A	ENSP00000381008:p.Ser1983Phe						p.S1983F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6152	-			1983			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.5948C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.555586	0.00918	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.49303	-0.8954	7	0.87932	D	0	.	.	.	.	.	1983	B5ME49	.	F	1983	ENSP00000381008:S1983F	ENSP00000381008:S1983F	S	-	2	0	MUC16	8946867	0.000000	0.05858	0.158000	0.22627	0.161000	0.22273	-1.615000	0.02055	-1.808000	0.01234	-1.786000	0.00637	TCC		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		58	34	0	0	0	0.01441	0	58	34		
ANGPTL6	83854	broad.mit.edu	37	19	10206748	10206748	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:10206748G>A	ENST00000253109.4	-	2	730	c.492C>T	c.(490-492)ttC>ttT	p.F164F	ANGPTL6_ENST00000589181.1_Silent_p.F164F|ANGPTL6_ENST00000592641.1_Silent_p.F164F	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	164					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CCAGCTCGCGGAACTTGACGT	0.741																																						uc002mmx.1		NaN																	0					0						c.(490-492)TTC>TTT		angiopoietin-like 6 precursor							8.0	9.0	9.0					19																	10206748		1874	3710	5584	SO:0001819	synonymous_variant	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10206748G>A	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.492C>T	19.37:g.10206748G>A						ANGPTL6_uc002mmy.1_Silent_p.F164F	p.F164F	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		2	610	-			164					A5PKV7|Q9BZZ0	Silent	SNP	ENST00000253109.4	37	c.492C>T	CCDS12224.1																																																																																				0.741	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1		NM_031917		11	12	0	0	0	0.008871	0	11	12		
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:12429722T>C	ENST00000293725.5	-	4	1322	c.1117A>G	c.(1117-1119)Acg>Gcg	p.T373A		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	373					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(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGTTTTCCCACAC	0.413																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.2		NaN																	0					0						c.(1117-1119)ACG>GCG		zinc finger protein 563							191.0	181.0	184.0					19																	12429722		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429722T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1117A>G	19.37:g.12429722T>C	ENSP00000293725:p.Thr373Ala						p.T373A	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			4	1355	-			373			C2H2-type 9.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.1117A>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.253024	0.00268	.	.	ENSG00000188868	ENST00000293725	T	0.03745	3.82	1.0	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01320	0.0043	N	0.05259	-0.085	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	.	2.3025	0.04165	0.3613:0.2701:0.0:0.3686	.	373	Q8TA94	ZN563_HUMAN	A	373	ENSP00000293725:T373A	ENSP00000293725:T373A	T	-	1	0	ZNF563	12290722	0.000000	0.05858	0.003000	0.11579	0.233000	0.25261	-3.012000	0.00647	-0.501000	0.06605	-0.765000	0.03448	ACG		0.413	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1		NM_145276		5	167	0	0	0	0.00308	0	5	167		
RPL18A	6142	broad.mit.edu	37	19	17972200	17972200	+	Silent	SNP	C	C	A	rs372248330		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:17972200C>A	ENST00000222247.5	+	2	198	c.117C>A	c.(115-117)gtC>gtA	p.V39V	SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000599870.1_Silent_p.V10V|RPL18A_ENST00000600147.1_Silent_p.V39V|RPL18A_ENST00000599898.1_Intron	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	39					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						ATCATGTCGTCGCCAAGTCCC	0.552																																						uc002nhp.1		NaN																	0					0						c.(115-117)GTC>GTA		ribosomal protein L18a		C		0,4404		0,0,2202	39.0	38.0	38.0		117	-8.2	0.1	19		38	1,8557	1.2+/-3.3	0,1,4278	no	coding-synonymous	RPL18A	NM_000980.2		0,1,6480	AA,AC,CC		0.0117,0.0,0.0077		39/177	17972200	1,12961	2202	4279	6481	SO:0001819	synonymous_variant	6142				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:17972200C>A	AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"""L ribosomal proteins"""	10311	protein-coding gene	gene with protein product	"""60S ribosomal protein L18a"", ""ribosomal protein L18a-like protein"""	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.117C>A	19.37:g.17972200C>A						SNORA68_uc002nhq.1_5'Flank	p.V39V	NM_000980	NP_000971	Q02543	RL18A_HUMAN			2	152	+			39						Silent	SNP	ENST00000222247.5	37	c.117C>A	CCDS12367.1																																																																																				0.552	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1		NM_000980		11	9	1	0	2.32078e-09	0.003163	2.62196e-09	11	9		
ZNF536	9745	broad.mit.edu	37	19	31040189	31040189	+	Silent	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:31040189G>T	ENST00000355537.3	+	4	3810	c.3663G>T	c.(3661-3663)ctG>ctT	p.L1221L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1221					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCAGGGACTGGTCTCACCTT	0.647																																						uc002nsu.1		NaN																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3661-3663)CTG>CTT		zinc finger protein 536							42.0	40.0	41.0					19																	31040189		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040189G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3663G>T	19.37:g.31040189G>T						ZNF536_uc010edd.1_Silent_p.L1221L	p.L1221L	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3801	+	Esophageal squamous(110;0.0834)		1221					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3663G>T	CCDS32984.1																																																																																				0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717		25	26	1	0	4.62619e-21	0.019004	6.05908e-21	25	26		
ZNF573	126231	broad.mit.edu	37	19	38262256	38262256	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:38262256C>T	ENST00000590414.2	-	2	171	c.150G>A	c.(148-150)agG>agA	p.R50R	ZNF573_ENST00000339503.4_5'UTR|ZNF573_ENST00000357309.3_Intron|ZNF573_ENST00000536220.1_5'UTR|ZNF573_ENST00000392138.1_5'UTR|ZNF573_ENST00000585724.1_Intron			Q86YE8	ZN573_HUMAN	zinc finger protein 573	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGTATAAGTCCCTCTGATTAG	0.418																																						uc002ohe.2		NaN																	0				ovary(1)	1						c.(148-150)AGG>AGA		zinc finger protein 573																																				SO:0001819	synonymous_variant	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38262256C>T	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.150G>A	19.37:g.38262256C>T						ZNF573_uc010efs.2_5'UTR|ZNF573_uc002ohd.2_Silent_p.R48R|ZNF573_uc002ohf.2_5'UTR|ZNF573_uc002ohg.2_5'UTR	p.R50R	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		2	172	-			30			KRAB.		B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Silent	SNP	ENST00000590414.2	37	c.150G>A	CCDS59381.1																																																																																				0.418	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2		NM_152360		16	24	0	0	0	0.006122	0	16	24		
RYR1	6261	broad.mit.edu	37	19	38966040	38966040	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:38966040G>A	ENST00000359596.3	+	29	4243	c.4243G>A	c.(4243-4245)Gtg>Atg	p.V1415M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1415M|RYR1_ENST00000355481.4_Missense_Mutation_p.V1415M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1415	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCACGACGTGGTGCCTGCAGA	0.607																																						uc002oit.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(4243-4245)GTG>ATG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						57.0	46.0	50.0					19																	38966040		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38966040G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4243G>A	19.37:g.38966040G>A	ENSP00000352608:p.Val1415Met					RYR1_uc002oiu.2_Missense_Mutation_p.V1415M	p.V1415M	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		29	4373	+	all_cancers(60;7.91e-06)		1415			Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.4243G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834793	0.32421	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96967	-4.19;-4.19;-4.19	5.12	4.08	0.47627	B30.2/SPRY domain (1);	0.000000	0.64402	U	0.000014	D	0.96703	0.8924	L	0.45137	1.4	0.41720	D	0.989507	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.964	D	0.96535	0.9396	10	0.52906	T	0.07	.	12.8032	0.57598	0.0813:0.0:0.9187:0.0	.	1415;1415	P21817-2;P21817	.;RYR1_HUMAN	M	1415	ENSP00000352608:V1415M;ENSP00000347667:V1415M;ENSP00000354254:V1415M	ENSP00000347667:V1415M	V	+	1	0	RYR1	43657880	1.000000	0.71417	0.939000	0.37840	0.082000	0.17680	4.753000	0.62183	1.162000	0.42619	0.462000	0.41574	GTG		0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				19	30	0	0	0	0.016522	0	19	30		
GRIK5	2901	broad.mit.edu	37	19	42526200	42526200	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:42526200C>A	ENST00000262895.3	-	13	1595	c.1596G>T	c.(1594-1596)aaG>aaT	p.K532N	GRIK5_ENST00000301218.4_Missense_Mutation_p.K532N|GRIK5_ENST00000593562.1_Missense_Mutation_p.K532N	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	532					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				AGTAGCCAGGCTTGCGGCCCT	0.652																																						uc002osj.1		NaN																	0					0						c.(1594-1596)AAG>AAT		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						93.0	82.0	86.0					19																	42526200		2197	4298	6495	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42526200C>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1596G>T	19.37:g.42526200C>A	ENSP00000262895:p.Lys532Asn					GRIK5_uc002osi.1_Missense_Mutation_p.K104N|GRIK5_uc010eib.1_Missense_Mutation_p.K451N	p.K532N	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			13	1631	-		Prostate(69;0.059)	532			Extracellular (Potential).		Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.1596G>T	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634997	0.29068	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.13196	2.66;2.61	3.69	2.61	0.31194	Ionotropic glutamate receptor (1);	0.141246	0.45867	D	0.000334	T	0.12178	0.0296	L	0.39147	1.195	0.47407	D	0.999417	P	0.41910	0.764	B	0.43225	0.412	T	0.11991	-1.0565	10	0.19590	T	0.45	.	10.4031	0.44241	0.0:0.8968:0.0:0.1032	.	532	Q16478	GRIK5_HUMAN	N	532	ENSP00000262895:K532N;ENSP00000301218:K532N	ENSP00000262895:K532N	K	-	3	2	GRIK5	47218040	0.998000	0.40836	1.000000	0.80357	0.881000	0.50899	0.638000	0.24674	1.904000	0.55121	0.467000	0.42956	AAG		0.652	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1				13	18	1	0	6.31663e-08	0.003163	6.97657e-08	13	18		
NOVA2	4858	broad.mit.edu	37	19	46443268	46443268	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:46443268C>T	ENST00000263257.5	-	4	1526	c.1332G>A	c.(1330-1332)aaG>aaA	p.K444K		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	444	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		ACTCGCCCTTCTTGGAGATCT	0.657																																						uc002pdv.2		NaN																	0					0						c.(1330-1332)AAG>AAA		neuro-oncological ventral antigen 2							96.0	100.0	99.0					19																	46443268		2203	4300	6503	SO:0001819	synonymous_variant	4858					nucleus	RNA binding	g.chr19:46443268C>T	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1332G>A	19.37:g.46443268C>T							p.K444K	NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	1380	-		all_neural(266;0.113)|Ovarian(192;0.127)	444			KH 3.		O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	c.1332G>A	CCDS12679.1																																																																																				0.657	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2		NM_002516		68	118	0	0	0	0.01441	0	68	118		
ZNF845	91664	broad.mit.edu	37	19	53855364	53855365	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:53855364_53855365CA>TG	ENST00000595091.1	+	5	1655_1656	c.1436_1437CA>TG	c.(1435-1437)aCA>aTG	p.T479M	ZNF845_ENST00000458035.1_Missense_Mutation_p.T479M			Q96IR2	ZN845_HUMAN	zinc finger protein 845	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGACATCATCCCTTG	0.381																																						uc010ydv.1		NaN																	0					0						c.(1435-1437)ACA>ATG		zinc finger protein 845																																				SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855364_53855365CA>TG	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		Exception_encountered	19.37:g.53855364_53855365delinsTG	ENSP00000470005:p.Thr479Met					ZNF845_uc010ydw.1_Missense_Mutation_p.T479M	p.T479M	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	1553_1554	+			479			C2H2-type 10.			Missense_Mutation	DNP	ENST00000595091.1	37	c.1436_1437CA>TG	CCDS46170.1																																																																																				0.381	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		XM_039908		4	94	0	0	0	0.004672	0	4	94		
ZNF761	388561	broad.mit.edu	37	19	53958879	53958879	+	RNA	SNP	A	A	G	rs543658141		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:53958879A>G	ENST00000454407.1	+	0	1571							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCATAGACTTCAT	0.428													N|||	1	0.000199681	0.0	0.0	5008	,	,		23718	0.0		0.0	False		,,,				2504	0.001					uc010eqp.2		NaN																	0				ovary(1)	1						c.(1117-1119)CAT>CGT		zinc finger protein 761							165.0	164.0	164.0					19																	53958879		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958879A>G	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958879A>G						ZNF761_uc010ydy.1_Missense_Mutation_p.H319R|ZNF761_uc002qbt.1_Missense_Mutation_p.H319R	p.H373R	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1576	+			373			C2H2-type 6.		Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.1118A>G																																																																																					0.428	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript			NM_001008401		8	232	0	0	0	0.008291	0	8	232		
ZNF761	388561	broad.mit.edu	37	19	53958910	53958910	+	RNA	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:53958910A>G	ENST00000454407.1	+	0	1602							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K329K(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AACCCTACAAATGTAATGAGT	0.413																																						uc010eqp.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)	1						c.(1147-1149)AAA>AAG		zinc finger protein 761							156.0	156.0	156.0					19																	53958910		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958910A>G	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958910A>G						ZNF761_uc010ydy.1_Silent_p.K329K|ZNF761_uc002qbt.1_Silent_p.K329K	p.K383K	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1607	+			383			C2H2-type 7.		Q6ZNB9	Silent	SNP	ENST00000454407.1	37	c.1149A>G																																																																																					0.413	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript			NM_001008401		5	227	0	0	0	0.006214	0	5	227		
NLRP11	204801	broad.mit.edu	37	19	56297208	56297208	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:56297208G>T	ENST00000589093.1	-	10	2978	c.2885C>A	c.(2884-2886)aCc>aAc	p.T962N	NLRP11_ENST00000443188.1_Missense_Mutation_p.T962N|NLRP11_ENST00000360133.3_Missense_Mutation_p.T908N|NLRP11_ENST00000589824.2_Missense_Mutation_p.T908N|NLRP11_ENST00000592953.1_Missense_Mutation_p.T863N			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	962							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAACTGCTGGGTTTGTGTGTT	0.433																																						uc010ygf.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2884-2886)ACC>AAC		NLR family, pyrin domain containing 11							66.0	65.0	66.0					19																	56297208		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56297208G>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2885C>A	19.37:g.56297208G>T	ENSP00000466285:p.Thr962Asn					NLRP11_uc002qlz.2_Missense_Mutation_p.T809N|NLRP11_uc002qmb.2_Missense_Mutation_p.T863N|NLRP11_uc002qmc.2_RNA	p.T962N	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	12	3596	-		Colorectal(82;0.0002)	962					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2885C>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800120	0.31869	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.52983	0.64;0.64	1.4	1.4	0.22301	.	.	.	.	.	T	0.61702	0.2368	M	0.72479	2.2	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.76575	0.987;0.988	T	0.44605	-0.9317	9	0.59425	D	0.04	.	6.2175	0.20663	0.0:0.0:1.0:0.0	.	962;908	P59045;P59045-2	NAL11_HUMAN;.	N	962;908	ENSP00000409898:T962N;ENSP00000353251:T908N	ENSP00000353251:T908N	T	-	2	0	NLRP11	60989020	0.010000	0.17322	0.022000	0.16811	0.020000	0.10135	0.476000	0.22180	1.095000	0.41419	0.655000	0.94253	ACC		0.433	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1		NM_145007		18	28	1	0	0.00074312	0.006122	0.000780013	18	28		
C2orf42	54980	broad.mit.edu	37	2	70392226	70392226	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:70392226C>T	ENST00000264434.2	-	8	1730	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	C2orf42_ENST00000420306.1_Missense_Mutation_p.E451K	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	451										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						ACTCTCACCTCTGGGGTATCT	0.428																																						uc002sgh.2		NaN																	0					0						c.(1351-1353)GAG>AAG		hypothetical protein LOC54980							103.0	111.0	108.0					2																	70392226		2203	4300	6503	SO:0001583	missense	54980							g.chr2:70392226C>T	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1351G>A	2.37:g.70392226C>T	ENSP00000264434:p.Glu451Lys						p.E451K	NM_017880	NP_060350	Q9NWW7	CB042_HUMAN			8	1679	-			451					D6W5G3|Q9H629	Missense_Mutation	SNP	ENST00000264434.2	37	c.1351G>A	CCDS1899.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700122	0.88924	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	D;D	0.93019	-3.15;-3.15	6.06	6.06	0.98353	.	0.049679	0.85682	D	0.000000	D	0.89553	0.6748	L	0.38175	1.15	0.40265	D	0.97822	B	0.32101	0.356	B	0.30401	0.115	D	0.88014	0.2764	10	0.46703	T	0.11	-8.958	14.7549	0.69557	0.0:0.8557:0.1443:0.0	.	451	Q9NWW7	CB042_HUMAN	K	451	ENSP00000264434:E451K;ENSP00000404515:E451K	ENSP00000264434:E451K	E	-	1	0	C2orf42	70245730	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	4.308000	0.59129	2.882000	0.98803	0.655000	0.94253	GAG		0.428	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1		NM_017880		44	55	0	0	0	0.01441	0	44	55		
C2orf42	54980	broad.mit.edu	37	2	70392294	70392294	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:70392294C>G	ENST00000264434.2	-	8	1662	c.1283G>C	c.(1282-1284)gGa>gCa	p.G428A	C2orf42_ENST00000420306.1_Missense_Mutation_p.G428A	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	428										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GGAAAAGGTTCCCAGTGGCAA	0.353																																						uc002sgh.2		NaN																	0					0						c.(1282-1284)GGA>GCA		hypothetical protein LOC54980							94.0	100.0	98.0					2																	70392294		2203	4300	6503	SO:0001583	missense	54980							g.chr2:70392294C>G	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1283G>C	2.37:g.70392294C>G	ENSP00000264434:p.Gly428Ala						p.G428A	NM_017880	NP_060350	Q9NWW7	CB042_HUMAN			8	1611	-			428					D6W5G3|Q9H629	Missense_Mutation	SNP	ENST00000264434.2	37	c.1283G>C	CCDS1899.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896893	0.91962	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	D;D	0.92495	-3.05;-3.05	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.95085	0.8408	L	0.50333	1.59	0.52501	D	0.999955	D	0.76494	0.999	D	0.83275	0.996	D	0.94812	0.7979	10	0.66056	D	0.02	-28.8521	19.1847	0.93639	0.0:1.0:0.0:0.0	.	428	Q9NWW7	CB042_HUMAN	A	428	ENSP00000264434:G428A;ENSP00000404515:G428A	ENSP00000264434:G428A	G	-	2	0	C2orf42	70245798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.366000	0.59492	2.882000	0.98803	0.655000	0.94253	GGA		0.353	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1		NM_017880		28	30	0	0	0	0.009535	0	28	30		
ZNF638	27332	broad.mit.edu	37	2	71651159	71651159	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:71651159C>A	ENST00000409544.1	+	22	5145	c.4515C>A	c.(4513-4515)agC>agA	p.S1505R	ZNF638_ENST00000264447.4_Missense_Mutation_p.S1505R|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.S445R	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1505					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGGATGACAGCAACAATAAGG	0.433																																						uc002shx.2		NaN																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(4513-4515)AGC>AGA		zinc finger protein 638							52.0	51.0	51.0					2																	71651159		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71651159C>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4515C>A	2.37:g.71651159C>A	ENSP00000386433:p.Ser1505Arg					ZNF638_uc010yqw.1_Missense_Mutation_p.S1084R|ZNF638_uc002shy.2_Missense_Mutation_p.S1505R|ZNF638_uc002shz.2_Missense_Mutation_p.S1505R|ZNF638_uc002sia.2_Missense_Mutation_p.S1505R|ZNF638_uc002sib.1_Intron|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.S602R|ZNF638_uc002sid.2_Intron	p.S1505R	NM_014497	NP_055312	Q14966	ZN638_HUMAN			22	4834	+			1505					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.4515C>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741679	0.69304	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.37915	1.17;1.17;1.52	5.72	5.72	0.89469	.	0.091794	0.48767	D	0.000180	T	0.49064	0.1535	L	0.36672	1.1	0.80722	D	1	P;D;D	0.71674	0.906;0.964;0.998	P;P;D	0.75484	0.621;0.625;0.986	T	0.24512	-1.0158	10	0.28530	T	0.3	-0.7411	15.3808	0.74654	0.0:1.0:0.0:0.0	.	1505;1505;1505	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	R	1505;1505;445;445	ENSP00000264447:S1505R;ENSP00000386433:S1505R;ENSP00000386813:S445R	ENSP00000264447:S1505R	S	+	3	2	ZNF638	71504667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.441000	0.52893	2.700000	0.92200	0.563000	0.77884	AGC		0.433	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1		NM_014497		15	28	1	0	8.28177e-16	0.007413	1.02142e-15	15	28		
GCFC2	6936	broad.mit.edu	37	2	75915023	75915023	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:75915023C>T	ENST00000321027.3	-	11	1753	c.1620G>A	c.(1618-1620)aaG>aaA	p.K540K	GCFC2_ENST00000409857.3_Silent_p.K502K|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	540					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										TACTTTCCTTCTTTGAATCTT	0.338																																						uc002sno.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1618-1620)AAG>AAA		hypothetical protein LOC6936							78.0	82.0	81.0					2																	75915023		2203	4297	6500	SO:0001819	synonymous_variant	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75915023C>T	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1620G>A	2.37:g.75915023C>T						C2orf3_uc010ffs.2_Silent_p.K102K|C2orf3_uc002snn.2_Silent_p.K371K|C2orf3_uc010fft.2_Silent_p.K215K	p.K540K	NM_003203	NP_003194	P16383	GCF_HUMAN			11	1750	-			540					A4UHQ8|O95032|Q53TY0|Q6P2F2	Silent	SNP	ENST00000321027.3	37	c.1620G>A	CCDS1961.1																																																																																				0.338	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2		NM_003203		15	35	0	0	0	0.00499	0	15	35		
CTNNA2	1496	broad.mit.edu	37	2	80101255	80101255	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:80101255G>A	ENST00000402739.4	+	5	644	c.639G>A	c.(637-639)ctG>ctA	p.L213L	CTNNA2_ENST00000541047.1_Silent_p.L213L|CTNNA2_ENST00000540488.1_Silent_p.L213L|CTNNA2_ENST00000466387.1_Silent_p.L213L|CTNNA2_ENST00000361291.4_Silent_p.L247L|CTNNA2_ENST00000496558.1_Silent_p.L213L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	213					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGGGGCTCTGAAGAAGAATG	0.517																																						uc010ysh.1		NaN																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(637-639)CTG>CTA		catenin, alpha 2 isoform 1							46.0	51.0	49.0					2																	80101255		2049	4197	6246	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80101255G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.639G>A	2.37:g.80101255G>A						CTNNA2_uc010yse.1_Silent_p.L213L|CTNNA2_uc010ysf.1_Silent_p.L213L|CTNNA2_uc010ysg.1_Silent_p.L213L	p.L213L	NM_004389	NP_004380	P26232	CTNA2_HUMAN			5	644	+			213					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.639G>A																																																																																					0.517	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4		NM_004389		26	23	0	0	0	0.007291	0	26	23		
MFSD9	84804	broad.mit.edu	37	2	103353184	103353184	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:103353184C>T	ENST00000258436.5	-	1	129	c.86G>A	c.(85-87)gGa>gAa	p.G29E	TMEM182_ENST00000409173.1_5'Flank|TMEM182_ENST00000409528.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	29					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGCCTCGGTTCCTGTCTTCTG	0.677																																						uc002tcb.2		NaN																	0				ovary(2)|breast(2)	4						c.(85-87)GGA>GAA		major facilitator superfamily domain containing							33.0	39.0	37.0					2																	103353184		2202	4300	6502	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103353184C>T		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.86G>A	2.37:g.103353184C>T	ENSP00000258436:p.Gly29Glu					TMEM182_uc002tcc.3_5'Flank|TMEM182_uc002tcd.3_5'Flank|MFSD9_uc010fja.2_RNA	p.G29E	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			1	154	-			29					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.86G>A	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575570	0.28092	.	.	ENSG00000135953	ENST00000258436	T	0.64618	-0.11	3.98	0.959	0.19624	Major facilitator superfamily domain, general substrate transporter (1);	1.141700	0.06805	N	0.789307	T	0.47930	0.1472	L	0.27053	0.805	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.36138	-0.9760	10	0.44086	T	0.13	-7.2823	7.1016	0.25340	0.0:0.6795:0.0:0.3205	.	29	Q8NBP5	MFSD9_HUMAN	E	29	ENSP00000258436:G29E	ENSP00000258436:G29E	G	-	2	0	MFSD9	102719616	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.810000	0.27183	0.063000	0.16370	-0.378000	0.06908	GGA		0.677	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2		NM_032718		22	28	0	0	0	0.012319	0	22	28		
TFCP2L1	29842	broad.mit.edu	37	2	122038802	122038802	+	Silent	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:122038802C>A	ENST00000263707.5	-	2	205	c.108G>T	c.(106-108)ctG>ctT	p.L36L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	36	Mediate transcriptional repression.				cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCTCGGGGGACAGCTGGGGTT	0.622																																						uc002tmx.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(106-108)CTG>CTT		LBP-9							83.0	90.0	88.0					2																	122038802		2203	4300	6503	SO:0001819	synonymous_variant	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122038802C>A	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.108G>T	2.37:g.122038802C>A						TFCP2L1_uc010flr.2_Silent_p.L36L	p.L36L	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN			2	201	-	Renal(3;0.01)		36			Mediate transcriptional repression.		Q4ZG43	Silent	SNP	ENST00000263707.5	37	c.108G>T	CCDS2134.1																																																																																				0.622	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1		NM_014553		63	115	1	0	6.20995e-33	0.01441	9.09973e-33	63	115		
SCN1A	6323	broad.mit.edu	37	2	166848518	166848518	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:166848518C>A	ENST00000303395.4	-	26	5266	c.5267G>T	c.(5266-5268)tGt>tTt	p.C1756F	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.C1745F|SCN1A_ENST00000423058.2_Missense_Mutation_p.C1756F|SCN1A_ENST00000409050.1_Missense_Mutation_p.C1728F			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1756			C -> G (in EIEE6; dbSNP:rs121918809). {ECO:0000269|PubMed:19563458, ECO:0000269|PubMed:20452746}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGGTTCCCACAGTCTCCCTT	0.468																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(5233-5235)TGT>TTT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						195.0	191.0	192.0					2																	166848518		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848518C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5267G>T	2.37:g.166848518C>A	ENSP00000303540:p.Cys1756Phe						p.C1745F	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5252	-			1756			IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5234G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791803	0.70452	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	D	0.99498	0.9821	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97981	1.0349	10	0.87932	D	0	.	19.8234	0.96607	0.0:1.0:0.0:0.0	.	1745	P35498-2	.	F	1756;1756;1745;1728	ENSP00000407030:C1756F;ENSP00000303540:C1756F;ENSP00000364554:C1745F;ENSP00000386312:C1728F	ENSP00000303540:C1756F	C	-	2	0	SCN1A	166556764	1.000000	0.71417	0.999000	0.59377	0.685000	0.39939	7.718000	0.84743	2.674000	0.91012	0.650000	0.86243	TGT		0.468	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		60	105	1	0	1.07363e-35	0.01441	1.60502e-35	60	105		
XIRP2	129446	broad.mit.edu	37	2	168105238	168105238	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:168105238C>A	ENST00000409195.1	+	9	7425	c.7336C>A	c.(7336-7338)Ctg>Atg	p.L2446M	XIRP2_ENST00000409273.1_Missense_Mutation_p.L2224M|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2446M|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2271					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAAGTTGAACTGGCAACCTC	0.423																																						uc002udx.2		NaN																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(7336-7338)CTG>ATG		xin actin-binding repeat containing 2 isoform 1							89.0	88.0	88.0					2																	168105238		1843	4105	5948	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105238C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7336C>A	2.37:g.168105238C>A	ENSP00000386840:p.Leu2446Met					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L2271M|XIRP2_uc010fpq.2_Missense_Mutation_p.L2224M|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.L2446M	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7354	+			2271					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7336C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	5.211	0.224491	0.09916	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02787	4.16;4.16;4.16	5.7	-3.5	0.04710	.	0.960589	0.08575	N	0.925532	T	0.03871	0.0109	M	0.63428	1.95	0.09310	N	1	P;D;D	0.53151	0.93;0.958;0.958	B;P;P	0.45610	0.293;0.487;0.487	T	0.21008	-1.0258	10	0.34782	T	0.22	0.8234	2.7324	0.05231	0.109:0.3735:0.2215:0.2959	.	2271;2271;2224	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	M	2446;2446;2224	ENSP00000386840:L2446M;ENSP00000295237:L2446M;ENSP00000387255:L2224M	ENSP00000295237:L2446M	L	+	1	2	XIRP2	167813484	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.970000	0.03810	-0.808000	0.04387	-0.268000	0.10319	CTG		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		41	59	1	0	9.58827e-17	0.01441	1.19249e-16	41	59		
NFE2L2	4780	broad.mit.edu	37	2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:178098945G>C	ENST00000397062.3	-	2	654	c.100C>G	c.(100-102)Cga>Gga	p.R34G	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34G(4)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NaN		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		4	Substitution - Missense(4)		lung(2)|endometrium(2)	central_nervous_system(1)	1						c.(100-102)CGA>GGA		nuclear factor erythroid 2-like 2 isoform 1							75.0	68.0	70.0					2																	178098945		1847	4103	5950	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098945G>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.100C>G	2.37:g.178098945G>C	ENSP00000380252:p.Arg34Gly	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.R18G|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18G|NFE2L2_uc002uli.3_Missense_Mutation_p.R18G|NFE2L2_uc010fra.2_Missense_Mutation_p.R18G|NFE2L2_uc010frb.2_Missense_Mutation_p.R18G	p.R34G	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	655	-			34					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.100C>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190279	0.58017	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.78	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.86740	2.835	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.995;0.998;0.998	T	0.66862	-0.5816	10	0.72032	D	0.01	.	14.8506	0.70295	0.0:0.0:0.6243:0.3757	.	18;18;18;34	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	G	18;34;18;18;18;18;18	ENSP00000380253:R18G;ENSP00000380252:R34G;ENSP00000411575:R18G;ENSP00000391590:R18G;ENSP00000400073:R18G;ENSP00000412191:R18G;ENSP00000410015:R18G	ENSP00000380252:R34G	R	-	1	2	NFE2L2	177807191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.376000	0.73141	0.300000	0.22699	0.563000	0.77884	CGA		0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164		18	7	0	0	0	0.007413	0	18	7		
EEF1B2	1933	broad.mit.edu	37	2	207026135	207026135	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:207026135G>C	ENST00000392222.2	+	3	644	c.269G>C	c.(268-270)aGt>aCt	p.S90T	SNORA41_ENST00000384675.1_RNA|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S90T|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S90T|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	90					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						ACTACAGGAAGTGGAGCTACA	0.438																																						uc002vbf.1		NaN																	0					0						c.(268-270)AGT>ACT		eukaryotic translation elongation factor 1 beta							175.0	163.0	167.0					2																	207026135		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207026135G>C	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.269G>C	2.37:g.207026135G>C	ENSP00000376056:p.Ser90Thr					NDUFS1_uc010ziq.1_5'Flank|NDUFS1_uc002vbe.2_5'Flank|NDUFS1_uc010zir.1_5'Flank|NDUFS1_uc010zis.1_5'Flank|NDUFS1_uc010zit.1_5'Flank|NDUFS1_uc010ziu.1_5'Flank|EEF1B2_uc002vbg.1_Missense_Mutation_p.S90T|EEF1B2_uc002vbh.1_Missense_Mutation_p.S90T|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.2_5'Flank	p.S90T	NM_001037663	NP_001032752	P24534	EF1B_HUMAN			4	427	+			90					A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.269G>C	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055050	0.36277	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.17	4.24	0.50183	.	0.323698	0.34906	N	0.003599	T	0.32466	0.0830	L	0.33485	1.01	0.29096	N	0.881753	B	0.02656	0.0	B	0.06405	0.002	T	0.19516	-1.0303	10	0.39692	T	0.17	-4.4386	12.7473	0.57287	0.0845:0.0:0.9155:0.0	.	90	P24534	EF1B_HUMAN	T	90	ENSP00000236957:S90T;ENSP00000376055:S90T;ENSP00000376056:S90T;ENSP00000407730:S90T	ENSP00000236957:S90T	S	+	2	0	EEF1B2	206734380	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.233000	0.43027	1.084000	0.41184	-0.378000	0.06908	AGT		0.438	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1		NM_001037663		58	80	0	0	0	0.01441	0	58	80		
PCNT	5116	broad.mit.edu	37	21	47769714	47769714	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr21:47769714G>A	ENST00000359568.5	+	8	1431	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	442	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAAAGAGAGCGAGAAAGAAAA	0.433																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(1324-1326)GAG>AAG		pericentrin							75.0	77.0	76.0					21																	47769714		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47769714G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1324G>A	21.37:g.47769714G>A	ENSP00000352572:p.Glu442Lys					PCNT_uc002zjj.2_Missense_Mutation_p.E324K|PCNT_uc010gqk.1_RNA	p.E442K	NM_006031	NP_006022	O95613	PCNT_HUMAN			8	1431	+	Breast(49;0.112)		442			Glu-rich.|Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1324G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.149879	0.37923	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.26810	1.71	3.98	3.98	0.46160	.	0.531595	0.14104	N	0.341186	T	0.41465	0.1160	L	0.43923	1.385	0.19575	N	0.999969	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.18116	-1.0347	10	0.23302	T	0.38	.	14.5767	0.68252	0.0:0.0:1.0:0.0	.	324;442	O95613-2;O95613	.;PCNT_HUMAN	K	442;429	ENSP00000352572:E442K	ENSP00000338675:E429K	E	+	1	0	PCNT	46594142	1.000000	0.71417	0.185000	0.23176	0.011000	0.07611	4.886000	0.63149	2.557000	0.86248	0.551000	0.68910	GAG		0.433	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		21	35	0	0	0	0.007291	0	21	35		
HIRA	7290	broad.mit.edu	37	22	19393309	19393309	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:19393309C>T	ENST00000263208.5	-	5	653	c.397G>A	c.(397-399)Gat>Aat	p.D133N	HIRA_ENST00000541063.1_Splice_Site_p.D89N|HIRA_ENST00000340170.4_Splice_Site_p.D133N|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000546308.1_Splice_Site_p.D89N	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	133					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCCCACTCACCGCCTGAATGA	0.607																																						uc002zpf.1		NaN																	0				ovary(1)	1						c.(397-399)GAT>AAT		HIR histone cell cycle regulation defective							74.0	61.0	66.0					22																	19393309		2203	4300	6503	SO:0001630	splice_region_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19393309C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.397+1G>A	22.37:g.19393309C>T						HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.D133N|HIRA_uc010gro.1_Missense_Mutation_p.D89N|HIRA_uc010grp.2_RNA	p.D133N	NM_003325	NP_003316	P54198	HIRA_HUMAN			5	617	-	Colorectal(54;0.0993)		133			WD 3.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.397G>A	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300008	0.95574	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.99;1.0	T	0.66484	-0.5912	9	.	.	.	-13.6988	18.1731	0.89753	0.0:1.0:0.0:0.0	.	133;133	P54198-2;P54198	.;HIRA_HUMAN	N	133;133;89;89	ENSP00000345350:D133N;ENSP00000263208:D133N;ENSP00000446073:D89N;ENSP00000441870:D89N	.	D	-	1	0	HIRA	17773309	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.131000	0.77243	2.519000	0.84933	0.563000	0.77884	GAT		0.607	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2		NM_003325	Missense_Mutation	22	37	0	0	0	0.01892	0	22	37		
PIWIL3	440822	broad.mit.edu	37	22	25131817	25131817	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:25131817C>T	ENST00000332271.5	-	13	1908	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	PIWIL3_ENST00000527701.1_Missense_Mutation_p.E389K|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.E389K	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	498					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAGGGTAATTCTCTTATTTCT	0.373																																						uc003abd.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1492-1494)GAA>AAA		piwi-like 3							196.0	191.0	193.0					22																	25131817		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25131817C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1492G>A	22.37:g.25131817C>T	ENSP00000330031:p.Glu498Lys					PIWIL3_uc011ajx.1_Missense_Mutation_p.E389K|PIWIL3_uc011ajy.1_Missense_Mutation_p.E389K|PIWIL3_uc010gut.1_Missense_Mutation_p.E498K	p.E498K	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			13	1909	-			498						Missense_Mutation	SNP	ENST00000332271.5	37	c.1492G>A	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	5.160	0.215159	0.09810	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.13901	2.55;2.55;2.55	1.85	-1.61	0.08399	Ribonuclease H-like (1);	0.786233	0.10990	N	0.611725	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13145	0.007;0.001;0.006	B;B;B	0.13407	0.009;0.004;0.009	T	0.44174	-0.9345	10	0.17369	T	0.5	0.2718	7.6809	0.28513	0.0:0.6868:0.0:0.3132	.	389;498;498	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	K	498;389;389	ENSP00000330031:E498K;ENSP00000431843:E389K;ENSP00000435718:E389K	ENSP00000330031:E498K	E	-	1	0	PIWIL3	23461817	0.216000	0.23585	0.000000	0.03702	0.031000	0.12232	1.728000	0.38105	-0.479000	0.06813	0.313000	0.20887	GAA		0.373	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2		NM_001008496		37	87	0	0	0	0.01441	0	37	87		
CCDC157	550631	broad.mit.edu	37	22	30772567	30772567	+	Missense_Mutation	SNP	T	T	C	rs202178544	byFrequency	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:30772567T>C	ENST00000405659.1	+	12	2801	c.2092T>C	c.(2092-2094)Tct>Cct	p.S698P	CCDC157_ENST00000338306.3_Missense_Mutation_p.S698P|RP1-130H16.16_ENST00000332468.4_RNA			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	698										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CACATCCCCATCTCGGCAGCC	0.667													T|||	6	0.00119808	0.0038	0.0014	5008	,	,		15299	0.0		0.0	False		,,,				2504	0.0					uc011aku.1		NaN																	0				central_nervous_system(1)	1						c.(2092-2094)TCT>CCT		coiled-coil domain containing 157							71.0	79.0	76.0					22																	30772567		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30772567T>C	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.2092T>C	22.37:g.30772567T>C	ENSP00000385357:p.Ser698Pro					CCDC157_uc011akv.1_Missense_Mutation_p.S698P|uc003aho.1_5'Flank	p.S698P	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN			12	2752	+			698					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.2092T>C	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	T	7.336	0.619980	0.14193	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.39229	1.09;1.09	3.04	-2.83	0.05769	.	1.188910	0.06203	N	0.683596	T	0.20373	0.0490	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19549	-1.0302	10	0.25106	T	0.35	-1.9381	7.0241	0.24930	0.0:0.3799:0.0:0.6201	.	698	Q569K6	CC157_HUMAN	P	698	ENSP00000385357:S698P;ENSP00000343087:S698P	ENSP00000343087:S698P	S	+	1	0	CCDC157	29102567	0.000000	0.05858	0.008000	0.14137	0.026000	0.11368	-0.341000	0.07811	-0.707000	0.05022	-0.415000	0.06103	TCT		0.667	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1		NM_001017437		7	281	0	0	0	0.010729	0	7	281		
ISX	91464	broad.mit.edu	37	22	35463109	35463109	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:35463109G>A	ENST00000308700.6	+	1	981	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	ISX_ENST00000404699.2_Missense_Mutation_p.C10Y|RP1-272J12.1_ENST00000448318.4_RNA	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	10					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CCTGCTCTCTGCAGGGGTATG	0.602																																						uc003anj.2		NaN																	0				ovary(3)|skin(2)	5						c.(28-30)TGC>TAC		intestine-specific homeobox							40.0	41.0	41.0					22																	35463109		2203	4300	6503	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35463109G>A	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.29G>A	22.37:g.35463109G>A	ENSP00000311492:p.Cys10Tyr					ISX_uc011amg.1_5'UTR	p.C10Y	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			1	980	+			10					Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.29G>A	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.958190	0.00465	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.89270	-2.49;-2.49	3.89	-6.12	0.02124	.	1.359010	0.04927	N	0.456047	T	0.71031	0.3292	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.62215	-0.6901	10	0.11794	T	0.64	.	4.8538	0.13549	0.5464:0.0:0.1876:0.266	.	10	Q2M1V0	ISX_HUMAN	Y	10	ENSP00000311492:C10Y;ENSP00000386037:C10Y	ENSP00000311492:C10Y	C	+	2	0	ISX	33793109	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.301000	0.02749	-1.249000	0.02500	-1.628000	0.00784	TGC		0.602	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1		NM_001008494		22	24	0	0	0	0.00632	0	22	24		
PDXP	57026	broad.mit.edu	37	22	38061710	38061710	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:38061710G>T	ENST00000215904.6	+	2	779	c.723G>T	c.(721-723)gaG>gaT	p.E241D	PDXP_ENST00000403251.1_Missense_Mutation_p.E24D|SH3BP1_ENST00000599616.1_Missense_Mutation_p.E550D	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	241					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)			kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					ACCGCCTGGAGACCGACATCC	0.647																																						uc003atj.1		NaN																	0				central_nervous_system(1)	1						c.(1648-1650)GAG>GAT		SubName: Full=cDNA FLJ44925 fis, clone BRAMY3014613, highly similar to Homo sapiens SH3-domain binding protein 1 (SH3BP1);							136.0	121.0	126.0					22																	38061710		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38061710G>T	BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.723G>T	22.37:g.38061710G>T	ENSP00000215904:p.Glu241Asp					PDXP_uc003atm.1_Missense_Mutation_p.E241D	p.E550D			Q9Y3L3	3BP1_HUMAN			17	2537	+	Melanoma(58;0.0574)		Error:Variant_position_missing_in_Q9Y3L3_after_alignment					Q9UGY2	Missense_Mutation	SNP	ENST00000215904.6	37	c.1650G>T	CCDS13953.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271415	0.23221	.	.	ENSG00000241360	ENST00000215904;ENST00000403251	T;T	0.30448	1.53;1.53	5.78	3.69	0.42338	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	.	.	.	.	T	0.08179	0.0204	N	0.00605	-1.335	0.40499	D	0.980626	B;B	0.30021	0.265;0.022	B;B	0.31191	0.125;0.093	T	0.28586	-1.0039	9	0.02654	T	1	-15.7124	10.3257	0.43792	0.0672:0.2535:0.6793:0.0	.	241;550	Q96GD0;Q6ZT62	PLPP_HUMAN;.	D	241;24	ENSP00000215904:E241D;ENSP00000385336:E24D	ENSP00000215904:E241D	E	+	3	2	PDXP	36391656	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.851000	0.27751	0.799000	0.34018	-0.215000	0.12644	GAG		0.647	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104105.2		NM_020315		68	150	1	0	2.16659e-41	0.01441	3.34016e-41	68	150		
TGFBR2	7048	broad.mit.edu	37	3	30715617	30715617	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:30715617G>T	ENST00000295754.5	+	5	1657	c.1275G>T	c.(1273-1275)atG>atT	p.M425I	TGFBR2_ENST00000359013.4_Missense_Mutation_p.M450I	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	425	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAAGATACATGGCTCCAGAAG	0.453																																						uc003ceo.2		NaN																	0				pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(1273-1275)ATG>ATT		transforming growth factor, beta receptor II							122.0	113.0	116.0					3																	30715617		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30715617G>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1275G>T	3.37:g.30715617G>T	ENSP00000295754:p.Met425Ile					TGFBR2_uc003cen.2_Missense_Mutation_p.M450I	p.M425I	NM_003242	NP_003233	P37173	TGFR2_HUMAN			5	1657	+			425			Protein kinase.|Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1275G>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	34	5.382329	0.95967	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.94184	-3.37;-3.37	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96558	0.9413	10	0.87932	D	0	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	425;450	P37173;D2JYI1	TGFR2_HUMAN;.	I	425;450;255	ENSP00000295754:M425I;ENSP00000351905:M450I	ENSP00000295754:M425I	M	+	3	0	TGFBR2	30690621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	ATG		0.453	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2				26	6	1	0	6.53348e-20	0.017118	8.48206e-20	26	6		
C3orf67	200844	broad.mit.edu	37	3	58849547	58849547	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:58849547C>T	ENST00000482387.1	-	8	1051	c.955G>A	c.(955-957)Ggt>Agt	p.G319S	RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.G226S|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.G319S			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	319										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GAGTCATCACCCAGAAGTAGA	0.463																																						uc003dkt.1		NaN																	0					0						c.(955-957)GGT>AGT		hypothetical protein LOC200844							71.0	72.0	72.0					3																	58849547		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58849547C>T	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.955G>A	3.37:g.58849547C>T	ENSP00000417122:p.Gly319Ser					C3orf67_uc003dks.1_Missense_Mutation_p.G134S|uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.G134S|C3orf67_uc003dkw.2_Missense_Mutation_p.G214S	p.G319S	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	12	1364	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	319					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.955G>A		.	.	.	.	.	.	.	.	.	.	C	5.229	0.227659	0.09916	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000394474;ENST00000472469	T;T;T	0.15603	2.42;2.42;2.41	5.16	4.27	0.50696	.	0.542498	0.18475	N	0.140098	T	0.07413	0.0187	N	0.03608	-0.345	0.09310	N	0.999998	B;B;B	0.15930	0.004;0.004;0.015	B;B;B	0.16289	0.009;0.015;0.014	T	0.30851	-0.9964	10	0.29301	T	0.29	-4.0467	8.5196	0.33268	0.3038:0.5488:0.1473:0.0	.	226;319;319	C9J3M8;Q6ZVT6-2;Q6ZVT6	.;.;CC067_HUMAN	S	319;319;24;226	ENSP00000295966:G319S;ENSP00000417122:G319S;ENSP00000417271:G226S	ENSP00000295966:G319S	G	-	1	0	C3orf67	58824587	0.002000	0.14202	0.271000	0.24616	0.321000	0.28281	0.962000	0.29280	1.258000	0.44101	0.650000	0.86243	GGT		0.463	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1		NM_198463		39	3	0	0	0	0.007835	0	39	3		
TOPBP1	11073	broad.mit.edu	37	3	133341937	133341937	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:133341937C>G	ENST00000260810.5	-	19	3307	c.3176G>C	c.(3175-3177)gGa>gCa	p.G1059A		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1059					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						tattttaCCTCCTTTAGAGTC	0.338								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2		NaN																	0				ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(3175-3177)GGA>GCA	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							24.0	22.0	23.0					3																	133341937		1782	4044	5826	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133341937C>G	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3176G>C	3.37:g.133341937C>G	ENSP00000260810:p.Gly1059Ala					TOPBP1_uc003ept.1_Missense_Mutation_p.G63A	p.G1059A	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			19	3308	-			1059					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.3176G>C	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869694	0.51588	.	.	ENSG00000163781	ENST00000260810	T	0.11495	2.77	5.82	4.93	0.64822	.	0.330793	0.37669	N	0.001997	T	0.17323	0.0416	M	0.63428	1.95	0.40573	D	0.981322	P;P	0.36144	0.539;0.539	B;B	0.41571	0.36;0.193	T	0.02860	-1.1101	10	0.28530	T	0.3	.	15.0344	0.71734	0.1436:0.8564:0.0:0.0	.	972;1059	A0AV47;Q92547	.;TOPB1_HUMAN	A	1059	ENSP00000260810:G1059A	ENSP00000260810:G1059A	G	-	2	0	TOPBP1	134824627	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	4.389000	0.59639	1.410000	0.46936	0.655000	0.94253	GGA		0.338	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1		NM_007027		8	0	0	0	0	0.008291	0	8	0		
HRG	3273	broad.mit.edu	37	3	186389456	186389456	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:186389456G>T	ENST00000232003.4	+	4	516	c.436G>T	c.(436-438)Gat>Tat	p.D146Y		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	146	Cystatin 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GGTCCTCATAGATTTCTTTGA	0.453																																						uc003fqq.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(436-438)GAT>TAT		histidine-rich glycoprotein precursor							91.0	91.0	91.0					3																	186389456		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186389456G>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.436G>T	3.37:g.186389456G>T	ENSP00000232003:p.Asp146Tyr						p.D146Y	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	4	459	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		146			Cystatin 2.		B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.436G>T	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274310	0.23307	.	.	ENSG00000113905	ENST00000232003	T	0.20463	2.07	5.22	3.38	0.38709	Proteinase inhibitor I25, cystatin (1);Thioredoxin-like fold (1);	0.000000	0.49305	D	0.000157	T	0.37433	0.1003	M	0.62723	1.935	0.22710	N	0.99883	D	0.76494	0.999	D	0.66716	0.946	T	0.06127	-1.0844	10	0.54805	T	0.06	-21.5757	8.9559	0.35818	0.1845:0.0:0.8155:0.0	.	146	P04196	HRG_HUMAN	Y	146	ENSP00000232003:D146Y	ENSP00000232003:D146Y	D	+	1	0	HRG	187872150	0.967000	0.33354	0.721000	0.30653	0.071000	0.16799	1.669000	0.37492	1.333000	0.45449	0.561000	0.74099	GAT		0.453	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1		NM_000412		28	26	1	0	1.06801e-11	0.009535	1.23489e-11	28	26		
PCYT1A	5130	broad.mit.edu	37	3	195975136	195975136	+	Silent	SNP	G	G	A	rs377685482		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:195975136G>A	ENST00000292823.2	-	5	448	c.276C>T	c.(274-276)caC>caT	p.H92H	PCYT1A_ENST00000431016.1_Silent_p.H92H|RP11-447L10.1_ENST00000431391.1_3'UTR|AC069257.8_ENST00000425275.1_RNA|PCYT1A_ENST00000419333.1_Silent_p.H92H|AC069257.8_ENST00000608995.1_RNA|PCYT1A_ENST00000491544.1_5'UTR	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	92					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	GAGCTCGGGCGTGACCAGAGT	0.413																																						uc003fwg.2		NaN																	0					0						c.(274-276)CAC>CAT		choline phosphate cytidylyltransferase 1 alpha	Choline(DB00122)			0,4406		0,0,2203	117.0	114.0	115.0		276	-0.8	1.0	3		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PCYT1A	NM_005017.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		92/368	195975136	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195975136G>A	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.276C>T	3.37:g.195975136G>A						PCYT1A_uc003fwh.2_Silent_p.H92H	p.H92H	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	5	449	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		92			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Silent	SNP	ENST00000292823.2	37	c.276C>T	CCDS3315.1																																																																																				0.413	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1		NM_005017		4	107	0	0	0	0.001168	0	4	107		
UGT2B4	7363	broad.mit.edu	37	4	70355258	70355258	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:70355258C>T	ENST00000305107.6	-	3	947	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E301K|UGT2B4_ENST00000381096.3_Missense_Mutation_p.E165K	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	301					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ACACCATTTTCTCCAGAGCTC	0.403																																						uc003hek.3		NaN																	0				skin(2)	2						c.(901-903)GAA>AAA		UDP glucuronosyltransferase 2B4 precursor							131.0	130.0	130.0					4																	70355258		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70355258C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.901G>A	4.37:g.70355258C>T	ENSP00000305221:p.Glu301Lys					UGT2B4_uc011cap.1_Missense_Mutation_p.E165K|UGT2B4_uc003hel.3_Missense_Mutation_p.E301K	p.E301K	NM_021139	NP_066962	P06133	UD2B4_HUMAN			3	948	-			301					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.901G>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	8.611	0.889214	0.17540	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.64991	-0.13;-0.13;-0.13	2.14	1.28	0.21552	.	0.220091	0.37053	U	0.002273	T	0.54127	0.1839	L	0.35644	1.08	0.22389	N	0.99914	B;B;P	0.36010	0.001;0.016;0.532	B;B;P	0.44623	0.032;0.067;0.455	T	0.48906	-0.8993	10	0.54805	T	0.06	.	6.9141	0.24349	0.0:0.8446:0.0:0.1554	.	165;301;301	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	K	301;301;165	ENSP00000421290:E301K;ENSP00000305221:E301K;ENSP00000370486:E165K	ENSP00000305221:E301K	E	-	1	0	UGT2B4	70389847	0.809000	0.29036	0.158000	0.22627	0.103000	0.19146	1.546000	0.36179	0.479000	0.27511	0.306000	0.20318	GAA		0.403	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1		NM_021139		69	16	0	0	0	0.01441	0	69	16		
MAPK10	5602	broad.mit.edu	37	4	87022213	87022213	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:87022213T>G	ENST00000359221.3	-	8	1248	c.722A>C	c.(721-723)aAg>aCg	p.K241T	MAPK10_ENST00000395169.3_Missense_Mutation_p.K203T|MAPK10_ENST00000395160.3_Missense_Mutation_p.K96T|MAPK10_ENST00000395161.2_Missense_Mutation_p.K241T|MAPK10_ENST00000395166.1_Missense_Mutation_p.K203T|MAPK10_ENST00000449047.2_Missense_Mutation_p.K96T|MAPK10_ENST00000395157.3_Missense_Mutation_p.K96T|MAPK10_ENST00000513839.1_5'Flank|MAPK10_ENST00000361569.2_Missense_Mutation_p.K241T			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		ACCGTTCTCCTTGTAGCCCAT	0.498																																						uc003hpq.2		NaN																	0				stomach(1)|breast(1)|central_nervous_system(1)	3						c.(721-723)AAG>ACG		mitogen-activated protein kinase 10 isoform 2							118.0	103.0	108.0					4																	87022213		2203	4300	6503	SO:0001583	missense	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:87022213T>G	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.722A>C	4.37:g.87022213T>G	ENSP00000352157:p.Lys241Thr					MAPK10_uc010ikg.2_Missense_Mutation_p.K203T|MAPK10_uc003hpr.2_Missense_Mutation_p.K203T|MAPK10_uc003hps.2_Missense_Mutation_p.K241T|MAPK10_uc003hpt.2_Missense_Mutation_p.K241T|MAPK10_uc003hpu.2_Missense_Mutation_p.K241T|MAPK10_uc003hpv.2_Missense_Mutation_p.K96T|MAPK10_uc003hpn.2_5'Flank|MAPK10_uc003hpo.2_Missense_Mutation_p.K96T|MAPK10_uc011ccw.1_Missense_Mutation_p.K127T|MAPK10_uc003hpp.2_Missense_Mutation_p.K96T	p.K241T	NM_138982	NP_620448	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	7	789	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	241			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	c.722A>C	CCDS34026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.50|12.50	1.957582|1.957582	0.34565|0.34565	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161|ENST00000515400	T;T;T;T;T;T;T;T|.	0.81078|.	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.14787|0.14787	0.0357|0.0357	N|N	0.00165|0.00165	-1.945|-1.945	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.15930|.	0.001;0.01;0.0;0.015;0.008|.	B;B;B;B;B|.	0.24974|.	0.013;0.033;0.039;0.057;0.039|.	T|T	0.41142|0.41142	-0.9525|-0.9525	10|5	0.25751|.	T|.	0.34|.	-20.0233|-20.0233	16.5724|16.5724	0.84622|0.84622	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	127;96;203;241;241|.	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779|.	.;.;.;.;MK10_HUMAN|.	T|H	203;241;96;241;203;96;96;241|153	ENSP00000378598:K203T;ENSP00000352157:K241T;ENSP00000378586:K96T;ENSP00000355297:K241T;ENSP00000378595:K203T;ENSP00000378589:K96T;ENSP00000414469:K96T;ENSP00000378590:K241T|.	ENSP00000352157:K241T|.	K|Q	-|-	2|3	0|2	MAPK10|MAPK10	87241237|87241237	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.186000|6.186000	0.72026|0.72026	2.313000|2.313000	0.78055|0.78055	0.455000|0.455000	0.32223|0.32223	AAG|CAA		0.498	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2				39	11	0	0	0	0.01441	0	39	11		
EGF	1950	broad.mit.edu	37	4	110884383	110884383	+	Missense_Mutation	SNP	C	C	A	rs150311153	byFrequency	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:110884383C>A	ENST00000265171.5	+	9	1812	c.1367C>A	c.(1366-1368)cCa>cAa	p.P456Q	EGF_ENST00000503392.1_Missense_Mutation_p.P456Q|EGF_ENST00000509793.1_Missense_Mutation_p.P414Q	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	456	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CCTCTTAGCCCAGTATCCTGG	0.448													C|||	7	0.00139776	0.0053	0.0	5008	,	,		16317	0.0		0.0	False		,,,				2504	0.0					uc003hzy.3		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1366-1368)CCA>CAA		epidermal growth factor precursor	Sulindac(DB00605)	C	GLN/PRO,GLN/PRO,GLN/PRO	19,4387	26.2+/-53.5	0,19,2184	237.0	221.0	226.0		1367,1241,1367	3.8	0.2	4	dbSNP_134	226	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	EGF	NM_001178130.1,NM_001178131.1,NM_001963.4	76,76,76	0,20,6483	AA,AC,CC		0.0116,0.4312,0.1538	probably-damaging,probably-damaging,probably-damaging	456/1167,414/1166,456/1208	110884383	20,12986	2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110884383C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1367C>A	4.37:g.110884383C>A	ENSP00000265171:p.Pro456Gln					EGF_uc011cfu.1_Missense_Mutation_p.P414Q|EGF_uc011cfv.1_Missense_Mutation_p.P456Q	p.P456Q	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	9	1819	+		Hepatocellular(203;0.0893)	456			EGF-like 4.|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1367C>A	CCDS3689.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.91	3.504335	0.64410	0.004312	1.16E-4	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.97256	-4.31;-4.31;-4.31	5.5	3.76	0.43208	Epidermal growth factor-like (1);	0.151929	0.64402	D	0.000011	D	0.97611	0.9217	M	0.62209	1.925	0.53005	D	0.999966	D;P;D	0.89917	0.999;0.742;1.0	D;P;D	0.77557	0.976;0.553;0.99	D	0.96593	0.9439	10	0.42905	T	0.14	.	12.1772	0.54192	0.0:0.86:0.0:0.14	.	456;414;456	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	Q	414;456;456	ENSP00000424316:P414Q;ENSP00000265171:P456Q;ENSP00000421384:P456Q	ENSP00000265171:P456Q	P	+	2	0	EGF	111103832	0.979000	0.34478	0.175000	0.22980	0.895000	0.52256	2.663000	0.46774	0.681000	0.31386	0.655000	0.94253	CCA		0.448	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1				83	19	1	0	8.84886e-50	0.01441	1.39323e-49	83	19		
DCLK2	166614	broad.mit.edu	37	4	151023702	151023702	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:151023702G>T	ENST00000296550.7	+	2	1248	c.494G>T	c.(493-495)tGg>tTg	p.W165L	DCLK2_ENST00000302176.8_Missense_Mutation_p.W165L|DCLK2_ENST00000506325.1_Missense_Mutation_p.W165L	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	165					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AATCCAAACTGGTCTGTGAAC	0.393																																					GBM(195;186 2215 13375 16801 37459)	uc003ilm.3		NaN																	0				ovary(3)	3						c.(493-495)TGG>TTG		doublecortin-like kinase 2 isoform a							61.0	64.0	63.0					4																	151023702		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151023702G>T	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.494G>T	4.37:g.151023702G>T	ENSP00000296550:p.Trp165Leu					DCLK2_uc003iln.3_Missense_Mutation_p.W165L|DCLK2_uc003ilo.3_Missense_Mutation_p.W165L|DCLK2_uc003ilp.3_RNA	p.W165L	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN			2	594	+	all_hematologic(180;0.151)		165					C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.494G>T	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962786	0.92791	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	D;D;D	0.93076	-3.16;-3.16;-3.16	5.36	5.36	0.76844	Doublecortin domain (2);	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.986	D;D;D	0.91635	0.987;0.999;0.926	D	0.98005	1.0362	10	0.72032	D	0.01	.	19.482	0.95014	0.0:0.0:1.0:0.0	.	165;165;165	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	L	165	ENSP00000296550:W165L;ENSP00000427235:W165L;ENSP00000303887:W165L	ENSP00000296550:W165L	W	+	2	0	DCLK2	151243152	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.771000	0.98977	2.696000	0.92011	0.557000	0.71058	TGG		0.393	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1		NM_001040260		29	4	1	0	2.19489e-29	0.00623	3.15382e-29	29	4		
SLC6A19	340024	broad.mit.edu	37	5	1219713	1219713	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr5:1219713C>T	ENST00000304460.10	+	10	1528	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	491					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TATGCCGGCTCCATTCCCCTG	0.592																																						uc003jbw.3		NaN																	0					0						c.(1471-1473)TCC>TTC		solute carrier family 6, member 19							158.0	132.0	141.0					5																	1219713		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1219713C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1472C>T	5.37:g.1219713C>T	ENSP00000305302:p.Ser491Phe						p.S491F	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1528	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		491			Helical; Name=10; (Potential).		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1472C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584911	0.65992	.	.	ENSG00000174358	ENST00000304460	T	0.75260	-0.92	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.89891	0.6846	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92844	0.6291	10	0.87932	D	0	.	17.9024	0.88909	0.0:1.0:0.0:0.0	.	491	Q695T7	S6A19_HUMAN	F	491	ENSP00000305302:S491F	ENSP00000305302:S491F	S	+	2	0	SLC6A19	1272713	1.000000	0.71417	0.995000	0.50966	0.068000	0.16541	7.605000	0.82844	2.221000	0.72209	0.478000	0.44815	TCC		0.592	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1		XM_291120		30	80	0	0	0	0.010818	0	30	80		
ADAMTS12	81792	broad.mit.edu	37	5	33614431	33614431	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr5:33614431C>A	ENST00000504830.1	-	16	2774	c.2439G>T	c.(2437-2439)caG>caT	p.Q813H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q728H|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	813	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCCATCTTTCTGGATTGTGT	0.478										HNSCC(64;0.19)																												uc003jia.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2437-2439)CAG>CAT		ADAM metallopeptidase with thrombospondin type 1							208.0	152.0	171.0					5																	33614431		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33614431C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2439G>T	5.37:g.33614431C>A	ENSP00000422554:p.Gln813His	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q728H	p.Q813H	NM_030955	NP_112217	P58397	ATS12_HUMAN			16	2602	-			813			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2439G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306276	0.23736	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.50813	0.73;0.73	5.73	0.676	0.17958	ADAM-TS Spacer 1 (1);	0.295217	0.37437	N	0.002093	T	0.17152	0.0412	N	0.02802	-0.49	0.80722	D	1	P;B	0.41569	0.755;0.008	B;B	0.38056	0.264;0.007	T	0.04961	-1.0915	10	0.46703	T	0.11	.	2.575	0.04804	0.1172:0.3261:0.1148:0.4419	.	728;813	P58397-3;P58397	.;ATS12_HUMAN	H	813;728	ENSP00000422554:Q813H;ENSP00000344847:Q728H	ENSP00000344847:Q728H	Q	-	3	2	ADAMTS12	33650188	0.932000	0.31603	0.913000	0.36048	0.982000	0.71751	0.412000	0.21131	0.045000	0.15804	0.561000	0.74099	CAG		0.478	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		21	72	1	0	3.1745e-13	0.008361	3.7586e-13	21	72		
CMYA5	202333	broad.mit.edu	37	5	79027444	79027444	+	Silent	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr5:79027444G>T	ENST00000446378.2	+	2	2887	c.2856G>T	c.(2854-2856)gtG>gtT	p.V952V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	952					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTGCATTTGTGTCAGAATTCT	0.393																																						uc003kgc.2		NaN																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(2854-2856)GTG>GTT		cardiomyopathy associated 5							106.0	99.0	101.0					5																	79027444		1869	4120	5989	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79027444G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2856G>T	5.37:g.79027444G>T							p.V952V	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2928	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	952					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.2856G>T	CCDS47238.1																																																																																				0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1		NM_153610		20	2	1	0	1.64293e-13	0.01892	1.96092e-13	20	2		
EPB41L4A	64097	broad.mit.edu	37	5	111576460	111576460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr5:111576460G>T	ENST00000261486.5	-	10	1119	c.843C>A	c.(841-843)tgC>tgA	p.C281*	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	281	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGAGGTGCTTGCAAGCAGTTT	0.343																																						uc003kpv.1		NaN																	0				ovary(1)	1						c.(841-843)TGC>TGA		erythrocyte protein band 4.1-like 4							73.0	69.0	70.0					5																	111576460		1813	4091	5904	SO:0001587	stop_gained	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111576460G>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.843C>A	5.37:g.111576460G>T	ENSP00000261486:p.Cys281*						p.C281*	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	10	1117	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	281			FERM.		A4FUI6	Nonsense_Mutation	SNP	ENST00000261486.5	37	c.843C>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	G	39	7.438376	0.98286	.	.	ENSG00000129595	ENST00000261486	.	.	.	5.76	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7033	0.62622	0.0753:0.0:0.9247:0.0	.	.	.	.	X	281	.	ENSP00000261486:C281X	C	-	3	2	EPB41L4A	111604359	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.399000	0.44495	1.446000	0.47643	-0.136000	0.14681	TGC		0.343	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1				24	6	1	0	1.48458e-05	0.017118	1.61557e-05	24	6		
TNXB	7148	broad.mit.edu	37	6	32029938	32029938	+	Silent	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr6:32029938C>A	ENST00000375244.3	-	20	7365	c.7164G>T	c.(7162-7164)gtG>gtT	p.V2388V	TNXB_ENST00000375247.2_Silent_p.V2388V			P22105	TENX_HUMAN	tenascin XB	2450	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTCACCTGTCACCCCGATGG	0.627																																						uc003nzl.2		NaN																	0					0						c.(7162-7164)GTG>GTT		tenascin XB isoform 1 precursor							24.0	27.0	26.0					6																	32029938		1277	2530	3807	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029938C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7164G>T	6.37:g.32029938C>A							p.V2388V	NM_019105	NP_061978	P22105	TENX_HUMAN			20	7366	-			2450					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.7164G>T																																																																																					0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		14	16	1	0	3.45872e-05	0.004007	3.73642e-05	14	16		
CDKN1A	1026	broad.mit.edu	37	6	36652020	36652020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr6:36652020C>T	ENST00000405375.1	+	2	377	c.142C>T	c.(142-144)Cga>Tga	p.R48*	CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.R82*|CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.R48*|CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.R48*|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	48					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GGCCCGTGAGCGATGGAACTT	0.662																																						uc003omm.3		NaN																	0				ovary(1)|breast(1)	2						c.(142-144)CGA>TGA		cyclin-dependent kinase inhibitor 1A							55.0	49.0	51.0					6																	36652020		2203	4300	6503	SO:0001587	stop_gained	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652020C>T	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.142C>T	6.37:g.36652020C>T	ENSP00000384849:p.Arg48*					CDKN1A_uc011dtq.1_Nonsense_Mutation_p.R82*|CDKN1A_uc003oml.2_Nonsense_Mutation_p.R48*|CDKN1A_uc003omn.2_Nonsense_Mutation_p.R48*	p.R48*	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	264	+			48					Q14010|Q6FI05|Q9BUT4	Nonsense_Mutation	SNP	ENST00000405375.1	37	c.142C>T	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177270	0.94846	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	.	.	.	5.06	5.06	0.68205	.	0.000000	0.45126	D	0.000397	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-17.1693	13.8081	0.63246	0.0:1.0:0.0:0.0	.	.	.	.	X	82;48;48;48	.	ENSP00000244741:R48X	R	+	1	2	CDKN1A	36759998	0.824000	0.29247	0.786000	0.31890	0.861000	0.49209	1.596000	0.36718	2.642000	0.89623	0.561000	0.74099	CGA		0.662	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		29	58	0	0	0	0.012213	0	29	58		
AMPH	273	broad.mit.edu	37	7	38500927	38500927	+	Missense_Mutation	SNP	C	C	T	rs202128772		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:38500927C>T	ENST00000356264.2	-	11	1188	c.973G>A	c.(973-975)Gag>Aag	p.E325K	AMPH_ENST00000325590.5_Missense_Mutation_p.E325K|AMPH_ENST00000428293.2_Missense_Mutation_p.E325K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	325					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						AAGTTGTCCTCAAAGAAACTG	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19060	0.0		0.0	False		,,,				2504	0.0					uc003tgu.2		NaN																	0				ovary(3)|liver(1)|skin(1)	5						c.(973-975)GAG>AAG		amphiphysin isoform 1		C	LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	193.0	189.0	190.0		973,973	5.8	1.0	7		190	1,8599		0,1,4299	no	missense,missense	AMPH	NM_001635.3,NM_139316.2	56,56	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging	325/696,325/654	38500927	3,13003	2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38500927C>T		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.973G>A	7.37:g.38500927C>T	ENSP00000348602:p.Glu325Lys					AMPH_uc003tgv.2_Missense_Mutation_p.E325K|AMPH_uc003tgt.2_Missense_Mutation_p.E78K	p.E325K	NM_001635	NP_001626	P49418	AMPH_HUMAN			11	1042	-			325					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.973G>A	CCDS5456.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	32	5.168922	0.94768	4.54E-4	1.16E-4	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.41400	1.0;1.0;1.0	5.77	5.77	0.91146	.	0.151610	0.50627	D	0.000118	T	0.57036	0.2026	L	0.53249	1.67	0.58432	D	0.999992	P;P;D	0.76494	0.804;0.917;0.999	P;B;D	0.64144	0.488;0.424;0.922	T	0.43972	-0.9358	10	0.10902	T	0.67	-28.2158	19.9922	0.97370	0.0:1.0:0.0:0.0	.	325;325;81	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	K	325;325;325;95;328	ENSP00000317441:E325K;ENSP00000348602:E325K;ENSP00000390734:E325K	ENSP00000317441:E325K	E	-	1	0	AMPH	38467452	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.283000	0.72646	2.740000	0.93945	0.557000	0.71058	GAG		0.488	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2		NM_001635		54	79	0	0	0	0.01441	0	54	79		
Unknown	0	broad.mit.edu	37	7	63680313	63680313	+	IGR	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:63680313G>A								GUSBP6 (69214 upstream) : ZNF679 (8538 downstream)																							ACTGGAGAGAGACCCTACAAA	0.448																																						uc011kdn.1		NaN																	0					0						c.(883-885)AGA>AAA		zinc finger protein 735							13.0	14.0	14.0					7																	63680313		692	1590	2282	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63680313G>A																													7.37:g.63680313G>A							p.R295K	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			4	884	+			295						Missense_Mutation	SNP		37	c.884G>A																																																																																				0	0.448										3	77	0	0	0	0.004672	0	3	77		
OR2A12	346525	broad.mit.edu	37	7	143793013	143793013	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:143793013G>C	ENST00000408949.2	+	1	873	c.813G>C	c.(811-813)aaG>aaC	p.K271N		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AACGGAGGAAGATCCTTTCCC	0.522																																						uc011kty.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(811-813)AAG>AAC		olfactory receptor, family 2, subfamily A,							201.0	194.0	196.0					7																	143793013		1913	4139	6052	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793013G>C		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.813G>C	7.37:g.143793013G>C	ENSP00000386174:p.Lys271Asn						p.K271N	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	813	+	Melanoma(164;0.0783)		271			Extracellular (Potential).		Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.813G>C	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748421	0.30955	.	.	ENSG00000221858	ENST00000408949	T	0.00207	8.55	4.33	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00552	0.0018	M	0.86953	2.85	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.42916	-0.9423	9	0.87932	D	0	-20.6362	7.5716	0.27911	0.329:0.0:0.671:0.0	.	271	Q8NGT7	O2A12_HUMAN	N	271	ENSP00000386174:K271N	ENSP00000386174:K271N	K	+	3	2	OR2A12	143423946	0.000000	0.05858	0.039000	0.18376	0.571000	0.35966	-0.676000	0.05221	0.471000	0.27319	0.505000	0.49811	AAG		0.522	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1				6	262	0	0	0	0.001984	0	6	262		
EZH2	2146	broad.mit.edu	37	7	148511213	148511213	+	Silent	SNP	C	C	A	rs144723981		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:148511213C>A	ENST00000460911.1	-	15	1762	c.1674G>T	c.(1672-1674)ccG>ccT	p.P558P	EZH2_ENST00000320356.2_Silent_p.P563P|EZH2_ENST00000541220.1_Silent_p.P507P|EZH2_ENST00000350995.2_Silent_p.P519P|EZH2_ENST00000478654.1_Silent_p.P507P|EZH2_ENST00000476773.1_Silent_p.P507P|EZH2_ENST00000483967.1_Silent_p.P549P			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	558	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Cys-rich.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.P519P(2)|p.P563P(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGCGGCATCCCGGAAAGCGGT	0.547			Mis		DLBCL																																	uc003wfd.1		NaN		Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		4	Substitution - coding silent(4)		lung(4)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(1672-1674)CCG>CCT		enhancer of zeste 2 isoform a							165.0	155.0	158.0					7																	148511213		2203	4300	6503	SO:0001819	synonymous_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148511213C>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1674G>T	7.37:g.148511213C>A						EZH2_uc011kug.1_Silent_p.P507P|EZH2_uc003wfb.1_Silent_p.P563P|EZH2_uc003wfc.1_Silent_p.P519P|EZH2_uc011kuh.1_Silent_p.P549P	p.P558P	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		15	1840	-	Melanoma(164;0.15)		558			Cys-rich.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	ENST00000460911.1	37	c.1674G>T	CCDS56516.1																																																																																				0.547	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1		NM_004456		65	103	1	0	2.43516e-34	0.01441	3.60404e-34	65	103		
MYOM2	9172	broad.mit.edu	37	8	2040194	2040194	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:2040194C>T	ENST00000262113.4	+	16	1990	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	MYOM2_ENST00000523438.1_Missense_Mutation_p.R42W	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	617	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGCTCCGGGTCGGGTTCTTGC	0.547																																						uc003wpx.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1849-1851)CGG>TGG		myomesin 2							194.0	194.0	194.0					8																	2040194		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2040194C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1849C>T	8.37:g.2040194C>T	ENSP00000262113:p.Arg617Trp					MYOM2_uc011kwi.1_Missense_Mutation_p.R42W	p.R617W	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	16	1987	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	617			Fibronectin type-III 3.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1849C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326075	0.60743	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.58060	0.36;0.36	5.72	5.72	0.89469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.119371	0.64402	D	0.000017	T	0.73009	0.3532	M	0.79011	2.435	0.49213	D	0.999765	D	0.76494	0.999	D	0.65874	0.939	T	0.70215	-0.4933	10	0.34782	T	0.22	.	19.8835	0.96906	0.0:1.0:0.0:0.0	.	617	P54296	MYOM2_HUMAN	W	617;42	ENSP00000262113:R617W;ENSP00000428396:R42W	ENSP00000262113:R617W	R	+	1	2	MYOM2	2027601	1.000000	0.71417	0.924000	0.36721	0.015000	0.08874	4.525000	0.60559	2.705000	0.92388	0.555000	0.69702	CGG		0.547	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1		NM_003970		98	131	0	0	0	0.01441	0	98	131		
RP1	6101	broad.mit.edu	37	8	55542115	55542115	+	Missense_Mutation	SNP	G	G	T	rs139088785	byFrequency	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:55542115G>T	ENST00000220676.1	+	4	5821	c.5673G>T	c.(5671-5673)ttG>ttT	p.L1891F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1891					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCAACCATTGCCTGGCAGTA	0.388																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NaN																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(5671-5673)TTG>TTT		retinitis pigmentosa RP1 protein		G	PHE/LEU	0,4406		0,0,2203	112.0	106.0	108.0		5673	2.2	1.0	8	dbSNP_134	108	5,8595	4.3+/-15.6	0,5,4295	yes	missense	RP1	NM_006269.1	22	0,5,6498	TT,TG,GG		0.0581,0.0,0.0384	probably-damaging	1891/2157	55542115	5,13001	2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542115G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5673G>T	8.37:g.55542115G>T	ENSP00000220676:p.Leu1891Phe					RP1_uc011ldy.1_Intron	p.L1891F	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5821	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1891						Missense_Mutation	SNP	ENST00000220676.1	37	c.5673G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474506	0.26423	0.0	5.81E-4	ENSG00000104237	ENST00000220676	T	0.47177	0.85	5.67	2.16	0.27623	.	0.187523	0.26203	N	0.025721	T	0.50446	0.1616	M	0.63428	1.95	0.26671	N	0.971734	D	0.61080	0.989	P	0.55087	0.768	T	0.44787	-0.9305	10	0.66056	D	0.02	.	3.1015	0.06328	0.4649:0.0:0.2134:0.3216	.	1891	P56715	RP1_HUMAN	F	1891	ENSP00000220676:L1891F	ENSP00000220676:L1891F	L	+	3	2	RP1	55704668	0.001000	0.12720	0.958000	0.39756	0.212000	0.24457	0.101000	0.15251	0.614000	0.30107	0.655000	0.94253	TTG		0.388	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2		NM_006269		30	50	1	0	3.90053e-15	0.012213	4.73179e-15	30	50		
PRDM14	63978	broad.mit.edu	37	8	70970924	70970924	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:70970924C>T	ENST00000276594.2	-	6	1538	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	446					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GATCCGAAGCCGGTCCCGCTT	0.507																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NaN																	0				ovary(3)	3						c.(1336-1338)CGG>CAG		PR domain containing 14							115.0	103.0	107.0					8																	70970924		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70970924C>T	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1337G>A	8.37:g.70970924C>T	ENSP00000276594:p.Arg446Gln						p.R446Q	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		6	1539	-	Breast(64;0.193)		446			C2H2-type 2.		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1337G>A	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462022	0.96240	.	.	ENSG00000147596	ENST00000276594	T	0.27720	1.65	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	N	0.17872	0.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.31194	-0.9952	10	0.40728	T	0.16	-30.5524	19.9036	0.96999	0.0:1.0:0.0:0.0	.	446	Q9GZV8	PRD14_HUMAN	Q	446	ENSP00000276594:R446Q	ENSP00000276594:R446Q	R	-	2	0	PRDM14	71133478	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.343000	0.79319	2.706000	0.92434	0.655000	0.94253	CGG		0.507	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1				29	42	0	0	0	0.015359	0	29	42		
FAM91A1	157769	broad.mit.edu	37	8	124787454	124787454	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:124787454C>T	ENST00000334705.7	+	3	471	c.225C>T	c.(223-225)ctC>ctT	p.L75L	FAM91A1_ENST00000521166.1_Silent_p.L75L	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	75										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GAGATCATCTCATGCTGTACC	0.388																																						uc003yqv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(223-225)CTC>CTT		hypothetical protein LOC157769							115.0	104.0	108.0					8																	124787454		1930	4142	6072	SO:0001819	synonymous_variant	157769							g.chr8:124787454C>T	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.225C>T	8.37:g.124787454C>T						FAM91A1_uc011lik.1_Silent_p.L75L|FAM91A1_uc011lil.1_5'UTR	p.L75L	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		3	286	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		75					B6YY23|Q658T5|Q8TE89	Silent	SNP	ENST00000334705.7	37	c.225C>T	CCDS6346.2																																																																																				0.388	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1		NM_144963		35	39	0	0	0	0.005524	0	35	39		
MPDZ	8777	broad.mit.edu	37	9	13121876	13121876	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:13121876C>G	ENST00000319217.7	-	38	5340	c.5093G>C	c.(5092-5094)aGa>aCa	p.R1698T	MPDZ_ENST00000546205.1_Missense_Mutation_p.R1712T|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000536827.1_Missense_Mutation_p.R1665T|MPDZ_ENST00000541718.1_Missense_Mutation_p.R1698T|MPDZ_ENST00000447879.1_Missense_Mutation_p.R1665T|MPDZ_ENST00000538841.1_Missense_Mutation_p.R557T|MPDZ_ENST00000381015.4_Missense_Mutation_p.R1698T|MPDZ_ENST00000381022.2_Missense_Mutation_p.R1698T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1698	PDZ 10. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGGCGTCTGTCTCAGGACATT	0.473																																						uc010mia.1		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(5092-5094)AGA>ACA		multiple PDZ domain protein							93.0	86.0	88.0					9																	13121876		2018	4197	6215	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13121876C>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5093G>C	9.37:g.13121876C>G	ENSP00000320006:p.Arg1698Thr					MPDZ_uc003zkx.3_5'Flank|MPDZ_uc003zky.3_Missense_Mutation_p.R232T|MPDZ_uc010mib.2_Missense_Mutation_p.R403T|MPDZ_uc010mhx.2_Missense_Mutation_p.R520T|MPDZ_uc011lmm.1_Missense_Mutation_p.R557T|MPDZ_uc003zkz.3_Missense_Mutation_p.R391T|MPDZ_uc010mhy.2_Missense_Mutation_p.R1698T|MPDZ_uc010mhz.2_Missense_Mutation_p.R1665T|MPDZ_uc011lmn.1_Missense_Mutation_p.R1665T|MPDZ_uc003zlb.3_Missense_Mutation_p.R1698T	p.R1698T	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	37	5150	-			1698			PDZ 10.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.5093G>C		.	.	.	.	.	.	.	.	.	.	C	34	5.353134	0.95830	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.44482	1.57;1.57;1.57;0.92;1.57;1.57;1.57;1.57;1.57;1.57	6.06	6.06	0.98353	PDZ/DHR/GLGF (4);	0.000000	0.50627	D	0.000116	T	0.67306	0.2879	M	0.71871	2.18	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.991;1.0;0.999;0.997;0.999;0.999	D;D;D;D;D;D;D	0.97110	0.999;0.992;0.999;0.999;0.999;0.999;1.0	T	0.67122	-0.5750	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1665;557;403;1665;1578;1698;1698	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970	.;.;.;.;.;.;MPDZ_HUMAN	T	1698;1698;1698;239;634;557;1665;1665;1698;1578;1712	ENSP00000320006:R1698T;ENSP00000439807:R1698T;ENSP00000370410:R1698T;ENSP00000415964:R239T;ENSP00000444230:R634T;ENSP00000444717:R557T;ENSP00000444151:R1665T;ENSP00000415208:R1665T;ENSP00000370403:R1698T;ENSP00000446358:R1712T	ENSP00000320006:R1698T	R	-	2	0	MPDZ	13111876	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.806000	0.86020	2.882000	0.98803	0.655000	0.94253	AGA		0.473	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829		11	2	0	0	0	0.010729	0	11	2		
NTRK2	4915	broad.mit.edu	37	9	87366903	87366903	+	Silent	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:87366903C>A	ENST00000323115.4	+	11	1652	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V	NTRK2_ENST00000376213.1_Silent_p.V433V|NTRK2_ENST00000376214.1_Silent_p.V433V|NTRK2_ENST00000395866.2_Silent_p.V277V|NTRK2_ENST00000376208.1_Silent_p.V433V|NTRK2_ENST00000277120.3_Silent_p.V433V|NTRK2_ENST00000359847.3_Silent_p.V433V|NTRK2_ENST00000304053.6_Silent_p.V433V|NTRK2_ENST00000395882.1_Silent_p.V433V			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	433					activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TTCTCTAGGTCTATGCTGTGG	0.423										TSP Lung(25;0.17)																												uc004aoa.1		NaN																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(1297-1299)GTC>GTA		neurotrophic tyrosine kinase, receptor, type 2							337.0	268.0	291.0					9																	87366903		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87366903C>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1299C>A	9.37:g.87366903C>A		TSP Lung(25;0.17)				NTRK2_uc004anv.1_Silent_p.V420V|NTRK2_uc004any.1_Silent_p.V433V|NTRK2_uc004anz.1_Silent_p.V433V|NTRK2_uc011lsz.1_Silent_p.V433V|NTRK2_uc011lta.1_Silent_p.V433V|NTRK2_uc004aob.1_Silent_p.V433V|NTRK2_uc011ltb.1_Silent_p.V277V|NTRK2_uc004aoc.2_5'UTR	p.V433V	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			14	2237	+			433			Helical; (Potential).		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.1299C>A	CCDS35050.1																																																																																				0.423	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1				29	35	1	0	8.73648e-17	0.019004	1.09576e-16	29	35		
PTCH1	5727	broad.mit.edu	37	9	98209683	98209683	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:98209683C>A	ENST00000331920.6	-	23	4154	c.3855G>T	c.(3853-3855)caG>caT	p.Q1285H	PTCH1_ENST00000421141.1_Missense_Mutation_p.Q1134H|PTCH1_ENST00000437951.1_Missense_Mutation_p.Q1219H|PTCH1_ENST00000430669.2_Missense_Mutation_p.Q1219H|PTCH1_ENST00000375274.2_Missense_Mutation_p.Q1284H|PTCH1_ENST00000418258.1_Missense_Mutation_p.Q1134H|PTCH1_ENST00000429896.2_Missense_Mutation_p.Q1134H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1285					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCAGGTGGGGCTGCTGTCTCG	0.677																																						uc004avk.3		NaN																	0				skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(3853-3855)CAG>CAT		patched isoform L							50.0	61.0	57.0					9																	98209683		2156	4271	6427	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98209683C>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3855G>T	9.37:g.98209683C>A	ENSP00000332353:p.Gln1285His					PTCH1_uc010mrn.2_Missense_Mutation_p.Q77H|PTCH1_uc010mro.2_Missense_Mutation_p.Q1134H|PTCH1_uc010mrp.2_Missense_Mutation_p.Q1134H|PTCH1_uc010mrq.2_Missense_Mutation_p.Q1134H|PTCH1_uc004avl.3_Missense_Mutation_p.Q1134H|PTCH1_uc010mrr.2_Missense_Mutation_p.Q1219H|PTCH1_uc004avm.3_Missense_Mutation_p.Q1284H	p.Q1285H	NM_000264	NP_000255	Q13635	PTC1_HUMAN			23	4043	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1285			Cytoplasmic (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3855G>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044921	0.36085	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90385	-2.66;-2.65;-2.63;-2.63;-2.65;-2.63;-2.66	4.83	0.826	0.18829	.	0.363219	0.28700	N	0.014423	D	0.83543	0.5277	L	0.51422	1.61	0.30699	N	0.750474	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.71988	-0.4426	10	0.33940	T	0.23	-4.6318	4.1047	0.10032	0.2544:0.4643:0.0:0.2813	.	1219;1284;1285	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	H	1285;1219;1134;1134;1219;77;1134;1284	ENSP00000332353:Q1285H;ENSP00000389744:Q1219H;ENSP00000399981:Q1134H;ENSP00000396135:Q1134H;ENSP00000410287:Q1219H;ENSP00000414823:Q1134H;ENSP00000364423:Q1284H	ENSP00000332353:Q1285H	Q	-	3	2	PTCH1	97249504	0.470000	0.25854	0.994000	0.49952	0.848000	0.48234	0.223000	0.17719	-0.011000	0.14247	-0.156000	0.13503	CAG		0.677	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264		76	85	1	0	1.49228e-48	0.01441	2.32482e-48	76	85		
OR1Q1	158131	broad.mit.edu	37	9	125377931	125377931	+	Missense_Mutation	SNP	G	G	A	rs112809062		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:125377931G>A	ENST00000297913.2	+	1	984	c.915G>A	c.(913-915)atG>atA	p.M305I	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	305					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TGAAATGGATGAGCAGAATGC	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19847	0.0		0.0	False		,,,				2504	0.0					uc011lyy.1		NaN																	0				ovary(1)	1						c.(913-915)ATG>ATA		olfactory receptor, family 1, subfamily Q,							51.0	50.0	50.0					9																	125377931		2203	4300	6503	SO:0001583	missense	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377931G>A		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.915G>A	9.37:g.125377931G>A	ENSP00000297913:p.Met305Ile						p.M305I	NM_012364	NP_036496	Q15612	OR1Q1_HUMAN			1	915	+			305			Cytoplasmic (Potential).		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.915G>A	CCDS35125.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.424	0.078504	0.08533	.	.	ENSG00000165202	ENST00000297913	T	0.35236	1.32	5.57	1.63	0.23807	.	1.044480	0.07512	N	0.909104	T	0.13500	0.0327	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31668	-0.9935	10	0.06494	T	0.89	-5.7899	3.0325	0.06111	0.2147:0.1216:0.5387:0.125	.	305	Q15612	OR1Q1_HUMAN	I	305	ENSP00000297913:M305I	ENSP00000297913:M305I	M	+	3	0	OR1Q1	124417752	0.051000	0.20477	0.002000	0.10522	0.047000	0.14425	-0.229000	0.09098	0.456000	0.26937	-0.142000	0.14014	ATG		0.443	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1				32	24	0	0	0	0.021022	0	32	24		
ZBTB43	23099	broad.mit.edu	37	9	129595162	129595162	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:129595162G>A	ENST00000373464.4	+	3	638	c.374G>A	c.(373-375)gGa>gAa	p.G125E	ZBTB43_ENST00000449886.1_Missense_Mutation_p.G125E|ZBTB43_ENST00000373457.1_Missense_Mutation_p.G125E	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GTTTTAGAGGGAAACCCTACA	0.483																																						uc004bql.2		NaN																	0				ovary(1)	1						c.(373-375)GGA>GAA		zinc finger and BTB domain containing 43							57.0	58.0	58.0					9																	129595162		2203	4300	6503	SO:0001583	missense	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129595162G>A	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.374G>A	9.37:g.129595162G>A	ENSP00000362563:p.Gly125Glu					ZBTB43_uc010mxf.2_Missense_Mutation_p.G125E	p.G125E	NM_014007	NP_054726	O43298	ZBT43_HUMAN			3	647	+			125					Q5JU96	Missense_Mutation	SNP	ENST00000373464.4	37	c.374G>A	CCDS6867.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223118	0.39300	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000450858;ENST00000373457	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.75	5.75	0.90469	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	N	0.01482	-0.84	0.47407	D	0.999413	B	0.29909	0.261	B	0.26614	0.071	T	0.47774	-0.9091	10	0.02654	T	1	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	125	O43298	ZBT43_HUMAN	E	125	ENSP00000390344:G125E;ENSP00000362563:G125E;ENSP00000412145:G125E;ENSP00000362556:G125E	ENSP00000362556:G125E	G	+	2	0	ZBTB43	128634983	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	7.398000	0.79919	2.878000	0.98634	0.650000	0.86243	GGA		0.483	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1		NM_001135776		15	24	0	0	0	0.00499	0	15	24		
GUCY2F	2986	broad.mit.edu	37	X	108708376	108708376	+	Missense_Mutation	SNP	C	C	A	rs149453194	byFrequency	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chrX:108708376C>A	ENST00000218006.2	-	3	1318	c.1027G>T	c.(1027-1029)Gat>Tat	p.D343Y		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	343					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTTACTTGATCGAACTCCAGC	0.433																																						uc004eod.3		NaN																	0				lung(4)|breast(3)|central_nervous_system(1)	8						c.(1027-1029)GAT>TAT		guanylate cyclase 2F precursor							145.0	121.0	129.0					X																	108708376		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108708376C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1027G>T	X.37:g.108708376C>A	ENSP00000218006:p.Asp343Tyr					GUCY2F_uc011msq.1_RNA	p.D343Y	NM_001522	NP_001513	P51841	GUC2F_HUMAN			3	1303	-			343			Extracellular (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.1027G>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	7.922	0.738751	0.15642	.	.	ENSG00000101890	ENST00000218006	D	0.81908	-1.55	4.17	1.8	0.24995	Extracellular ligand-binding receptor (1);	0.538750	0.21607	N	0.071850	T	0.67439	0.2893	N	0.08118	0	0.25338	N	0.988979	B	0.24576	0.106	B	0.37239	0.244	T	0.59783	-0.7389	10	0.59425	D	0.04	.	3.9517	0.09372	0.0:0.4511:0.3219:0.227	.	343	P51841	GUC2F_HUMAN	Y	343	ENSP00000218006:D343Y	ENSP00000218006:D343Y	D	-	1	0	GUCY2F	108595032	0.034000	0.19679	0.971000	0.41717	0.439000	0.31926	0.301000	0.19174	0.281000	0.22233	0.594000	0.82650	GAT		0.433	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1		NM_001522		61	7	1	0	8.40228e-50	0.01441	1.33714e-49	61	7		
AFF2	2334	broad.mit.edu	37	X	148055007	148055007	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chrX:148055007A>C	ENST00000370460.2	+	16	3753	c.3274A>C	c.(3274-3276)Aaa>Caa	p.K1092Q	AFF2_ENST00000342251.3_Missense_Mutation_p.K1059Q|AFF2_ENST00000370457.5_Missense_Mutation_p.K1057Q|AFF2_ENST00000286437.5_Missense_Mutation_p.K733Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1092					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGTTCGAGAAATTTGGCAA	0.463																																						uc004fcp.2		NaN																	0				ovary(3)|pancreas(2)	5						c.(3274-3276)AAA>CAA		fragile X mental retardation 2							175.0	146.0	156.0					X																	148055007		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148055007A>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3274A>C	X.37:g.148055007A>C	ENSP00000359489:p.Lys1092Gln					AFF2_uc004fcq.2_Missense_Mutation_p.K1082Q|AFF2_uc004fcr.2_Missense_Mutation_p.K1053Q|AFF2_uc011mxb.1_Missense_Mutation_p.K1057Q|AFF2_uc004fcs.2_Missense_Mutation_p.K1057Q|AFF2_uc011mxc.1_Missense_Mutation_p.K733Q	p.K1092Q	NM_002025	NP_002016	P51816	AFF2_HUMAN			16	3753	+	Acute lymphoblastic leukemia(192;6.56e-05)		1092					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3274A>C	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234100	0.79688	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.82935	0.5145	M	0.84082	2.675	0.48632	D	0.999683	D;D;D;D;D;D	0.89917	0.98;0.99;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.973;0.958;0.999;0.988;0.988;0.993	D	0.85604	0.1254	10	0.72032	D	0.01	.	14.9846	0.71336	1.0:0.0:0.0:0.0	.	733;1057;1057;1053;1082;1092	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Q	1092;1057;1059;733	ENSP00000359489:K1092Q;ENSP00000359486:K1057Q;ENSP00000345459:K1059Q;ENSP00000286437:K733Q	ENSP00000286437:K733Q	K	+	1	0	AFF2	147862696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.385000	0.79763	1.921000	0.55644	0.486000	0.48141	AAA		0.463	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2		NM_002025		76	6	0	0	0	0.01441	0	76	6		
KMT2D	8085	broad.mit.edu	37	12	49420342	49420343	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08			-	GC	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:49420342_49420343insGC	ENST00000301067.7	-	48	15405_15406	c.15406_15407insGC	c.(15406-15408)catfs	p.H5136fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5136					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTTGATCTTATGCATTGGACAC	0.52																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15406-15408)CATfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420342_49420343insGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15405_15406dupGC	12.37:g.49420343_49420344dupGC	ENSP00000301067:p.His5136fs	HNSCC(34;0.089)					p.H5136fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15406_15407	-			5136			RING-type 4; degenerate.		O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.15406_15407insGC	CCDS44873.1																																																																																				0.520	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				53	76	NaN	NaN	NaN	NaN	NaN	53	76	---	---
KRT84	3890	broad.mit.edu	37	12	52771821	52771822	+	Frame_Shift_Ins	INS	-	-	TA	rs372571026	byFrequency	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:52771821_52771822insTA	ENST00000257951.3	-	9	1865_1866	c.1799_1800insTA	c.(1798-1800)tacfs	p.Y600fs	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	600	Tail.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGGCTCTCAGTACTTGGTCCG	0.688														46	0.0091853	0.0318	0.0043	5008	,	,		14402	0.0		0.001	False		,,,				2504	0.0					uc001sah.1		NaN																	0				skin(1)	1						c.(1798-1800)TACfs		keratin, hair, basic, 4				104,4154		3,98,2028						3.3	1.0			28	1,8245		0,1,4122	no	frameshift	KRT84	NM_033045.3		3,99,6150	A1A1,A1R,RR		0.0121,2.4425,0.8397				105,12399				SO:0001589	frameshift_variant	3890					keratin filament	structural constituent of epidermis	g.chr12:52771821_52771822insTA	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1798_1799dupTA	12.37:g.52771822_52771823dupTA	ENSP00000257951:p.Tyr600fs						p.Y600fs	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1847_1848	-	all_hematologic(5;0.12)		600			Tail.		B2RA43|Q6ISB0|Q701L6	Frame_Shift_Ins	INS	ENST00000257951.3	37	c.1799_1800insTA	CCDS8825.1																																																																																				0.688	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1		NM_033045		4	7	NaN	NaN	NaN	NaN	NaN	4	7	---	---
HDC	3067	broad.mit.edu	37	15	50557790	50557791	+	Splice_Site	DEL	CT	CT	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:50557790_50557791delCT	ENST00000267845.3	-	1	432_433	c.30_31delAG	c.(28-33)agaggg>aggg	p.G11fs	HDC_ENST00000543581.1_Splice_Site_p.G11fs	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0	Ala/Gly-rich.				respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CGTTGCTCACCTCTCTCTCTGT	0.599																																					GBM(95;1627 1936 6910 9570)	uc001zxz.2		NaN																	0				large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(28-33)AGAGGGfs		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)																																			SO:0001630	splice_region_variant	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50557790_50557791delCT		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.31+1AG>-	15.37:g.50557798_50557799delCT						HDC_uc010uff.1_Frame_Shift_Del_p.R10fs|HDC_uc010bet.1_Frame_Shift_Del_p.R10fs|HDC_uc010beu.1_Frame_Shift_Del_p.R10fs	p.R10fs	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	1	136_137	-		all_lung(180;0.0138)	10_11						Frame_Shift_Del	DEL	ENST00000267845.3	37	c.30_31delAG	CCDS10134.1																																																																																				0.599	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			Frame_Shift_Del	8	80	NaN	NaN	NaN	NaN	NaN	8	80	---	---
ZNF598	90850	broad.mit.edu	37	16	2049881	2049883	+	In_Frame_Del	DEL	CGT	CGT	-	rs61746014|rs377495742|rs370831505|rs141374045	byFrequency	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:2049881_2049883delCGT	ENST00000563630.1	-	9	1744_1746	c.1502_1504delACG	c.(1501-1506)gacggc>ggc	p.D501del	ZNF598_ENST00000431526.1_In_Frame_Del_p.D556del|ZNF598_ENST00000562103.1_In_Frame_Del_p.D501del|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	556							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCCGGGCCGCCGTCCTCCTCCTC	0.7																																						uc002cof.1		NaN																	1	Insertion - In frame(1)		kidney(1)	lung(1)|breast(1)	2						c.(1666-1671)GACGGC>GGC		zinc finger protein 598				173,3565		14,145,1710						1.9	0.0		dbSNP_134	10	15,7811		1,13,3899	no	coding	ZNF598	NM_178167.2		15,158,5609	A1A1,A1R,RR		0.1917,4.6281,1.6257				188,11376				SO:0001651	inframe_deletion	90850					intracellular	zinc ion binding	g.chr16:2049881_2049883delCGT	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1502_1504delACG	16.37:g.2049881_2049883delCGT	ENSP00000455882:p.Asp501del					ZNF598_uc002coe.1_5'UTR	p.D556del	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN			11	1682_1684	-			556					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	In_Frame_Del	DEL	ENST00000563630.1	37	c.1667_1669delACG																																																																																					0.700	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1		NM_178167		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
GRIN2C	2905	broad.mit.edu	37	17	72839417	72839418	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:72839417_72839418insG	ENST00000293190.5	-	13	3004_3005	c.2858_2859insC	c.(2857-2859)ccafs	p.P953fs		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	953					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCTCGGCTCTGGGGGCGGGTC	0.817																																						uc002jlt.1		NaN																	0				ovary(2)|breast(2)	4						c.(2857-2859)CCAfs		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)																																			SO:0001589	frameshift_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72839417_72839418insG		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2859dupC	17.37:g.72839422_72839422dupG	ENSP00000293190:p.Pro953fs					GRIN2C_uc010wrh.1_RNA	p.P953fs	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			13	3014_3015	-	all_lung(278;0.172)|Lung NSC(278;0.207)		953			Cytoplasmic (Potential).		B2RTT1	Frame_Shift_Ins	INS	ENST00000293190.5	37	c.2858_2859insC	CCDS32724.1																																																																																				0.817	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1				2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCATGGGACATTTTTTTTCGC	0.577																																						uc003tln.2		NaN																	1	Deletion - Frameshift(1)		breast(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(232-234)ATTfs		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						127.0	121.0	123.0					7																	44684936		2203	4300	6503	SO:0001589	frameshift_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44684936delT	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.233delT	7.37:g.44684936delT	ENSP00000222673:p.Ile78fs					OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR	p.I78fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN			3	342	+			78					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	c.233delT	CCDS34627.1																																																																																				0.577	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1				7	246	NaN	NaN	NaN	NaN	NaN	7	246	---	---
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53																																						uc010lqk.1		NaN																	0				ovary(1)	1						c.(1711-1716)CCCACAfs		RNA binding motif protein 33																																				SO:0001589	frameshift_variant	155435						nucleotide binding|RNA binding	g.chr7:155531073_155531074delCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1713_1714delCA	7.37:g.155531083_155531084delCA	ENSP00000384160:p.Thr572fs					RBM33_uc011kvv.1_Frame_Shift_Del_p.P380fs	p.P571fs	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	2081_2082	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	571_572			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	c.1713_1714delCA	CCDS5941.2																																																																																				0.530	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3		NM_001008408		7	113	NaN	NaN	NaN	NaN	NaN	7	113	---	---
PCM1	5108	broad.mit.edu	37	8	17868136	17868137	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:17868136_17868137insTC	ENST00000519253.1	+	32	5406_5407	c.5155_5156insTC	c.(5155-5157)gatfs	p.D1719fs	PCM1_ENST00000325083.8_Frame_Shift_Ins_p.D1727fs|PCM1_ENST00000524226.1_Frame_Shift_Ins_p.D1673fs|PCM1_ENST00000327578.8_Frame_Shift_Ins_p.D426fs			Q15154	PCM1_HUMAN	pericentriolar material 1	1727	Interaction with HAP1.				centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GATTCTTGAAGATCATGGCTCA	0.386			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	uc003wyi.3		NaN		Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	0				haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(5179-5181)GATfs		pericentriolar material 1																																				SO:0001589	frameshift_variant	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17868136_17868137insTC		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	Exception_encountered	8.37:g.17868136_17868137insTC	ENSP00000431099:p.Asp1719fs					PCM1_uc011kyh.1_Frame_Shift_Ins_p.D1719fs|PCM1_uc003wyj.3_Frame_Shift_Ins_p.D1673fs|PCM1_uc011kyi.1_Frame_Shift_Ins_p.D526fs|PCM1_uc011kyj.1_Frame_Shift_Ins_p.D483fs|PCM1_uc003wyk.3_Frame_Shift_Ins_p.D409fs|PCM1_uc011kyk.1_Frame_Shift_Ins_p.D343fs	p.D1727fs	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	32	5601_5602	+			1727			Interaction with HAP1.		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Frame_Shift_Ins	INS	ENST00000519253.1	37	c.5179_5180insTC																																																																																					0.386	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1		NM_006197		12	15	NaN	NaN	NaN	NaN	NaN	12	15	---	---
