#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
GABRD	2563	broad.mit.edu	37	1	1957086	1957086	+	Missense_Mutation	SNP	G	G	A	rs562124721		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:1957086G>A	ENST00000378585.4	+	4	462	c.379G>A	c.(379-381)Gtg>Atg	p.V127M		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	127					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CACCTTCATCGTGAACGCCAA	0.637																																						uc001aip.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(379-381)Gtg>Atg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.							105.0	100.0	102.0					1																	1957086		2203	4300	6503	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1957086G>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.379G>A	1.37:g.1957086G>A	ENSP00000367848:p.Val127Met						p.V127M	NM_000815	NP_000806	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	3	474	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	127					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.379G>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468842	0.84533	.	.	ENSG00000187730	ENST00000378585	T	0.78816	-1.21	4.54	4.54	0.55810	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85797	0.1371	10	0.48119	T	0.1	-8.9562	16.8321	0.85947	0.0:0.0:1.0:0.0	.	127	O14764	GBRD_HUMAN	M	127	ENSP00000367848:V127M	ENSP00000367848:V127M	V	+	1	0	GABRD	1946946	1.000000	0.71417	0.668000	0.29813	0.530000	0.34684	5.156000	0.64905	2.525000	0.85131	0.561000	0.74099	GTG		0.637	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815	
RERE	473	broad.mit.edu	37	1	8419978	8419978	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:8419978G>A	ENST00000337907.3	-	20	4098	c.3464C>T	c.(3463-3465)gCc>gTc	p.A1155V	RERE_ENST00000476556.1_Missense_Mutation_p.A601V|RERE_ENST00000400908.2_Missense_Mutation_p.A1155V|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.A887V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1155					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTGGACCCGGCCAGAGGCAT	0.597																																						uc001ape.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3463-3465)gCc>gTc		Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.							58.0	62.0	60.0					1																	8419978		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8419978G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3464C>T	1.37:g.8419978G>A	ENSP00000338629:p.Ala1155Val					RERE_uc001apf.3_Missense_Mutation_p.A1155V|RERE_uc001apd.3_Missense_Mutation_p.A601V	p.A1155V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	19	4274	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1155					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.3464C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111830	0.56398	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.48201	0.82;0.83;1.01;0.82	5.56	3.68	0.42216	.	.	.	.	.	T	0.52451	0.1735	L	0.51422	1.61	0.49299	D	0.999772	D	0.61697	0.99	P	0.57152	0.814	T	0.50558	-0.8814	9	0.56958	D	0.05	-12.1912	7.5175	0.27608	0.0754:0.0:0.6281:0.2965	.	1155	Q9P2R6	RERE_HUMAN	V	1155;887;601;1155	ENSP00000338629:A1155V;ENSP00000366684:A887V;ENSP00000422246:A601V;ENSP00000383700:A1155V	ENSP00000338629:A1155V	A	-	2	0	RERE	8342565	1.000000	0.71417	0.938000	0.37757	0.406000	0.30931	6.588000	0.74076	0.692000	0.31613	-0.181000	0.13052	GCC		0.597	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
RERE	473	broad.mit.edu	37	1	8684379	8684379	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:8684379T>G	ENST00000337907.3	-	4	1020	c.386A>C	c.(385-387)gAc>gCc	p.D129A	RERE_ENST00000400908.2_Missense_Mutation_p.D129A|RERE_ENST00000400907.2_Missense_Mutation_p.D129A	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	129	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D129V(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGTTTGAAGTCTTGAATGCT	0.383																																						uc001ape.3																			1	Substitution - Missense(1)	p.D129V(2)	lung(1)	central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(385-387)gAc>gCc		Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.							174.0	165.0	168.0					1																	8684379		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8684379T>G	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.386A>C	1.37:g.8684379T>G	ENSP00000338629:p.Asp129Ala					RERE_uc001apf.3_Missense_Mutation_p.D129A|RERE_uc001aph.1_Missense_Mutation_p.D129A	p.D129A	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	1196	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	129			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.386A>C	CCDS95.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.24|15.24	2.775323|2.775323	0.49786|0.49786	.|.	.|.	ENSG00000142599|ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908|ENST00000514428	D;D;D|.	0.85556|.	-2.0;-2.0;-2.0|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Bromo adjacent homology (BAH) domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.48572|0.48572	0.1507|0.1507	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|T	0.45760|0.45760	-0.9239|-0.9239	9|5	0.72032|.	D|.	0.01|.	-24.7115|-24.7115	15.3794|15.3794	0.74641|0.74641	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	129|.	Q9P2R6|.	RERE_HUMAN|.	A|P	129|21	ENSP00000338629:D129A;ENSP00000383699:D129A;ENSP00000383700:D129A|.	ENSP00000338629:D129A|.	D|T	-|-	2|1	0|0	RERE|RERE	8606966|8606966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.337000|7.337000	0.79256|0.79256	2.284000|2.284000	0.76573|0.76573	0.528000|0.528000	0.53228|0.53228	GAC|ACT		0.383	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
KPNA6	23633	broad.mit.edu	37	1	32622514	32622514	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:32622514C>A	ENST00000373625.3	+	3	292	c.199C>A	c.(199-201)Ctc>Atc	p.L67I	KPNA6_ENST00000537234.1_Missense_Mutation_p.L64I|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.L72I	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	67					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CGATAGTCTTCTCATGGACTC	0.468																																						uc010ogy.2																			0				large_intestine(2)	2						c.(214-216)Ctc>Atc		Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.							146.0	136.0	139.0					1																	32622514		2203	4300	6503	SO:0001583	missense	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32622514C>A	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.199C>A	1.37:g.32622514C>A	ENSP00000362728:p.Leu67Ile					KPNA6_uc001bug.3_Missense_Mutation_p.L67I|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Missense_Mutation_p.L64I	p.L72I	NM_012316	NP_036448	O60684	IMA7_HUMAN			2	241	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	67					B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	c.214C>A	CCDS352.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821925	0.50633	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.29142	1.58;1.58;1.58;2.51	5.39	5.39	0.77823	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	N	0.11560	0.145	0.58432	D	0.999999	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.15484	0.008;0.013;0.008	T	0.04268	-1.0964	10	0.34782	T	0.22	-3.5442	19.5354	0.95251	0.0:1.0:0.0:0.0	.	72;72;67	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	I	67;41;64;72;18	ENSP00000362728:L67I;ENSP00000444930:L64I;ENSP00000440609:L72I;ENSP00000415677:L18I	ENSP00000362719:L41I	L	+	1	0	KPNA6	32395101	0.985000	0.35326	1.000000	0.80357	0.990000	0.78478	2.596000	0.46205	2.709000	0.92574	0.655000	0.94253	CTC		0.468	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316	
HPCA	3208	broad.mit.edu	37	1	33354728	33354728	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:33354728G>A	ENST00000373467.3	+	2	331	c.229G>A	c.(229-231)Gat>Aat	p.D77N	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CACCAACAGCGATGGCACCAT	0.547																																						uc001bwh.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(229-231)Gat>Aat		Homo sapiens hippocalcin (HPCA), mRNA.							142.0	126.0	131.0					1																	33354728		2203	4300	6503	SO:0001583	missense	3208						actin binding|calcium ion binding	g.chr1:33354728G>A	BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"""EF-hand domain containing"""	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.229G>A	1.37:g.33354728G>A	ENSP00000362566:p.Asp77Asn						p.D77N	NM_002143	NP_002134	P84074	HPCA_HUMAN			1	269	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	77			EF-hand 2.		B2R9T3|D3DPQ7|P32076|P41211|P70510	Missense_Mutation	SNP	ENST00000373467.3	37	c.229G>A	CCDS370.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042103	0.93685	.	.	ENSG00000121905	ENST00000373467	T	0.72835	-0.69	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	L	0.45698	1.435	0.80722	D	1	D	0.54207	0.965	P	0.46917	0.531	T	0.64896	-0.6299	10	0.22706	T	0.39	.	17.9008	0.88902	0.0:0.0:1.0:0.0	.	77	P84074	HPCA_HUMAN	N	77	ENSP00000362566:D77N	ENSP00000362566:D77N	D	+	1	0	HPCA	33127315	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.565000	0.98154	2.894000	0.99253	0.655000	0.94253	GAT		0.547	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1	NM_002143	
JAK1	3716	broad.mit.edu	37	1	65301859	65301860	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:65301859_65301860insAT	ENST00000342505.4	-	23	3427_3428	c.3179_3180insAT	c.(3178-3180)attfs	p.I1060fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1060	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CGTCAGAGGCAATATAAAATTT	0.421			Mis		ALL																																	uc001dbu.1				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3178-3180)attfs		Homo sapiens Janus kinase 1 (JAK1), mRNA.																																				SO:0001589	frameshift_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65301859_65301860insAT	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3178_3179dupAT	1.37:g.65301862_65301863dupAT	ENSP00000343204:p.Ile1060fs					JAK1_uc009wam.1_Frame_Shift_Ins_p.I1060fs|JAK1_uc009wal.1_Frame_Shift_Ins_p.I237fs	p.I1060fs	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	22	3428_3429	-			1060			Protein kinase 2.		Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	ENST00000342505.4	37	c.3179_3180insAT	CCDS41346.1																																																																																				0.421	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
CDC73	79577	broad.mit.edu	37	1	193099308	193099309	+	Frame_Shift_Ins	INS	-	-	AAATATT			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:193099308_193099309insAAATATT	ENST00000367435.3	+	3	426_427	c.242_243insAAATATT	c.(241-246)gaaaatfs	p.-82fs		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73						cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TTTTAGACTGAAAATATTCCTG	0.292																																						uc001gtb.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(241-243)gaafs		Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.																																				SO:0001589	frameshift_variant	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193099308_193099309insAAATATT	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.243_249dupAAATATT	1.37:g.193099309_193099315dupAAATATT	ENSP00000356405:p.Asn82fs						p.E81fs	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN			2	485_486	+			81					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Frame_Shift_Ins	INS	ENST00000367435.3	37	c.242_243insAAATATT	CCDS1382.1																																																																																				0.292	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529	
NAV1	89796	broad.mit.edu	37	1	201782286	201782286	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:201782286C>T	ENST00000367296.4	+	28	5660	c.5240C>T	c.(5239-5241)tCg>tTg	p.S1747L	NAV1_ENST00000367300.3_Missense_Mutation_p.S1687L|NAV1_ENST00000367302.1_Missense_Mutation_p.S1700L|NAV1_ENST00000367295.1_Missense_Mutation_p.S1353L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.S1739L|NAV1_ENST00000295624.6_Missense_Mutation_p.S1744L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1747					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTCTTTCTGTCGTGTCCCATT	0.507																																						uc021phi.1																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(5239-5241)tCg>tTg		Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.							156.0	127.0	137.0					1																	201782286		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201782286C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5240C>T	1.37:g.201782286C>T	ENSP00000356265:p.Ser1747Leu					NAV1_uc001gwu.3_Missense_Mutation_p.S1744L|NAV1_uc001gwx.3_Missense_Mutation_p.S1353L	p.S1747L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			27	5587	+			1747					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.5240C>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	35	5.564761	0.96527	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295;ENST00000367301	T;T;T;T;T;T	0.10960	2.9;2.82;2.83;2.83;2.9;2.82	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.00773	-1.1572	10	0.72032	D	0.01	-29.1924	20.1575	0.98120	0.0:1.0:0.0:0.0	.	1353;1744	Q8NEY1-5;Q8NEY1-3	.;.	L	1700;1747;1744;1739;1687;1353;157	ENSP00000356271:S1700L;ENSP00000356265:S1747L;ENSP00000295624:S1744L;ENSP00000356266:S1739L;ENSP00000356269:S1687L;ENSP00000356264:S1353L	ENSP00000295624:S1744L	S	+	2	0	NAV1	200048909	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.795000	0.85887	2.850000	0.98022	0.650000	0.86243	TCG		0.507	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443	
RYR2	6262	broad.mit.edu	37	1	237936883	237936883	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:237936883C>T	ENST00000366574.2	+	87	12027	c.11710C>T	c.(11710-11712)Cgg>Tgg	p.R3904W	RYR2_ENST00000542537.1_Missense_Mutation_p.R3888W|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R3910W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3904					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAAGGACAACGGAATTTCTC	0.338																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(11710-11712)Cgg>Tgg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							118.0	112.0	113.0					1																	237936883		1838	4090	5928	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237936883C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11710C>T	1.37:g.237936883C>T	ENSP00000355533:p.Arg3904Trp					RYR2_uc010pya.2_Missense_Mutation_p.R319W	p.R3904W	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		86	11830	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3904					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11710C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573773	0.65765	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.95272	-3.66;-3.66;-3.66	5.04	3.12	0.35913	RyR/IP3R Homology associated domain (1);	0.000000	0.53938	U	0.000049	D	0.94935	0.8362	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.971;0.98	D	0.94433	0.7651	10	0.72032	D	0.01	-12.1556	13.0854	0.59138	0.4469:0.5531:0.0:0.0	.	878;3904	B4DGV4;Q92736	.;RYR2_HUMAN	W	3904;3910;3888;878	ENSP00000355533:R3904W;ENSP00000353174:R3910W;ENSP00000443798:R3888W	ENSP00000353174:R3910W	R	+	1	2	RYR2	236003506	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.162000	0.31786	0.587000	0.29643	0.579000	0.79373	CGG		0.338	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
C10orf2	56652	broad.mit.edu	37	10	102748161	102748161	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr10:102748161G>A	ENST00000311916.2	+	1	379	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	C10orf2_ENST00000370228.1_Missense_Mutation_p.R65Q|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000342071.1_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	65					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.R65Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGTATTTGCGGGGGCATGGG	0.572																																						uc001ksf.2																			1	Substitution - Missense(1)	p.R65Q(2)	skin(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(193-195)cGg>cAg		Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.							97.0	101.0	100.0					10																	102748161		2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102748161G>A	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.194G>A	10.37:g.102748161G>A	ENSP00000309595:p.Arg65Gln					MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.R65Q|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	p.R65Q	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	0	869	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	65					B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.194G>A	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850193	0.91277	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.95980	-3.6;-3.87	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97241	0.9098	M	0.65498	2.005	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.92	D	0.97637	1.0146	10	0.72032	D	0.01	-15.8217	18.1752	0.89759	0.0:0.0:1.0:0.0	.	65;65	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	Q	65	ENSP00000309595:R65Q;ENSP00000359248:R65Q	ENSP00000309595:R65Q	R	+	2	0	C10orf2	102738151	1.000000	0.71417	0.963000	0.40424	0.747000	0.42532	7.625000	0.83145	2.631000	0.89168	0.442000	0.29010	CGG		0.572	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830	
OR5L2	26338	broad.mit.edu	37	11	55594981	55594981	+	Missense_Mutation	SNP	G	G	T	rs267602980		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr11:55594981G>T	ENST00000378397.1	+	1	287	c.287G>T	c.(286-288)gGg>gTg	p.G96V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCTTCCTAGGGTGCATGGTG	0.473										HNSCC(27;0.073)																												uc001nhy.1																			0		p.L95I(1)|p.L95V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(286-288)gGg>gTg		Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.							193.0	183.0	186.0					11																	55594981		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594981G>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.287G>T	11.37:g.55594981G>T	ENSP00000367650:p.Gly96Val	HNSCC(27;0.073)					p.G96V	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			0	287	+		all_epithelial(135;0.208)	96					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.287G>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.369550	0.24771	.	.	ENSG00000205030	ENST00000378397	T	0.09817	2.94	5.21	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.617496	0.14582	N	0.310798	T	0.22704	0.0548	M	0.89214	3.015	0.09310	N	0.999994	P	0.45396	0.857	P	0.44811	0.461	T	0.12553	-1.0543	10	0.87932	D	0	-0.9521	9.4814	0.38902	0.0812:0.1747:0.7441:0.0	.	96	Q8NGL0	OR5L2_HUMAN	V	96	ENSP00000367650:G96V	ENSP00000367650:G96V	G	+	2	0	OR5L2	55351557	0.000000	0.05858	0.027000	0.17364	0.277000	0.26821	0.048000	0.14078	0.671000	0.31185	0.626000	0.83405	GGG		0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739	
MED17	9440	broad.mit.edu	37	11	93543034	93543034	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr11:93543034C>A	ENST00000251871.3	+	11	2023	c.1736C>A	c.(1735-1737)gCt>gAt	p.A579D	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	579					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGTGACTATGCTATTTCAGGT	0.408																																						uc001pem.4																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.(1735-1737)gCt>gAt		Homo sapiens mediator complex subunit 17 (MED17), mRNA.							172.0	159.0	164.0					11																	93543034		2201	4298	6499	SO:0001583	missense	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93543034C>A	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1736C>A	11.37:g.93543034C>A	ENSP00000251871:p.Ala579Asp						p.A579D	NM_004268	NP_004259	Q9NVC6	MED17_HUMAN			10	2011	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	579					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	c.1736C>A	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170164	0.57584	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.56776	0.44	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	L	0.44542	1.39	0.80722	D	1	B	0.23735	0.09	B	0.21708	0.036	T	0.41270	-0.9518	10	0.49607	T	0.09	-20.3816	20.3668	0.98882	0.0:1.0:0.0:0.0	.	579	Q9NVC6	MED17_HUMAN	D	579;549	ENSP00000251871:A579D	ENSP00000251871:A579D	A	+	2	0	MED17	93182682	1.000000	0.71417	0.995000	0.50966	0.226000	0.24999	7.704000	0.84595	2.894000	0.99253	0.655000	0.94253	GCT		0.408	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268	
KRT18	3875	broad.mit.edu	37	12	53345364	53345364	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:53345364C>T	ENST00000388835.3	+	4	967	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	KRT8_ENST00000552551.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT8_ENST00000549198.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_Missense_Mutation_p.R253W|KRT18_ENST00000388837.2_Missense_Mutation_p.R253W	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	253	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GGCAGACATCCGGGCCCAATA	0.582																																						uc001sbe.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(757-759)Cgg>Tgg		Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.							46.0	51.0	49.0					12																	53345364		2203	4300	6503	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53345364C>T		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.757C>T	12.37:g.53345364C>T	ENSP00000373487:p.Arg253Trp					KRT18_uc009zmn.2_Missense_Mutation_p.R253W|KRT18_uc001sbg.3_Missense_Mutation_p.R253W|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	p.R253W	NM_199187	NP_954657	P05783	K1C18_HUMAN			4	826	+			253			Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.757C>T	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	c	11.16	1.557803	0.27827	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.93488	-3.23;-3.23;-3.23	3.59	2.66	0.31614	Filament (1);	0.000000	0.48767	D	0.000162	D	0.90273	0.6958	L	0.59912	1.85	0.53688	D	0.999972	B;B	0.14012	0.001;0.009	B;B	0.08055	0.0;0.003	D	0.87634	0.2518	10	0.72032	D	0.01	.	10.3095	0.43699	0.1988:0.8012:0.0:0.0	.	253;253	F8VZY9;P05783	.;K1C18_HUMAN	W	253	ENSP00000373489:R253W;ENSP00000447278:R253W;ENSP00000373487:R253W	ENSP00000373487:R253W	R	+	1	2	KRT18	51631631	0.407000	0.25352	1.000000	0.80357	0.720000	0.41350	0.538000	0.23160	1.051000	0.40369	0.491000	0.48974	CGG		0.582	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187	
CCER1	196477	broad.mit.edu	37	12	91347528	91347528	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:91347528C>G	ENST00000358859.2	-	1	1425	c.992G>C	c.(991-993)gGa>gCa	p.G331A	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	331	Glu-rich.																ctcctcctctccctcctccac	0.547																																						uc001tbj.3																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(991-993)gGa>gCa		Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.							171.0	142.0	152.0					12																	91347528		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347528C>G	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.992G>C	12.37:g.91347528C>G	ENSP00000351727:p.Gly331Ala						p.G331A	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			0	1426	-			331			Glu-rich.		Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.992G>C	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	0.974	-0.699155	0.03279	.	.	ENSG00000197651	ENST00000358859	T	0.20738	2.05	5.04	-8.99	0.00751	.	1.145780	0.06887	N	0.803519	T	0.08935	0.0221	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.30679	-0.9970	10	0.48119	T	0.1	-0.3888	1.461	0.02395	0.1825:0.1345:0.3073:0.3758	.	331	Q8TC90	CL012_HUMAN	A	331	ENSP00000351727:G331A	ENSP00000351727:G331A	G	-	2	0	C12orf12	89871659	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.849000	0.01672	-1.919000	0.01071	-0.700000	0.03674	GGA		0.547	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638	
FOXN4	121643	broad.mit.edu	37	12	109719317	109719317	+	Missense_Mutation	SNP	G	G	T	rs374757575		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:109719317G>T	ENST00000299162.5	-	9	1293	c.1189C>A	c.(1189-1191)Cac>Aac	p.H397N	FOXN4_ENST00000355216.1_Missense_Mutation_p.H217N	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	397					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						ATGGCGGGGTGGGGGAGCGGG	0.647																																						uc001toe.4																			0				large_intestine(5)|lung(9)|ovary(2)	16						c.(1189-1191)Cac>Aac		Homo sapiens forkhead box N4 (FOXN4), mRNA.							40.0	37.0	38.0					12																	109719317		2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109719317G>T	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1189C>A	12.37:g.109719317G>T	ENSP00000299162:p.His397Asn					FOXN4_uc009zvg.3_Missense_Mutation_p.H194N|FOXN4_uc001tof.4_Missense_Mutation_p.H217N	p.H397N	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN			8	1294	-			397					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.1189C>A	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	G	5.285	0.238057	0.10023	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.94828	-3.53;-3.13	4.49	1.65	0.23941	.	0.796274	0.11827	N	0.525639	D	0.89701	0.6791	L	0.36672	1.1	0.30943	N	0.725577	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.81933	-0.0706	10	0.29301	T	0.29	-6.5509	9.9622	0.41704	0.0:0.1348:0.5853:0.2799	.	397;397	A6H901;Q96NZ1	.;FOXN4_HUMAN	N	217;397	ENSP00000347354:H217N;ENSP00000299162:H397N	ENSP00000299162:H397N	H	-	1	0	FOXN4	108203700	1.000000	0.71417	0.025000	0.17156	0.018000	0.09664	5.118000	0.64673	0.251000	0.21505	-1.085000	0.02201	CAC		0.647	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735	
HVCN1	84329	broad.mit.edu	37	12	111099035	111099035	+	Silent	SNP	G	G	A	rs138491014		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:111099035G>A	ENST00000356742.5	-	3	993	c.240C>T	c.(238-240)ccC>ccT	p.P80P	HVCN1_ENST00000242607.8_Silent_p.P80P|HVCN1_ENST00000439744.2_Silent_p.P60P|HVCN1_ENST00000548312.1_Silent_p.P80P			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	80					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CCCTGGGTGCGGGGCCAGGGG	0.642																																						uc001trs.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(238-240)ccC>ccT		Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.		G	,	2,4404	4.2+/-10.8	0,2,2201	43.0	51.0	48.0		240,240	-8.0	0.0	12	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HVCN1	NM_001040107.1,NM_032369.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	80/274,80/274	111099035	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099035G>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.240C>T	12.37:g.111099035G>A						HVCN1_uc001trq.1_Silent_p.P80P|HVCN1_uc001trt.1_Silent_p.P80P|HVCN1_uc010syd.1_Silent_p.P60P	p.P80P	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN			3	405	-			80					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.240C>T	CCDS31900.1																																																																																				0.642	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369	
KNTC1	9735	broad.mit.edu	37	12	123097664	123097664	+	Silent	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:123097664A>G	ENST00000333479.7	+	54	5805	c.5628A>G	c.(5626-5628)ttA>ttG	p.L1876L	KNTC1_ENST00000537348.1_Silent_p.L301L|KNTC1_ENST00000450485.2_Silent_p.L801L|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1876					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCAGACATTAGGTATGCATC	0.373																																						uc001ucv.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(5626-5628)ttA>ttG		Homo sapiens kinetochore associated 1 (KNTC1), mRNA.							179.0	168.0	171.0					12																	123097664		1836	4090	5926	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123097664A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5628A>G	12.37:g.123097664A>G						KNTC1_uc010taf.2_Silent_p.L801L	p.L1876L	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	53	5791	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1876					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.5628A>G	CCDS45002.1																																																																																				0.373	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
TEX30	93081	broad.mit.edu	37	13	103418858	103418858	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr13:103418858A>G	ENST00000376032.4	-	6	766	c.577T>C	c.(577-579)Tcc>Ccc	p.S193P	TEX30_ENST00000376029.3_3'UTR|TEX30_ENST00000376019.1_Missense_Mutation_p.S152P|TEX30_ENST00000376021.4_Missense_Mutation_p.S152P|TEX30_ENST00000487260.1_5'Flank|TEX30_ENST00000376022.1_3'UTR|TEX30_ENST00000376027.1_3'UTR	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	193										lung(1)|urinary_tract(1)	2						ACTGCCATGGAATGATTTGCC	0.368																																						uc001vpo.3																			0				lung(1)|urinary_tract(1)	2						c.(577-579)Tcc>Ccc		Homo sapiens chromosome 13 open reading frame 27 (C13orf27), mRNA.							96.0	89.0	92.0					13																	103418858		2203	4300	6503	SO:0001583	missense	93081							g.chr13:103418858A>G	AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 27"""	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.577T>C	13.37:g.103418858A>G	ENSP00000365200:p.Ser193Pro					TEX30_uc001vpn.3_Missense_Mutation_p.S152P	p.S193P	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN			5	755	-			193					Q5JUR8|Q96KZ8	Missense_Mutation	SNP	ENST00000376032.4	37	c.577T>C	CCDS9503.2	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242864	0.58995	.	.	ENSG00000151287	ENST00000376019;ENST00000376021;ENST00000376032	T;T;T	0.25250	1.81;1.81;1.81	6.17	3.6	0.41247	.	0.143677	0.64402	D	0.000009	T	0.33059	0.0850	L	0.57536	1.79	0.80722	D	1	D	0.56287	0.975	P	0.51974	0.686	T	0.04840	-1.0923	10	0.46703	T	0.11	-9.7072	8.5228	0.33287	0.4424:0.4453:0.0:0.1122	.	193	Q5JUR7	CM027_HUMAN	P	152;152;193	ENSP00000365187:S152P;ENSP00000365189:S152P;ENSP00000365200:S193P	ENSP00000365187:S152P	S	-	1	0	C13orf27	102216859	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.501000	0.53325	1.130000	0.42092	0.533000	0.62120	TCC		0.368	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045691.4	NM_138779	
GTF3C1	2975	broad.mit.edu	37	16	27499713	27499713	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr16:27499713C>G	ENST00000356183.4	-	23	3550	c.3535G>C	c.(3535-3537)Ggg>Cgg	p.G1179R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G1179R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1179					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTTGCTTCCCCCCAAATATTC	0.552																																						uc002dov.2																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(3535-3537)Ggg>Cgg		Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.							120.0	123.0	122.0					16																	27499713		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27499713C>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3535G>C	16.37:g.27499713C>G	ENSP00000348510:p.Gly1179Arg					GTF3C1_uc002dou.3_Missense_Mutation_p.G1179R	p.G1179R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			22	3575	-			1179					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.3535G>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855091	0.71719	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24538	1.85	4.9	3.92	0.45320	.	0.576538	0.16986	N	0.191486	T	0.46308	0.1386	M	0.69823	2.125	0.32498	N	0.539294	D;D	0.63880	0.969;0.993	P;P	0.61800	0.695;0.894	T	0.59434	-0.7455	10	0.56958	D	0.05	-9.961	13.0191	0.58775	0.1682:0.8318:0.0:0.0	.	1179;1179	Q12789;Q12789-3	TF3C1_HUMAN;.	R	1179;1175	ENSP00000348510:G1179R	ENSP00000348510:G1179R	G	-	1	0	GTF3C1	27407214	1.000000	0.71417	0.932000	0.37286	0.831000	0.47069	3.729000	0.54999	1.000000	0.39049	0.561000	0.74099	GGG		0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
RPAIN	84268	broad.mit.edu	37	17	5329307	5329307	+	Missense_Mutation	SNP	C	C	A	rs142664022	byFrequency	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr17:5329307C>A	ENST00000381209.3	+	4	900	c.330C>A	c.(328-330)agC>agA	p.S110R	RPAIN_ENST00000405578.4_Missense_Mutation_p.S110R|RPAIN_ENST00000327154.6_Missense_Mutation_p.S110R|RPAIN_ENST00000381208.5_Missense_Mutation_p.S110R|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000574003.1_Intron|RPAIN_ENST00000536255.2_Intron	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	110					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CCATCATCAGCGAGTATGAGA	0.478																																						uc002gbp.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6								Homo sapiens RPA interacting protein (RPAIN), transcript variant 8, non-coding RNA.							71.0	58.0	62.0					17																	5329307		2203	4300	6503	SO:0001583	missense	84268				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding	g.chr17:5329307C>A	AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000381209.3:c.330C>A	17.37:g.5329307C>A	ENSP00000370606:p.Ser110Arg					RPAIN_uc010vsz.1_Missense_Mutation_p.S110R|RPAIN_uc010vta.1_Intron|RPAIN_uc002gbq.2_Missense_Mutation_p.S110R|RPAIN_uc010vtb.1_Missense_Mutation_p.S110R|RPAIN_uc002gbs.2_Intron|RPAIN_uc002gbt.2_Missense_Mutation_p.S110R|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_Non-coding_Transcript|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank				Q86UA6	RIP_HUMAN					+								B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	Missense_Mutation	SNP	ENST00000381209.3	37		CCDS32536.1	.	.	.	.	.	.	.	.	.	.	C	8.398	0.841264	0.16891	.	.	ENSG00000129197	ENST00000381209;ENST00000381208;ENST00000539417;ENST00000405578;ENST00000327154	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.41	-9.74	0.00509	.	0.796012	0.12679	N	0.448178	T	0.18635	0.0447	L	0.31294	0.92	0.58432	D	0.999999	B;B;B;B	0.12630	0.0;0.006;0.003;0.003	B;B;B;B	0.12837	0.003;0.008;0.008;0.008	T	0.07539	-1.0767	10	0.20519	T	0.43	-2.052	4.4817	0.11771	0.0749:0.2382:0.3662:0.3208	.	110;110;110;110	F5GYE1;E9PES3;E9PDG9;Q86UA6	.;.;.;RIP_HUMAN	R	110	ENSP00000370606:S110R;ENSP00000370605:S110R;ENSP00000446453:S110R;ENSP00000385814:S110R;ENSP00000315069:S110R	ENSP00000315069:S110R	S	+	3	2	RPAIN	5270031	0.017000	0.18338	0.135000	0.22099	0.622000	0.37654	-0.890000	0.04140	-1.416000	0.02019	-0.251000	0.11542	AGC		0.478	RPAIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439373.1	NM_001033002	
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr17:7579699C>T	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	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						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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)	CTTGTCCTTACCAGAACGTTG	0.597		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"""		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)	liver(8)|bone(4)|central_nervous_system(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|skin(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						c.e3+1	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							41.0	42.0	42.0					17																	7579699		2202	4298	6500	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579699C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.96+1G>A	17.37:g.7579699C>T		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_Splice_Site_p.L32_splice|TP53_uc002gih.3_Splice_Site_p.L32_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.L32_splice|TP53_uc010cnh.1_Splice_Site_p.L32_splice|TP53_uc002gij.2_Splice_Site_p.L32_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Splice_Site_p.L32_splice|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.L47_splice	p.L32_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	290	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	32			Interaction with HRMT1L2.|Transcription activation (acidic).		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	Splice_Site	SNP	ENST00000269305.4	37	c.96_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357778	0.82243	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6079	0.51043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520424	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.928000	0.40104	2.466000	0.83321	0.561000	0.74099	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
MBD3	53615	broad.mit.edu	37	19	1578435	1578435	+	Silent	SNP	C	C	T	rs150880184		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:1578435C>T	ENST00000434436.3	-	6	909	c.780G>A	c.(778-780)gcG>gcA	p.A260A	MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000590550.2_Silent_p.A204A|UQCR11_ENST00000585937.1_3'UTR|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000156825.1_Silent_p.A260A|MBD3_ENST00000592012.1_Silent_p.A228A	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	260					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCCAGCGGCGCCTCCCCGT	0.692																																						uc002ltj.3																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(778-780)gcG>gcA		Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.		C		1,4403	2.1+/-5.4	0,1,2201	46.0	45.0	45.0		780	-8.6	0.0	19	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	MBD3	NM_003926.5		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		260/292	1578435	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578435C>T	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.780G>A	19.37:g.1578435C>T						AX747577_uc002lti.1_5'Flank|MBD3_uc002ltk.3_Silent_p.A228A|MBD3_uc002ltl.1_Silent_p.A260A	p.A260A	NM_003926	NP_003917	O95983	MBD3_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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	802	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	260					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	ENST00000434436.3	37	c.780G>A	CCDS12072.1																																																																																				0.692	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926	
NOTCH3	4854	broad.mit.edu	37	19	15280951	15280951	+	Silent	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:15280951C>T	ENST00000263388.2	-	28	5220	c.5145G>A	c.(5143-5145)ggG>ggA	p.G1715G		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1715					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCCACCTCCCCCATCAGGC	0.627																																						uc002nan.3																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5143-5145)ggG>ggA		Homo sapiens notch 3 (NOTCH3), mRNA.							43.0	31.0	35.0					19																	15280951		2203	4300	6503	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15280951C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5145G>A	19.37:g.15280951C>T							p.G1715G	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		27	5221	-			1715					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.5145G>A	CCDS12326.1																																																																																				0.627	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
FKBP8	23770	broad.mit.edu	37	19	18648452	18648452	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:18648452G>A	ENST00000596558.2	-	6	1010	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	FKBP8_ENST00000597960.3_Missense_Mutation_p.H302Y|FKBP8_ENST00000608443.1_Missense_Mutation_p.H302Y|FKBP8_ENST00000610101.1_Missense_Mutation_p.H142Y|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000453489.2_Missense_Mutation_p.H330Y|FKBP8_ENST00000222308.4_Missense_Mutation_p.H301Y			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	301					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.H302Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TCTGGCTGGTGCTCCAGCACA	0.642																																						uc002njk.1																			1	Substitution - Missense(1)	p.H302Y(1)|p.E301D(1)	breast(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(901-903)Cac>Tac		Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.							62.0	50.0	54.0					19																	18648452		2203	4300	6503	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18648452G>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.901C>T	19.37:g.18648452G>A	ENSP00000472302:p.His301Tyr					FKBP8_uc010xqi.1_Missense_Mutation_p.H330Y|FKBP8_uc002njj.1_Missense_Mutation_p.H302Y|FKBP8_uc021uqp.1_Missense_Mutation_p.H142Y	p.H301Y	NM_012181	NP_036313	Q14318	FKBP8_HUMAN			5	1014	-			301					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.901C>T		.	.	.	.	.	.	.	.	.	.	G	6.669	0.492046	0.12702	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.73575	-0.76;-0.76;-0.76	4.67	4.67	0.58626	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.109084	0.64402	D	0.000006	T	0.75258	0.3825	L	0.39898	1.24	0.80722	D	1	D;B;B;P	0.65815	0.995;0.004;0.012;0.898	P;B;B;B	0.60236	0.871;0.044;0.009;0.253	T	0.69803	-0.5046	10	0.02654	T	1	-27.6279	16.792	0.85591	0.0:0.0:1.0:0.0	.	330;245;301;302	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	Y	302;142;330	ENSP00000222308:H302Y;ENSP00000441267:H142Y;ENSP00000388891:H330Y	ENSP00000222308:H302Y	H	-	1	0	FKBP8	18509452	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.144000	0.77357	2.439000	0.82584	0.644000	0.83932	CAC		0.642	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181	
NFKBIB	4793	broad.mit.edu	37	19	39398200	39398200	+	Silent	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:39398200C>T	ENST00000313582.5	+	5	904	c.870C>T	c.(868-870)gcC>gcT	p.A290A	NFKBIB_ENST00000572515.1_Silent_p.A290A|NFKBIB_ENST00000392079.3_Silent_p.A258A	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	290					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCATCCTCGCCCGCCTCCTCC	0.706																																					Pancreas(165;1492 2005 6979 7739 34483)	uc002ojw.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(868-870)gcC>gcT		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA.							20.0	22.0	21.0					19																	39398200		2192	4278	6470	SO:0001819	synonymous_variant	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39398200C>T	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.870C>T	19.37:g.39398200C>T						NFKBIB_uc010egk.2_Silent_p.A204A|NFKBIB_uc002ojx.3_Silent_p.A258A|NFKBIB_uc002ojy.3_Silent_p.A290A	p.A290A	NM_002503	NP_001230045	Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		4	973	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		290					A8K3F4|Q96BJ7	Silent	SNP	ENST00000313582.5	37	c.870C>T	CCDS12524.1																																																																																				0.706	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503	
AXL	558	broad.mit.edu	37	19	41744401	41744401	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:41744401A>G	ENST00000301178.4	+	8	1211	c.1021A>G	c.(1021-1023)Agt>Ggt	p.S341G	AXL_ENST00000593513.1_Missense_Mutation_p.S73G|AXL_ENST00000359092.3_Missense_Mutation_p.S341G	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	341	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGAGAACATTAGTGCTACGCG	0.657																																						uc010ehj.3																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1021-1023)Agt>Ggt		Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.							36.0	38.0	37.0					19																	41744401		2203	4299	6502	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41744401A>G	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1021A>G	19.37:g.41744401A>G	ENSP00000301178:p.Ser341Gly					AXL_uc010ehi.1_Missense_Mutation_p.S341G|AXL_uc010ehk.3_Missense_Mutation_p.S341G	p.S341G	NM_021913	NP_068713	P30530	UFO_HUMAN			7	1211	+			341			Fibronectin type-III 2.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1021A>G	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	a	12.75	2.032658	0.35893	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.59502	0.26;0.26	4.06	3.04	0.35103	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.139441	0.46145	U	0.000320	T	0.56062	0.1960	M	0.66378	2.025	0.26890	N	0.96735	B;B	0.27971	0.163;0.196	B;B	0.36608	0.147;0.229	T	0.54463	-0.8290	10	0.52906	T	0.07	-1.396	7.3595	0.26737	0.8941:0.0:0.1059:0.0	.	341;341	P30530-2;P30530	.;UFO_HUMAN	G	341	ENSP00000301178:S341G;ENSP00000351995:S341G	ENSP00000301178:S341G	S	+	1	0	AXL	46436241	0.999000	0.42202	0.998000	0.56505	0.744000	0.42396	5.445000	0.66594	0.715000	0.32103	0.247000	0.18012	AGT		0.657	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2		
RRM2	6241	broad.mit.edu	37	2	10264898	10264898	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:10264898T>C	ENST00000304567.5	+	5	559	c.490T>C	c.(490-492)Ttc>Ctc	p.F164L	RRM2_ENST00000360566.2_Missense_Mutation_p.F224L	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	164					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	TTTCTATGGCTTCCAAATTGC	0.383																																						uc021vdr.1																			0		p.R224H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19						c.(670-672)Ttc>Ctc		Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA.							79.0	81.0	80.0					2																	10264898		2203	4300	6503	SO:0001583	missense	6241				deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr2:10264898T>C		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.490T>C	2.37:g.10264898T>C	ENSP00000302955:p.Phe164Leu						p.F224L	NM_001034	NP_001159403	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	4	721	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		164					B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	c.670T>C	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193470	0.78902	.	.	ENSG00000171848	ENST00000360566;ENST00000304567;ENST00000474701	D;D;D	0.97430	-4.38;-4.38;-4.29	4.95	4.95	0.65309	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.043421	0.85682	D	0.000000	D	0.97945	0.9324	H	0.96365	3.81	0.80722	D	1	B	0.32188	0.359	B	0.37346	0.247	D	0.98922	1.0784	10	0.87932	D	0	-13.071	14.627	0.68629	0.0:0.0:0.0:1.0	.	164	P31350	RIR2_HUMAN	L	224;164;114	ENSP00000353770:F224L;ENSP00000302955:F164L;ENSP00000419177:F114L	ENSP00000302955:F164L	F	+	1	0	RRM2	10182349	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.951000	0.87819	1.856000	0.53863	0.379000	0.24179	TTC		0.383	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2		
POLR1A	25885	broad.mit.edu	37	2	86272410	86272410	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:86272410T>C	ENST00000263857.6	-	21	3338	c.2960A>G	c.(2959-2961)tAt>tGt	p.Y987C	POLR1A_ENST00000409681.1_Missense_Mutation_p.Y987C			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	987					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTTTGGAGATAGCCTGAGCG	0.522																																						uc002sqs.3																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2959-2961)tAt>tGt		Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.							73.0	79.0	77.0					2																	86272410		1920	4125	6045	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86272410T>C	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2960A>G	2.37:g.86272410T>C	ENSP00000263857:p.Tyr987Cys					POLR1A_uc010ytb.2_Missense_Mutation_p.Y353C|POLR1A_uc002sqt.1_5'Flank	p.Y987C	NM_015425	NP_056240	O95602	RPA1_HUMAN			20	3339	-			987					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.2960A>G	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.706390	0.48412	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.93076	-3.16;-3.16	5.75	5.75	0.90469	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99525	1.0959	10	0.87932	D	0	-18.4544	16.0545	0.80788	0.0:0.0:0.0:1.0	.	987	O95602	RPA1_HUMAN	C	987	ENSP00000263857:Y987C;ENSP00000386300:Y987C	ENSP00000263857:Y987C	Y	-	2	0	POLR1A	86125921	1.000000	0.71417	0.998000	0.56505	0.347000	0.29111	7.691000	0.84191	2.195000	0.70347	0.533000	0.62120	TAT		0.522	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425	
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						uc002svy.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)gagdel		Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_uc002svx.3_In_Frame_Del_p.E147del|ITPRIPL1_uc010yuk.2_In_Frame_Del_p.E139del|ITPRIPL1_uc010yul.2_In_Frame_Del_p.E139del	p.E155del	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN			0	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495	
GLI2	2736	broad.mit.edu	37	2	121744096	121744096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:121744096delG	ENST00000452319.1	+	13	2259	c.2199delG	c.(2197-2199)aagfs	p.K734fs	GLI2_ENST00000314490.11_Frame_Shift_Del_p.K406fs|GLI2_ENST00000361492.4_Frame_Shift_Del_p.K734fs					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCAGCTCAAGAAGGAGAAGC	0.647																																						uc010flp.3																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2197-2199)aagfs		Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.							82.0	76.0	78.0					2																	121744096		2203	4300	6503	SO:0001589	frameshift_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121744096delG		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2199delG	2.37:g.121744096delG	ENSP00000390436:p.Lys734fs					GLI2_uc002tmq.1_Frame_Shift_Del_p.K405fs|GLI2_uc002tmr.1_Frame_Shift_Del_p.K388fs|GLI2_uc002tmt.4_Frame_Shift_Del_p.K405fs|GLI2_uc002tmu.4_Frame_Shift_Del_p.K388fs|GLI2_uc002tmw.1_Frame_Shift_Del_p.K716fs	p.K733fs	NM_005270	NP_005261	P10070	GLI2_HUMAN			11	2229	+	Renal(3;0.0496)	Prostate(154;0.0623)	733						Frame_Shift_Del	DEL	ENST00000452319.1	37	c.2199delG	CCDS33283.1																																																																																				0.647	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
TTN	7273	broad.mit.edu	37	2	179438951	179438951	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:179438951G>A	ENST00000591111.1	-	276	67209	c.66985C>T	c.(66985-66987)Cgg>Tgg	p.R22329W	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R23970W|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15030W|TTN_ENST00000460472.2_Missense_Mutation_p.R14905W|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15097W|TTN_ENST00000342992.6_Missense_Mutation_p.R21402W|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22329	Fibronectin type-III 62. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCCACCGTCCATTAGGA	0.413																																						uc021vsy.1																			0		p.R21402C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(64204-64206)Cgg>Tgg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							64.0	61.0	62.0					2																	179438951		1887	4113	6000	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438951G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66985C>T	2.37:g.179438951G>A	ENSP00000465570:p.Arg22329Trp					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15097W|TTN_uc021vta.1_Missense_Mutation_p.R15030W|TTN_uc021vtb.1_Missense_Mutation_p.R14905W	p.R21402W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	64429	-			22329			Fibronectin type-III 55.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.64204C>T		.	.	.	.	.	.	.	.	.	.	G	10.41	1.343879	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.66	1.67	0.24075	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77698	0.4169	M	0.92507	3.315	0.58432	D	0.999998	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	T	0.82699	-0.0328	9	0.87932	D	0	.	15.5028	0.75713	0.0:0.0:0.5284:0.4716	.	14905;15030;15097;22329	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	21402;14905;15097;15030;14903	ENSP00000343764:R21402W;ENSP00000434586:R14905W;ENSP00000340554:R15097W;ENSP00000352154:R15030W	ENSP00000340554:R15097W	R	-	1	2	TTN	179147197	1.000000	0.71417	0.979000	0.43373	0.952000	0.60782	5.712000	0.68407	0.025000	0.15241	-0.320000	0.08662	CGG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179466465	179466465	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:179466465C>A	ENST00000591111.1	-	236	50653	c.50429G>T	c.(50428-50430)cGa>cTa	p.R16810L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18451L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9511L|TTN_ENST00000460472.2_Missense_Mutation_p.R9386L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9578L|TTN_ENST00000342992.6_Missense_Mutation_p.R15883L|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16810	Ig-like 101.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATGAGATCGTTTACACTC	0.363																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(47647-47649)cGa>cTa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							133.0	120.0	124.0					2																	179466465		1849	4089	5938	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466465C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50429G>T	2.37:g.179466465C>A	ENSP00000465570:p.Arg16810Leu					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9578L|TTN_uc021vta.1_Missense_Mutation_p.R9511L|TTN_uc021vtb.1_Missense_Mutation_p.R9386L	p.R15883L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		234	47873	-			16810			Fibronectin type-III 15.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.47648G>T		.	.	.	.	.	.	.	.	.	.	C	15.88	2.963075	0.53507	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61553	0.2356	L	0.45698	1.435	0.53005	D	0.999968	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.61426	-0.7065	9	0.87932	D	0	.	20.1236	0.97970	0.0:1.0:0.0:0.0	.	9386;9511;9578;16810	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	15883;9386;9578;9511;9386	ENSP00000343764:R15883L;ENSP00000434586:R9386L;ENSP00000340554:R9578L;ENSP00000352154:R9511L	ENSP00000340554:R9578L	R	-	2	0	TTN	179174710	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	5.664000	0.68045	2.746000	0.94184	0.563000	0.77884	CGA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DNAH7	56171	broad.mit.edu	37	2	196825609	196825609	+	Missense_Mutation	SNP	G	G	A	rs534363346		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:196825609G>A	ENST00000312428.6	-	18	2366	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	756	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTTTTTACGTTGAGGATAT	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		18914	0.0		0.0	False		,,,				2504	0.001					uc002utj.4																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(2266-2268)Cgt>Tgt		Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.							83.0	76.0	78.0					2																	196825609		1848	4087	5935	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825609G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2266C>T	2.37:g.196825609G>A	ENSP00000311273:p.Arg756Cys						p.R756C	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			17	2367	-			756			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2266C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047429	0.75846	.	.	ENSG00000118997	ENST00000312428	T	0.60797	0.16	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.059579	0.64402	D	0.000002	T	0.80914	0.4715	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83377	0.0010	10	0.87932	D	0	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	756	Q8WXX0	DYH7_HUMAN	C	756	ENSP00000311273:R756C	ENSP00000311273:R756C	R	-	1	0	DNAH7	196533854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.618000	0.61211	2.708000	0.92522	0.650000	0.86243	CGT		0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
C20orf85	128602	broad.mit.edu	37	20	56728664	56728664	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr20:56728664A>T	ENST00000371168.3	+	2	194	c.133A>T	c.(133-135)Aca>Tca	p.T45S		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	45										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GGGGTTTTTAACAACCCCTTT	0.433																																						uc002xyv.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13						c.(133-135)Aca>Tca		Homo sapiens chromosome 20 open reading frame 85 (C20orf85), mRNA.							64.0	68.0	67.0					20																	56728664		2203	4300	6503	SO:0001583	missense	128602							g.chr20:56728664A>T	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.133A>T	20.37:g.56728664A>T	ENSP00000360210:p.Thr45Ser						p.T45S	NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		1	171	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		45						Missense_Mutation	SNP	ENST00000371168.3	37	c.133A>T	CCDS13465.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.595841	0.28445	.	.	ENSG00000124237	ENST00000371168	T	0.22134	1.97	5.82	0.5	0.16919	.	0.315972	0.30109	N	0.010383	T	0.13543	0.0328	L	0.43701	1.375	0.09310	N	0.999997	B	0.10296	0.003	B	0.12156	0.007	T	0.20371	-1.0277	10	0.30854	T	0.27	-0.9156	3.5295	0.07771	0.4391:0.0:0.1733:0.3877	.	45	Q9H1P6	CT085_HUMAN	S	45	ENSP00000360210:T45S	ENSP00000360210:T45S	T	+	1	0	C20orf85	56162070	0.492000	0.26027	0.429000	0.26710	0.996000	0.88848	0.367000	0.20382	-0.186000	0.10533	0.533000	0.62120	ACA		0.433	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456	
TMPRSS15	5651	broad.mit.edu	37	21	19713765	19713765	+	Missense_Mutation	SNP	G	G	C	rs202066879	byFrequency	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr21:19713765G>C	ENST00000284885.3	-	13	1562	c.1529C>G	c.(1528-1530)cCa>cGa	p.P510R		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	510						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACCAAAGTTGGTTCTGGATA	0.398																																						uc002ykw.3																			0		p.E509*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(1528-1530)cCa>cGa		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							159.0	152.0	154.0					21																	19713765		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19713765G>C		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1529C>G	21.37:g.19713765G>C	ENSP00000284885:p.Pro510Arg						p.P510R	NM_002772	NP_002763	P98073	ENTK_HUMAN			12	1560	-			510					Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.1529C>G	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925664	0.73213	.	.	ENSG00000154646	ENST00000284885	D	0.87809	-2.3	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.93151	0.7819	M	0.75264	2.295	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	D	0.92871	0.6314	9	.	.	.	.	17.8836	0.88848	0.0:0.0:1.0:0.0	.	510	P98073	ENTK_HUMAN	R	510	ENSP00000284885:P510R	.	P	-	2	0	TMPRSS15	18635636	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.013000	0.76373	2.472000	0.83506	0.484000	0.47621	CCA		0.398	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
RIPK4	54101	broad.mit.edu	37	21	43161460	43161460	+	Silent	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr21:43161460G>A	ENST00000352483.2	-	9	2101	c.2037C>T	c.(2035-2037)aaC>aaT	p.N679N	RIPK4_ENST00000332512.3_Silent_p.N631N|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Silent_p.N568N|RIPK4_ENST00000544709.1_Silent_p.N568N			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	679					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTGCAGACGTTGACGTCGG	0.697																																						uc002yzn.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1891-1893)aaC>aaT		Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.							52.0	55.0	54.0					21																	43161460		2201	4298	6499	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161460G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2037C>T	21.37:g.43161460G>A							p.N631N	NM_020639	NP_065690	Q96T11	Q96T11_HUMAN			7	1941	-			631					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1893C>T		.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041658	0.02013	.	.	ENSG00000183421	ENST00000330470	.	.	.	4.75	-1.13	0.09775	.	.	.	.	.	T	0.67571	0.2907	.	.	.	0.48341	D	0.999633	.	.	.	.	.	.	T	0.66791	-0.5834	5	0.62326	D	0.03	-25.4646	11.0454	0.47855	0.2809:0.0:0.7191:0.0	.	.	.	.	C	368	.	ENSP00000330975:R368C	R	-	1	0	RIPK4	42034529	0.262000	0.24073	0.004000	0.12327	0.071000	0.16799	0.600000	0.24104	-0.550000	0.06183	-1.170000	0.01741	CGT		0.697	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639	
PRAME	23532	broad.mit.edu	37	22	22892481	22892481	+	Missense_Mutation	SNP	C	C	T	rs116965324	byFrequency	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr22:22892481C>T	ENST00000398741.1	-	5	926	c.620G>A	c.(619-621)cGc>cAc	p.R207H	PRAME_ENST00000424204.2_Missense_Mutation_p.R191H|PRAME_ENST00000405655.3_Missense_Mutation_p.R207H|PRAME_ENST00000543184.1_Missense_Mutation_p.R207H|PRAME_ENST00000539862.1_Missense_Mutation_p.R191H|PRAME_ENST00000398743.2_Missense_Mutation_p.R207H|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000402697.1_Missense_Mutation_p.R207H	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	207					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.R207H(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ACAGCACAGGCGTAGTACATT	0.443													C|||	2	0.000399361	0.0	0.0	5008	,	,		20030	0.0		0.002	False		,,,				2504	0.0				Melanoma(73;1707 1838 15168 27201)	uc002zwf.3																			1	Substitution - Missense(1)	p.R207H(2)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(619-621)cGc>cAc		Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.							143.0	140.0	141.0					22																	22892481		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22892481C>T	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.620G>A	22.37:g.22892481C>T	ENSP00000381726:p.Arg207His					abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.R191H|PRAME_uc010gtr.3_Missense_Mutation_p.R207H|PRAME_uc002zwg.3_Missense_Mutation_p.R207H|PRAME_uc002zwh.3_Missense_Mutation_p.R207H|PRAME_uc002zwi.3_Missense_Mutation_p.R207H|PRAME_uc002zwj.3_Missense_Mutation_p.R207H|PRAME_uc002zwk.3_Missense_Mutation_p.R207H	p.R207H	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	3	776	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	207					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.620G>A	CCDS13801.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	.	0.004	-2.275362	0.00257	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63	3.56	0.203	0.15195	.	0.828357	0.10766	N	0.636584	T	0.01835	0.0058	N	0.00059	-2.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43621	-0.9380	10	0.02654	T	1	.	6.1532	0.20322	0.0:0.3452:0.0:0.6548	.	207	P78395	PRAME_HUMAN	H	207;207;207;207;191;207;191	ENSP00000381728:R207H;ENSP00000445675:R207H;ENSP00000381726:R207H;ENSP00000384343:R207H;ENSP00000445097:R191H;ENSP00000385198:R207H;ENSP00000407342:R191H	ENSP00000381726:R207H	R	-	2	0	PRAME	21222481	0.000000	0.05858	0.016000	0.15963	0.034000	0.12701	-1.596000	0.02091	-0.045000	0.13468	-0.285000	0.09966	CGC		0.443	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953	
DEPDC5	9681	broad.mit.edu	37	22	32239092	32239092	+	Nonsense_Mutation	SNP	C	C	T	rs541024038		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr22:32239092C>T	ENST00000382112.3	+	27	2570	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*	DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.R843*|DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.R765*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.R834*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.R765*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.R843*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.R834*|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.R843*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	843					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCTTGTGTCCCGAAACCGCCC	0.433																																						uc011alu.2																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2527-2529)Cga>Tga		Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.							87.0	80.0	82.0					22																	32239092		1949	4144	6093	SO:0001587	stop_gained	9681				intracellular signal transduction			g.chr22:32239092C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2500C>T	22.37:g.32239092C>T	ENSP00000371546:p.Arg834*					DEPDC5_uc011als.2_Nonsense_Mutation_p.R765*|DEPDC5_uc003als.3_Nonsense_Mutation_p.R834*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.R834*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.R283*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R164*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.R132*|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_5'Flank	p.R843*	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN			27	2729	+			834					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	ENST00000382112.3	37	c.2527C>T	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	7.990663|7.990663	0.98599|0.98599	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.154834	.|0.43919	.|D	.|0.000519	T|.	0.34366|.	0.0895|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20338|.	-1.0278|.	4|.	.|0.02654	.|T	.|1	.|.	12.411|12.411	0.55468|0.55468	0.2645:0.7355:0.0:0.0|0.2645:0.7355:0.0:0.0	.|.	.|.	.|.	.|.	L|X	240|765;843;834;765;843;765;834;843;834	.|.	.|ENSP00000266091:R843X	P|R	+|+	2|1	0|2	DEPDC5|DEPDC5	30569092|30569092	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	2.428000|2.428000	0.44749|0.44749	2.693000|2.693000	0.91896|0.91896	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.433	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
SUSD5	26032	broad.mit.edu	37	3	33194586	33194586	+	Missense_Mutation	SNP	G	G	A	rs372702857		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:33194586G>A	ENST00000309558.3	-	5	1955	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	513					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGCCATGATCGTTGAGGGGAT	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21630	0.0		0.0	False		,,,				2504	0.0					uc003cfo.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1537-1539)aCg>aTg		Homo sapiens sushi domain containing 5 (SUSD5), mRNA.		G	MET/THR	3,4107		0,3,2052	171.0	181.0	177.0		1538	2.8	0.0	3		177	0,8410		0,0,4205	no	missense	SUSD5	NM_015551.1	81	0,3,6257	AA,AG,GG		0.0,0.073,0.024	possibly-damaging	513/630	33194586	3,12517	2055	4205	6260	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33194586G>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1538C>T	3.37:g.33194586G>A	ENSP00000308727:p.Thr513Met						p.T513M	NM_015551	NP_056366	O60279	SUSD5_HUMAN			4	1956	-			513						Missense_Mutation	SNP	ENST00000309558.3	37	c.1538C>T	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	G	9.059	0.994069	0.19043	7.3E-4	0.0	ENSG00000173705	ENST00000309558	T	0.08193	3.12	5.56	2.75	0.32379	.	0.843298	0.10411	N	0.677863	T	0.14830	0.0358	L	0.57536	1.79	0.09310	N	1	D	0.76494	0.999	P	0.53689	0.732	T	0.18429	-1.0337	10	0.39692	T	0.17	-6.4031	5.0228	0.14370	0.0719:0.3327:0.4103:0.1852	.	513	O60279	SUSD5_HUMAN	M	513	ENSP00000308727:T513M	ENSP00000308727:T513M	T	-	2	0	SUSD5	33169590	0.067000	0.21026	0.015000	0.15790	0.253000	0.25986	1.843000	0.39259	0.280000	0.22209	-0.133000	0.14855	ACG		0.522	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054	
STAB1	23166	broad.mit.edu	37	3	52551109	52551109	+	Silent	SNP	C	C	T	rs373996604		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:52551109C>T	ENST00000321725.6	+	42	4549	c.4473C>T	c.(4471-4473)gaC>gaT	p.D1491D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1491	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACATGGGCGACGGGGAGCTGT	0.622																																						uc003dej.3																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4471-4473)gaC>gaT		Homo sapiens stabilin 1 (STAB1), mRNA.		C		0,4402		0,0,2201	38.0	41.0	40.0		4473	-7.5	0.1	3		40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	STAB1	NM_015136.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		1491/2571	52551109	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52551109C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4473C>T	3.37:g.52551109C>T						STAB1_uc003dek.1_5'Flank	p.D1491D	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	41	4547	+			1491			EGF-like 11.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.4473C>T	CCDS33768.1																																																																																				0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
TMEM14E	645843	broad.mit.edu	37	3	152058532	152058532	+	Silent	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:152058532A>G	ENST00000408960.3	-	1	247	c.162T>C	c.(160-162)tcT>tcC	p.S54S	MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000282488.7_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	54						integral component of membrane (GO:0016021)				lung(1)	1						GTGATGGCTGAGAAGCATCCA	0.453																																						uc010hvo.3																			0				lung(1)	1						c.(160-162)tcT>tcC		Homo sapiens transmembrane protein 14E (TMEM14E), mRNA.							90.0	81.0	84.0					3																	152058532		1568	3582	5150	SO:0001819	synonymous_variant	645843					integral to membrane		g.chr3:152058532A>G		CCDS43161.1	3q25.1	2011-09-15			ENSG00000221962	ENSG00000221962			34386	protein-coding gene	gene with protein product							Standard	NM_001123228		Approved		uc010hvo.3	Q6UXP3	OTTHUMG00000159652	ENST00000408960.3:c.162T>C	3.37:g.152058532A>G						MBNL1_uc003ezh.3_Intron|MBNL1_uc003ezi.3_Intron|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezm.3_Intron|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Intron|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron	p.S54S	NM_001123228	NP_001116700	Q6UXP3	TM14E_HUMAN			0	248	-			54						Silent	SNP	ENST00000408960.3	37	c.162T>C	CCDS43161.1																																																																																				0.453	TMEM14E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356703.1	NM_001123228	
PDE6B	5158	broad.mit.edu	37	4	619881	619881	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:619881G>A	ENST00000496514.1	+	1	487	c.466G>A	c.(466-468)Gag>Aag	p.E156K	PDE6B_ENST00000255622.6_Missense_Mutation_p.E156K			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	156	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GGACGTGGCCGAGGTGGGTCT	0.642																																					GBM(71;463 1194 9848 25922 46834)	uc003gap.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(466-468)Gag>Aag		Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.							15.0	11.0	12.0					4																	619881		2183	4287	6470	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:619881G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.466G>A	4.37:g.619881G>A	ENSP00000420295:p.Glu156Lys					PDE6B_uc003gao.4_Missense_Mutation_p.E156K	p.E156K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN			0	519	+			156			GAF 1.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.466G>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	0.951	-0.706302	0.03230	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.67698	-0.28;-0.28	4.88	3.05	0.35203	GAF (2);	0.174072	0.49305	D	0.000153	T	0.51702	0.1690	L	0.35723	1.085	0.80722	D	1	B;B	0.23854	0.092;0.075	B;B	0.27380	0.079;0.079	T	0.40346	-0.9568	10	0.05436	T	0.98	.	12.6751	0.56889	0.0:0.3175:0.6825:0.0	.	156;156	P35913;P35913-2	PDE6B_HUMAN;.	K	156	ENSP00000255622:E156K;ENSP00000420295:E156K	ENSP00000255622:E156K	E	+	1	0	PDE6B	609881	0.439000	0.25610	0.465000	0.27155	0.201000	0.24016	0.623000	0.24447	0.425000	0.26087	0.561000	0.74099	GAG		0.642	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283	
HS3ST1	9957	broad.mit.edu	37	4	11401266	11401266	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:11401266C>T	ENST00000002596.5	-	2	1538	c.364G>A	c.(364-366)Gcg>Acg	p.A122T		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	122					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GTGAAATACGCGGGGGTCTTC	0.612																																						uc003gmq.3																			0		p.P121L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(364-366)Gcg>Acg		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.							69.0	69.0	69.0					4																	11401266		2203	4300	6503	SO:0001583	missense	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401266C>T	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.364G>A	4.37:g.11401266C>T	ENSP00000002596:p.Ala122Thr					HS3ST1_uc021xmg.1_Missense_Mutation_p.A122T	p.A122T	NM_005114	NP_005105	O14792	HS3S1_HUMAN			1	687	-			122					B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	37	c.364G>A	CCDS3408.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148097	0.94603	.	.	ENSG00000002587	ENST00000002596	D	0.81908	-1.55	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.110120	0.64402	D	0.000010	D	0.84745	0.5540	L	0.27944	0.81	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.78841	-0.2045	10	0.10636	T	0.68	.	18.9896	0.92786	0.0:1.0:0.0:0.0	.	122	O14792	HS3S1_HUMAN	T	122	ENSP00000002596:A122T	ENSP00000002596:A122T	A	-	1	0	HS3ST1	11010364	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.776000	0.85560	2.793000	0.96121	0.655000	0.94253	GCG		0.612	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114	
UGT2A1	10941	broad.mit.edu	37	4	70455276	70455276	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:70455276C>T	ENST00000503640.1	-	6	1453	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	UGT2A2_ENST00000457664.2_Missense_Mutation_p.M475I|UGT2A1_ENST00000514019.1_Missense_Mutation_p.M632I|UGT2A1_ENST00000512704.1_Missense_Mutation_p.M422I|UGT2A1_ENST00000502343.1_5'Flank|UGT2A1_ENST00000286604.4_Missense_Mutation_p.M466I	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	466					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTTTGTGGCGCATGACAAACT	0.478																																						uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1894-1896)atG>atA		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.							135.0	132.0	133.0					4																	70455276		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70455276C>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1398G>A	4.37:g.70455276C>T	ENSP00000424478:p.Met466Ile					UGT2A1_uc010ihu.3_Missense_Mutation_p.M466I|UGT2A1_uc003hem.4_Missense_Mutation_p.M466I|UGT2A1_uc010ihs.3_Missense_Mutation_p.M475I|UGT2A1_uc021xox.1_Missense_Mutation_p.M431I|UGT2A1_uc010iht.3_Missense_Mutation_p.M422I	p.M632I	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN			6	2012	-			466					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1896G>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608331	0.87258	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	4.65	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.71400	0.3335	L	0.33245	0.995	.	.	.	D;D;D;P;P	0.71674	0.969;0.998;0.959;0.729;0.906	D;D;P;B;P	0.70227	0.968;0.955;0.721;0.269;0.527	T	0.78628	-0.2130	9	0.56958	D	0.05	.	12.7377	0.57234	0.1661:0.8339:0.0:0.0	.	632;632;422;475;466	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	I	475;466;422;632;466	ENSP00000387888:M475I;ENSP00000424478:M466I;ENSP00000421432:M422I;ENSP00000425497:M632I;ENSP00000286604:M466I	ENSP00000286604:M466I	M	-	3	0	UGT2A1	70489865	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.677000	0.61634	1.269000	0.44280	0.579000	0.79373	ATG		0.478	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
ODAM	54959	broad.mit.edu	37	4	71062419	71062419	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:71062419A>T	ENST00000396094.2	+	2	110	c.62A>T	c.(61-63)cAg>cTg	p.Q21L		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	21					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CTTATCCCACAGCGTCTCATG	0.333																																						uc003hfc.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						c.(61-63)cAg>cTg		Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.							67.0	61.0	63.0					4																	71062419		1824	4079	5903	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71062419A>T	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.62A>T	4.37:g.71062419A>T	ENSP00000379401:p.Gln21Leu						p.Q21L	NM_017855	NP_060325	A1E959	ODAM_HUMAN			1	79	+			21					Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.62A>T	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347089	0.41599	.	.	ENSG00000109205	ENST00000396094	T	0.55930	0.49	5.39	4.22	0.49857	.	.	.	.	.	T	0.62319	0.2418	L	0.58101	1.795	0.80722	D	1	D	0.69078	0.997	D	0.63283	0.913	T	0.63629	-0.6594	9	0.72032	D	0.01	-1.8234	7.7062	0.28650	0.9075:0.0:0.0925:0.0	.	21	A1E959	ODAM_HUMAN	L	21	ENSP00000379401:Q21L	ENSP00000379401:Q21L	Q	+	2	0	ODAM	71097008	0.887000	0.30362	0.863000	0.33907	0.190000	0.23558	0.699000	0.25586	1.076000	0.40961	0.528000	0.53228	CAG		0.333	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855	
MAST4	375449	broad.mit.edu	37	5	66084566	66084566	+	Missense_Mutation	SNP	G	G	A	rs369899614		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr5:66084566G>A	ENST00000403625.2	+	3	881	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	MAST4_ENST00000406039.1_Missense_Mutation_p.V196M|MAST4_ENST00000406374.1_Missense_Mutation_p.V196M|MAST4_ENST00000404260.3_Missense_Mutation_p.V196M	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	196						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GTCCAACCTCGTGCGCATGCG	0.657																																						uc021xzk.1																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(586-588)Gtg>Atg		Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.							31.0	32.0	32.0					5																	66084566		1888	4110	5998	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66084566G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.586G>A	5.37:g.66084566G>A	ENSP00000385727:p.Val196Met					MAST4_uc010iwz.3_Missense_Mutation_p.V196M|MAST4_uc003jur.4_Missense_Mutation_p.V196M	p.V196M	NM_001164664	NP_001158136	O15021	MAST4_HUMAN		Lung(70;0.011)	2	894	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	196					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.586G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265679	0.80358	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817;ENST00000434115	T;T;T;T;T	0.73258	-0.71;-0.73;0.75;0.85;0.33	5.67	2.39	0.29439	.	0.213226	0.30473	N	0.009545	T	0.76392	0.3981	L	0.59436	1.845	0.26006	N	0.982053	D;D	0.76494	0.992;0.999	P;D	0.65323	0.674;0.934	T	0.66348	-0.5946	10	0.87932	D	0	.	7.9284	0.29889	0.0738:0.1143:0.6844:0.1275	.	196;196	E7EX28;O15021-4	.;.	M	196;196;196;196;68;3	ENSP00000385048:V196M;ENSP00000385727:V196M;ENSP00000385088:V196M;ENSP00000384547:V196M;ENSP00000413573:V68M	ENSP00000385727:V196M	V	+	1	0	MAST4	66120322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.312000	0.59154	0.714000	0.32081	0.557000	0.71058	GTG		0.657	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
PCDHA1	56147	broad.mit.edu	37	5	140167892	140167892	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr5:140167892G>A	ENST00000504120.2	+	1	2017	c.2017G>A	c.(2017-2019)Ggc>Agc	p.G673S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.G673S	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	673	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGAGCGGCCAGGCGCC	0.657																																						uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2017-2019)Ggc>Agc		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							42.0	47.0	46.0					5																	140167892		2201	4300	6501	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167892G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2017G>A	5.37:g.140167892G>A	ENSP00000420840:p.Gly673Ser					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.G673S	p.G673S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2017	+			682			Cadherin 6.		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.2017G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	6.117	0.389862	0.11581	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.52057	0.71;0.68	3.89	2.02	0.26589	Cadherin (2);	0.372159	0.19064	N	0.123692	T	0.21267	0.0512	N	0.20574	0.59	0.19775	N	0.999954	B;B	0.32409	0.37;0.17	B;B	0.24394	0.033;0.053	T	0.27905	-1.0060	10	0.05351	T	0.99	.	6.1681	0.20402	0.2562:0.0:0.7438:0.0	.	673;673	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	S	673	ENSP00000420840:G673S;ENSP00000367373:G673S	ENSP00000367373:G673S	G	+	1	0	PCDHA1	140148076	0.096000	0.21769	0.110000	0.21437	0.007000	0.05969	1.293000	0.33353	0.220000	0.20860	0.650000	0.86243	GGC		0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHB18	54660	broad.mit.edu	37	5	140616175	140616175	+	RNA	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr5:140616175C>T	ENST00000526308.1	+	0	2238					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AGGCCCAGGCCGACTCCCTCA	0.687																																						uc003ljc.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						c.(1888-1890)gcC>gcT		Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.																																						54660							g.chr5:140616175C>T	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140616175C>T							p.A630A							0	2238	+								B3KTF8	Silent	SNP	ENST00000526308.1	37	c.1890C>T																																																																																					0.687	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1		
SLC44A4	80736	broad.mit.edu	37	6	31838592	31838592	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr6:31838592C>T	ENST00000229729.6	-	10	954	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	SLC44A4_ENST00000375562.4_Missense_Mutation_p.A270T|SLC44A4_ENST00000544672.1_Missense_Mutation_p.A236T	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	312					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CACTCACGGGCGGCCAGCCAG	0.692																																						uc010jti.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(934-936)Gcc>Acc		Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	Choline(DB00122)						45.0	41.0	43.0					6																	31838592		1510	2707	4217	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31838592C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.934G>A	6.37:g.31838592C>T	ENSP00000229729:p.Ala312Thr					SLC44A4_uc011dol.2_Missense_Mutation_p.A236T|SLC44A4_uc011dom.2_Missense_Mutation_p.A270T	p.A312T	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN			9	1000	-			312					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.934G>A	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547968	0.45383	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.22336	1.96;1.96;1.96	4.38	4.38	0.52667	.	0.211492	0.41938	D	0.000783	T	0.11067	0.0270	M	0.69823	2.125	0.23909	N	0.996491	P;B	0.35077	0.483;0.22	B;B	0.29862	0.065;0.108	T	0.05869	-1.0859	10	0.66056	D	0.02	.	9.9245	0.41483	0.0:0.9042:0.0:0.0958	.	270;312	E9PEK7;Q53GD3	.;CTL4_HUMAN	T	312;270;236	ENSP00000229729:A312T;ENSP00000364712:A270T;ENSP00000444109:A236T	ENSP00000229729:A312T	A	-	1	0	SLC44A4	31946571	0.535000	0.26370	0.181000	0.23098	0.802000	0.45316	1.641000	0.37197	2.445000	0.82738	0.561000	0.74099	GCC		0.692	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3		
COL19A1	1310	broad.mit.edu	37	6	70637867	70637867	+	Silent	SNP	C	C	T	rs143252227		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr6:70637867C>T	ENST00000322773.4	+	5	435	c.333C>T	c.(331-333)aaC>aaT	p.N111N		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	111	Laminin G-like.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358). {ECO:0000305}.	cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TACGAAGAAACGCCAAAAAGG	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19092	0.0		0.0	False		,,,				2504	0.0					uc003pfc.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(331-333)aaC>aaT		Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.		C		3,4403	6.2+/-15.9	0,3,2200	125.0	126.0	126.0		333	1.0	0.4	6	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	COL19A1	NM_001858.4		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		111/1143	70637867	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70637867C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.333C>T	6.37:g.70637867C>T						COL19A1_uc010kam.2_Silent_p.N7N	p.N111N	NM_001858	NP_001849	Q14993	COJA1_HUMAN			4	450	+			111	FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).		TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.333C>T	CCDS4970.1																																																																																				0.428	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
AHR	196	broad.mit.edu	37	7	17378648	17378648	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:17378648C>T	ENST00000242057.4	+	10	1842	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	400					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	AAACGAAATACGAAGTTGCCT	0.333																																						uc011jxz.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(1198-1200)aCg>aTg		Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.							126.0	130.0	129.0					7																	17378648		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17378648C>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1199C>T	7.37:g.17378648C>T	ENSP00000242057:p.Thr400Met						p.T400M	NM_001621	NP_001612	P35869	AHR_HUMAN			9	1812	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		400					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1199C>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.769069	0.00645	.	.	ENSG00000106546	ENST00000242057	T	0.04317	3.65	6.07	-12.1	0.00011	.	1.306250	0.04617	N	0.401417	T	0.00967	0.0032	N	0.00427	-1.505	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37244	-0.9714	10	0.02654	T	1	.	8.157	0.31176	0.0752:0.4399:0.0769:0.4081	.	400	P35869	AHR_HUMAN	M	400	ENSP00000242057:T400M	ENSP00000242057:T400M	T	+	2	0	AHR	17345173	0.078000	0.21339	0.000000	0.03702	0.097000	0.18754	0.403000	0.20982	-2.618000	0.00441	-1.640000	0.00773	ACG		0.333	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621	
RABGEF1	27342	broad.mit.edu	37	7	66240279	66240279	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:66240279C>T	ENST00000284957.5	+	3	322	c.245C>T	c.(244-246)aCa>aTa	p.T82I	RABGEF1_ENST00000437078.2_Missense_Mutation_p.T96I|RABGEF1_ENST00000450873.2_Missense_Mutation_p.T82I|KCTD7_ENST00000451741.2_Missense_Mutation_p.T82I|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.T95I|KCTD7_ENST00000510829.2_Missense_Mutation_p.T82I|KCTD7_ENST00000380828.2_Missense_Mutation_p.T122I			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	260					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAATCCCTCACATTCTCCAAG	0.483																																						uc003tvf.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27								Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.							46.0	46.0	46.0					7																	66240279		2203	4300	6503	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66240279C>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.245C>T	7.37:g.66240279C>T	ENSP00000284957:p.Thr82Ile					RABGEF1_uc003tvg.3_5'UTR|RABGEF1_uc003tvh.3_Missense_Mutation_p.T82I|RABGEF1_uc010lag.3_Missense_Mutation_p.T82I|RABGEF1_uc011kee.2_Missense_Mutation_p.T96I|RABGEF1_uc003tvi.3_5'UTR		NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			5		+								B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37		CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.207920	0.79240	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.49139	1.56;0.8;0.8;0.8;0.8;0.79;0.79	5.56	5.56	0.83823	.	0.108809	0.64402	D	0.000008	T	0.47893	0.1470	L	0.43152	1.355	0.80722	D	1	P	0.44877	0.845	B	0.43478	0.421	T	0.48747	-0.9008	10	0.54805	T	0.06	-17.0002	18.5215	0.90954	0.0:1.0:0.0:0.0	.	96	B4DZM7	.	I	127;122;82;82;82;82;82;95;96	ENSP00000370208:T122I;ENSP00000421124:T82I;ENSP00000398177:T82I;ENSP00000284957:T82I;ENSP00000415815:T82I;ENSP00000403429:T95I;ENSP00000390480:T96I	ENSP00000370207:T127I	T	+	2	0	RABGEF1;KCTD7	65877714	0.999000	0.42202	0.998000	0.56505	0.985000	0.73830	7.478000	0.81082	2.616000	0.88540	0.650000	0.86243	ACA		0.483	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	
PCLO	27445	broad.mit.edu	37	7	82784650	82784650	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:82784650G>A	ENST00000333891.9	-	2	1644	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	PCLO_ENST00000423517.2_Missense_Mutation_p.P436L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTCTTTGTAGGCCCAGGTGC	0.587																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1306-1308)cCt>cTt		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							98.0	100.0	99.0					7																	82784650		1994	4162	6156	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784650G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1307C>T	7.37:g.82784650G>A	ENSP00000334319:p.Pro436Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P436L	p.P436L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			1	1596	-			388			10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1307C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401904	0.25291	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17370	2.31;2.28	5.09	4.21	0.49690	.	.	.	.	.	T	0.18173	0.0436	L	0.43923	1.385	0.20074	N	0.999933	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.16188	-1.0411	9	0.87932	D	0	.	13.9524	0.64126	0.0738:0.0:0.9262:0.0	.	436;436	Q9Y6V0-5;Q9Y6V0-6	.;.	L	436	ENSP00000334319:P436L;ENSP00000388393:P436L	ENSP00000334319:P436L	P	-	2	0	PCLO	82622586	0.996000	0.38824	0.116000	0.21606	0.949000	0.60115	5.132000	0.64758	1.293000	0.44690	0.655000	0.94253	CCT		0.587	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SEMA3D	223117	broad.mit.edu	37	7	84671590	84671590	+	Silent	SNP	T	T	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:84671590T>C	ENST00000284136.6	-	8	916	c.873A>G	c.(871-873)ggA>ggG	p.G291G	SEMA3D_ENST00000484038.1_5'Flank	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	291	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCGTTGTCCTCCTACATCAT	0.378																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(871-873)ggA>ggG		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.							247.0	226.0	233.0					7																	84671590		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84671590T>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.873A>G	7.37:g.84671590T>C						SEMA3D_uc010led.3_Silent_p.G291G|SEMA3D_uc003uib.3_5'Flank	p.G291G	NM_152754	NP_689967	O95025	SEM3D_HUMAN			7	913	-			291			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.873A>G	CCDS34676.1																																																																																				0.378	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
AKAP9	10142	broad.mit.edu	37	7	91708676	91708676	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:91708676delC	ENST00000359028.2	+	32	7490	c.7265delC	c.(7264-7266)accfs	p.T2422fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.T2410fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.T2422fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2422	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGAAATGACCTTCATGAAA	0.353			T	BRAF	papillary thyroid																																	uc003ulg.3				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(7228-7230)accfs		Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.							46.0	49.0	48.0					7																	91708676		2202	4299	6501	SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91708676delC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7265delC	7.37:g.91708676delC	ENSP00000351922:p.Thr2422fs					AKAP9_uc003ulf.3_Frame_Shift_Del_p.T2402fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.T2033fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.T180fs	p.T2410fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		30	7454	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2422			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.7229delC																																																																																					0.353	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
AP4M1	9179	broad.mit.edu	37	7	99702962	99702962	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:99702962A>T	ENST00000359593.4	+	10	985	c.827A>T	c.(826-828)cAg>cTg	p.Q276L	AP4M1_ENST00000429084.1_Missense_Mutation_p.Q283L|AP4M1_ENST00000422582.1_Missense_Mutation_p.Q148L|AP4M1_ENST00000421755.1_Missense_Mutation_p.Q276L	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	276	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAACCACCTCAGGGCGAGGTC	0.552																																					Pancreas(174;1182 2812 29595 49511)	uc003utb.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(826-828)cAg>cTg		Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.							80.0	84.0	82.0					7																	99702962		2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99702962A>T	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.827A>T	7.37:g.99702962A>T	ENSP00000352603:p.Gln276Leu					AP4M1_uc011kjg.1_Missense_Mutation_p.Q230L|AP4M1_uc010lgl.1_Missense_Mutation_p.Q276L|AP4M1_uc003utd.3_Missense_Mutation_p.Q276L|AP4M1_uc011kjh.2_Missense_Mutation_p.Q228L|AP4M1_uc003ute.4_Missense_Mutation_p.Q51L|AP4M1_uc003utf.4_Missense_Mutation_p.Q148L	p.Q276L	NM_004722	NP_004713	O00189	AP4M1_HUMAN			9	1035	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		276			MHD.		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.827A>T	CCDS5685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.043666|4.043666	0.75732|0.75732	.|.	.|.	ENSG00000221838|ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582;ENST00000450807|ENST00000445295	T;T;T;T;T;T;T|.	0.18960|.	2.18;2.18;2.18;2.18;2.18;2.18;2.18|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Clathrin adaptor, mu subunit, conserved site (1);Clathrin adaptor, mu subunit, C-terminal (3);|.	0.115074|.	0.64402|.	D|.	0.000012|.	T|T	0.65790|0.65790	0.2725|0.2725	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P;D|.	0.60160|.	0.713;0.864;0.935;0.987|.	B;P;P;P|.	0.58820|.	0.376;0.471;0.655;0.846|.	T|T	0.65092|0.65092	-0.6252|-0.6252	10|5	0.87932|.	D|.	0|.	-5.3909|-5.3909	12.9215|12.9215	0.58234|0.58234	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	232;228;283;276|.	C9JMG3;B4DKN7;C9JC87;O00189|.	.;.;.;AP4M1_HUMAN|.	L|W	208;283;276;232;276;148;28|2	ENSP00000401613:Q208L;ENSP00000403663:Q283L;ENSP00000352603:Q276L;ENSP00000414286:Q232L;ENSP00000412185:Q276L;ENSP00000406676:Q148L;ENSP00000391585:Q28L|.	ENSP00000352603:Q276L|.	Q|R	+|+	2|1	0|2	AP4M1|AP4M1	99540898|99540898	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	4.138000|4.138000	0.58017|0.58017	2.145000|2.145000	0.66743|0.66743	0.533000|0.533000	0.62120|0.62120	CAG|AGG		0.552	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722	
RELN	5649	broad.mit.edu	37	7	103293088	103293088	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:103293088A>G	ENST00000428762.1	-	14	1832	c.1673T>C	c.(1672-1674)tTc>tCc	p.F558S	RELN_ENST00000424685.2_Missense_Mutation_p.F558S|RELN_ENST00000343529.5_Missense_Mutation_p.F558S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	558					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAAGACATGGAAAAAGTCTAC	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0		p.F558L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1672-1674)tTc>tCc		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							158.0	154.0	155.0					7																	103293088		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103293088A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1673T>C	7.37:g.103293088A>G	ENSP00000392423:p.Phe558Ser					RELN_uc022ajq.1_Missense_Mutation_p.F558S|RELN_uc010liz.3_Missense_Mutation_p.F558S	p.F558S	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	13	1833	-			558					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1673T>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947027	0.73672	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24538	1.85;1.85;1.85	5.67	5.67	0.87782	.	0.096403	0.64402	D	0.000001	T	0.22322	0.0538	L	0.27053	0.805	0.44789	D	0.997795	P;B	0.35272	0.493;0.361	B;B	0.35971	0.215;0.203	T	0.03641	-1.1017	10	0.59425	D	0.04	.	16.215	0.82206	1.0:0.0:0.0:0.0	.	558;558	P78509-2;P78509	.;RELN_HUMAN	S	558	ENSP00000392423:F558S;ENSP00000345694:F558S;ENSP00000388446:F558S	ENSP00000345694:F558S	F	-	2	0	RELN	103080324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.288000	0.76882	0.533000	0.62120	TTC		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
REPIN1	29803	broad.mit.edu	37	7	150068992	150068992	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:150068992C>T	ENST00000425389.2	+	1	740	c.662C>T	c.(661-663)gCg>gTg	p.A221V	REPIN1_ENST00000397281.2_Missense_Mutation_p.A221V|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.A278V|REPIN1_ENST00000444957.1_Missense_Mutation_p.A221V|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.A221V|REPIN1_ENST00000466559.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	221					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ggccgccccgcggtgaccgcc	0.711																																						uc010lpr.1																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(832-834)gCg>gTg		Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.							9.0	11.0	10.0					7																	150068992		1758	3931	5689	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150068992C>T	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.662C>T	7.37:g.150068992C>T	ENSP00000388287:p.Ala221Val					REPIN1_uc003whd.2_Missense_Mutation_p.A210V|REPIN1_uc010lpq.1_Missense_Mutation_p.A221V|REPIN1_uc003whc.2_Missense_Mutation_p.A221V|REPIN1_uc003whe.2_Missense_Mutation_p.A221V	p.A278V	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		2	1026	+	Ovarian(565;0.183)|Melanoma(164;0.226)		221					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.833C>T	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911039	0.33721	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.08546	3.12;3.12;3.12;3.08;3.4;3.22;3.12	5.08	4.19	0.49359	.	.	.	.	.	T	0.04497	0.0123	N	0.08118	0	0.09310	N	0.999999	B;P	0.49862	0.046;0.929	B;B	0.41571	0.007;0.36	T	0.27673	-1.0067	9	0.54805	T	0.06	-6.2403	5.7236	0.18000	0.1948:0.7082:0.0:0.097	.	278;221	C9J3L7;Q9BWE0	.;REPI1_HUMAN	V	221;221;221;278;280;281;221	ENSP00000445016:A221V;ENSP00000380451:A221V;ENSP00000407714:A221V;ENSP00000417291:A278V;ENSP00000419789:A280V;ENSP00000419872:A281V;ENSP00000388287:A221V	ENSP00000380451:A221V	A	+	2	0	REPIN1	149699925	0.307000	0.24500	0.064000	0.19789	0.965000	0.64279	0.876000	0.28092	2.353000	0.79882	0.462000	0.41574	GCG		0.711	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374	
KMT2C	58508	broad.mit.edu	37	7	151904459	151904459	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:151904459G>C	ENST00000262189.6	-	24	3985	c.3767C>G	c.(3766-3768)gCt>gGt	p.A1256G	KMT2C_ENST00000355193.2_Missense_Mutation_p.A1256G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1256					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATCATCCACAGCTTCCCGCTC	0.393																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(3766-3768)gCt>gGt		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							130.0	117.0	122.0					7																	151904459		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151904459G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3767C>G	7.37:g.151904459G>C	ENSP00000262189:p.Ala1256Gly					MLL3_uc003wkz.3_Missense_Mutation_p.A317G	p.A1256G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	23	3986	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1256					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3767C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001596	0.35320	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84298	-1.82;-1.83	5.73	3.93	0.45458	.	0.326617	0.21320	N	0.076488	T	0.73377	0.3579	N	0.22421	0.69	0.80722	D	1	P;B	0.36282	0.546;0.328	B;B	0.31614	0.133;0.1	T	0.73040	-0.4108	10	0.40728	T	0.16	.	11.7033	0.51583	0.1415:0.0:0.8585:0.0	.	1256;317	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	G	1256	ENSP00000262189:A1256G;ENSP00000347325:A1256G	ENSP00000262189:A1256G	A	-	2	0	MLL3	151535392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.845000	0.55880	1.437000	0.47472	0.557000	0.71058	GCT		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
UBE3C	9690	broad.mit.edu	37	7	157000142	157000142	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:157000142T>C	ENST00000348165.5	+	12	1829	c.1469T>C	c.(1468-1470)tTt>tCt	p.F490S		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	490					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCTATGTCTTTTGAAGATTCT	0.358																																						uc010lqs.3																			0		p.S489T(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(1468-1470)tTt>tCt		Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.							177.0	173.0	174.0					7																	157000142		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157000142T>C	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1469T>C	7.37:g.157000142T>C	ENSP00000309198:p.Phe490Ser					UBE3C_uc003wng.2_Missense_Mutation_p.F490S	p.F490S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	11	1781	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	490					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1469T>C	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.555813	0.45487	.	.	ENSG00000009335	ENST00000348165	T	0.39592	1.07	5.26	5.26	0.73747	.	0.178567	0.51477	D	0.000098	T	0.34890	0.0913	L	0.44542	1.39	0.80722	D	1	B;B	0.11235	0.0;0.004	B;B	0.10450	0.001;0.005	T	0.15492	-1.0435	10	0.11794	T	0.64	.	15.1561	0.72743	0.0:0.0:0.0:1.0	.	490;490	Q15386;Q15386-2	UBE3C_HUMAN;.	S	490	ENSP00000309198:F490S	ENSP00000309198:F490S	F	+	2	0	UBE3C	156692903	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	5.650000	0.67944	1.982000	0.57802	0.533000	0.62120	TTT		0.358	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
SGK223	157285	broad.mit.edu	37	8	8234543	8234543	+	Missense_Mutation	SNP	C	C	T	rs552652315		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr8:8234543C>T	ENST00000520004.1	-	3	1640	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q	SGK223_ENST00000330777.4_Missense_Mutation_p.R459Q			Q86YV5	SG223_HUMAN		461							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGGGCTGTCCCGGCCCCAGCC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17709	0.001		0.0	False		,,,				2504	0.0				GBM(34;731 755 10259 33573 33867)	uc003wsh.4																			0											c.(1375-1377)cGg>cAg		Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.							46.0	53.0	50.0					8																	8234543		2073	4215	6288	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234543C>T																												ENST00000520004.1:c.1376G>A	8.37:g.8234543C>T	ENSP00000428054:p.Arg459Gln						p.R459Q	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			1	1376	-			459					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.1376G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	6.207	0.406355	0.11754	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.59638	0.25;0.25	4.23	-8.46	0.00942	.	1.075870	0.07244	N	0.864715	T	0.44477	0.1295	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27536	-1.0071	10	0.38643	T	0.18	.	17.2052	0.86916	0.0:0.7916:0.0:0.2084	.	459	Q86YV5	SG223_HUMAN	Q	459	ENSP00000330930:R459Q;ENSP00000428054:R459Q	ENSP00000330930:R459Q	R	-	2	0	AC068353.1	8271953	0.000000	0.05858	0.306000	0.25113	0.121000	0.20230	-1.464000	0.02359	-1.869000	0.01141	-1.021000	0.02439	CGG		0.622	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		
CNTNAP3	79937	broad.mit.edu	37	9	39140559	39140559	+	Silent	SNP	T	T	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:39140559T>A	ENST00000297668.6	-	12	1906	c.1833A>T	c.(1831-1833)ggA>ggT	p.G611G	CNTNAP3_ENST00000377656.2_Silent_p.G611G|CNTNAP3_ENST00000377659.1_Silent_p.G611G|CNTNAP3_ENST00000323947.7_Silent_p.G518G|CNTNAP3_ENST00000358144.2_Silent_p.G523G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	611	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGGGCCACTTCCATCTGCAT	0.453																																						uc004abi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1831-1833)ggA>ggT		Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.							49.0	57.0	54.0					9																	39140559		2203	4300	6503	SO:0001819	synonymous_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39140559T>A	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1833A>T	9.37:g.39140559T>A						CNTNAP3_uc004abj.3_Silent_p.G611G|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.G611G|CNTNAP3_uc011lqs.1_Silent_p.G518G	p.G611G	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	11	2072	-			611			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	c.1833A>T	CCDS6616.1																																																																																				0.453	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
ZNF618	114991	broad.mit.edu	37	9	116810979	116810979	+	Missense_Mutation	SNP	G	G	A	rs371074016		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:116810979G>A	ENST00000374126.5	+	15	1496	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	ZNF618_ENST00000288466.7_Missense_Mutation_p.R373Q|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	466					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)|lung(10)|urinary_tract(1)	16						GAAAAGGAGCGGCAGAACATC	0.552																																						uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1396-1398)cGg>cAg		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.		G	GLN/ARG	0,4074		0,0,2037	97.0	101.0	100.0		1118	5.2	1.0	9		100	1,8343		0,1,4171	no	missense	ZNF618	NM_133374.2	43	0,1,6208	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	373/862	116810979	1,12417	2037	4172	6209	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116810979G>A	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1397G>A	9.37:g.116810979G>A	ENSP00000363241:p.Arg466Gln					ZNF618_uc004bic.3_Missense_Mutation_p.R373Q|ZNF618_uc011lxi.2_Missense_Mutation_p.R433Q|ZNF618_uc011lxj.2_Missense_Mutation_p.R434Q|ZNF618_uc010mvb.3_Missense_Mutation_p.R56Q	p.R466Q	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			14	1496	+			466					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.1397G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.466481	0.84425	0.0	1.2E-4	ENSG00000157657	ENST00000374126;ENST00000288466	T	0.03212	4.01	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	.	.	.	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.79784	0.945;0.992;0.993	T	0.00199	-1.1928	9	0.72032	D	0.01	-21.1032	17.637	0.88125	0.0:0.0:1.0:0.0	.	433;466;373	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	Q	466;373	ENSP00000288466:R373Q	ENSP00000288466:R373Q	R	+	2	0	ZNF618	115850800	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.188000	0.94921	2.402000	0.81655	0.561000	0.74099	CGG		0.552	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
PNPLA7	375775	broad.mit.edu	37	9	140389550	140389550	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:140389550G>A	ENST00000277531.4	-	18	2173	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R269W|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R688W	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	663					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCTGAGTCCCGAACGGCATGC	0.687																																						uc010ncj.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2062-2064)Cgg>Tgg		Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.							92.0	83.0	86.0					9																	140389550		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140389550G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1987C>T	9.37:g.140389550G>A	ENSP00000277531:p.Arg663Trp					PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Missense_Mutation_p.R663W	p.R688W	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	18	2399	-	all_cancers(76;0.126)		663					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.2062C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.633084	0.47049	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.65	3.75	0.43078	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	H	0.96633	3.855	0.80722	D	1	D;P	0.52996	0.957;0.941	B;P	0.50970	0.399;0.655	T	0.76058	-0.3098	10	0.87932	D	0	-32.4114	10.8772	0.46917	0.0942:0.0:0.9058:0.0	.	688;663	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	W	269;663;688;663;654	ENSP00000360512:R269W;ENSP00000277531:R663W;ENSP00000384610:R688W;ENSP00000400582:R654W	ENSP00000277531:R663W	R	-	1	2	PNPLA7	139509371	0.495000	0.26051	0.716000	0.30569	0.026000	0.11368	1.050000	0.30404	1.089000	0.41292	-0.152000	0.13540	CGG		0.687	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	
TUBBP5	643224	broad.mit.edu	37	9	141070969	141070969	+	RNA	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:141070969A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.A196A(1)									TAGAAAACGCAGATGAGACCT	0.517																																						uc010ncq.3																			1	Substitution - coding silent(1)	p.A196A(1)	endometrium(1)										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																																						643224							g.chr9:141070969A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070969A>G														4		+									Silent	SNP	ENST00000503395.1	37																																																																																						0.517	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
ZCCHC13	389874	broad.mit.edu	37	X	73524398	73524398	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chrX:73524398T>A	ENST00000339534.2	+	1	374	c.297T>A	c.(295-297)caT>caA	p.H99Q		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	99							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GACTAGGACATCTGGCTCGTG	0.512																																						uc004ebs.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						c.(295-297)caT>caA		Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA.							112.0	90.0	97.0					X																	73524398		2203	4300	6503	SO:0001583	missense	389874						nucleic acid binding|zinc ion binding	g.chrX:73524398T>A	BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.297T>A	X.37:g.73524398T>A	ENSP00000345633:p.His99Gln						p.H99Q	NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN			0	374	+			99						Missense_Mutation	SNP	ENST00000339534.2	37	c.297T>A	CCDS14425.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066548	0.36470	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	0.308	0.15815	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.000000	0.64402	U	0.000001	D	0.85843	0.5791	H	0.98466	4.24	0.50632	D	0.99988	D	0.89917	1.0	D	0.97110	1.0	D	0.83844	0.0259	9	0.87932	D	0	.	7.8251	0.29311	0.0:0.5373:0.0:0.4627	.	99	Q8WW36	ZCH13_HUMAN	Q	99	.	ENSP00000345633:H99Q	H	+	3	2	ZCCHC13	73441123	0.901000	0.30685	0.982000	0.44146	0.018000	0.09664	0.100000	0.15231	-0.056000	0.13221	-0.509000	0.04479	CAT		0.512	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057260.1	NM_203303	
MAGEA12	4111	broad.mit.edu	37	X	151900252	151900252	+	Silent	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chrX:151900252G>A	ENST00000357916.4	-	2	704	c.549C>T	c.(547-549)ggC>ggT	p.G183G	MAGEA12_ENST00000393900.3_Silent_p.G183G|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393869.3_Silent_p.G183G	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	183	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGTAGGAGAGGCCCAGGCAGG	0.577																																						uc022chj.1																			0		p.L182Q(1)|p.G183V(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(547-549)ggC>ggT		Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.							144.0	137.0	139.0					X																	151900252		2203	4300	6503	SO:0001819	synonymous_variant	4111							g.chrX:151900252G>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.549C>T	X.37:g.151900252G>A						MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.G183G|MAGEA12_uc022chi.1_Silent_p.G183G|MAGEA12_uc004fgc.3_Silent_p.G183G|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	p.G183G	NM_005367	NP_005358	P43365	MAGAC_HUMAN			0	549	-	Acute lymphoblastic leukemia(192;6.56e-05)		183			MAGE.		Q9NSD3	Silent	SNP	ENST00000357916.4	37	c.549C>T	CCDS14710.1																																																																																				0.577	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367	
