#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ENO1	2023	broad.mit.edu	37	1	8928111	8928111	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:8928111C>G	ENST00000234590.4	-	5	365	c.246G>C	c.(244-246)ctG>ctC	p.L82L		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	82					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CTGTGACGTTCAGTTTCTACG	0.473																																					Esophageal Squamous(21;302 608 19946 22210 33560)	uc001apj.1		NA																	0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(244-246)CTG>CTC		enolase 1							348.0	338.0	341.0					1																	8928111		2203	4300	6503	SO:0001819	synonymous_variant	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8928111C>G	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.246G>C	1.37:g.8928111C>G						ENO1_uc001api.1_5'UTR|ENO1_uc001apk.1_Silent_p.L27L|ENO1_uc001apl.1_Silent_p.L82L|ENO1_uc009vmi.1_Intron|ENO1_uc009vmj.1_Silent_p.L82L|ENO1_uc009vmk.1_Intron|ENO1_uc009vml.1_Silent_p.L82L	p.L82L	NM_001428	NP_001419	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	5	397	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	82					B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	ENST00000234590.4	37	c.246G>C	CCDS97.1																																																																																				0.473	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		21	304	0	0	0	0	21	304				
KIF1B	23095	broad.mit.edu	37	1	10357284	10357284	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:10357284C>A	ENST00000377086.1	+	22	2297	c.2095C>A	c.(2095-2097)Ctt>Att	p.L699I	KIF1B_ENST00000377083.1_Missense_Mutation_p.L653I|KIF1B_ENST00000377093.4_Missense_Mutation_p.L653I|RNU6-37P_ENST00000362692.1_RNA|KIF1B_ENST00000377081.1_Missense_Mutation_p.L699I|KIF1B_ENST00000263934.6_Missense_Mutation_p.L653I			O60333	KIF1B_HUMAN	kinesin family member 1B	699					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGCAGATCTTCTTTTGGAGCA	0.393																																						uc001aqx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2095-2097)CTT>ATT		kinesin family member 1B isoform b							148.0	154.0	152.0					1																	10357284		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10357284C>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2095C>A	1.37:g.10357284C>A	ENSP00000366290:p.Leu699Ile					KIF1B_uc001aqv.3_Missense_Mutation_p.L653I|KIF1B_uc001aqw.3_Missense_Mutation_p.L653I|KIF1B_uc001aqy.2_Missense_Mutation_p.L673I|KIF1B_uc001aqz.2_Missense_Mutation_p.L699I|KIF1B_uc001ara.2_Missense_Mutation_p.L659I|KIF1B_uc001arb.2_Missense_Mutation_p.L685I	p.L699I	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	22	2297	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	699			Potential.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2095C>A		.	.	.	.	.	.	.	.	.	.	C	17.19	3.327096	0.60743	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	6.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	D	0.82476	0.5045	L	0.60845	1.875	0.58432	D	0.999993	B;P;P;P;P;D;D	0.56035	0.365;0.884;0.5;0.768;0.528;0.974;0.957	B;P;B;P;B;D;P	0.70487	0.216;0.596;0.173;0.474;0.287;0.969;0.723	T	0.79431	-0.1806	10	0.33940	T	0.23	.	7.5448	0.27759	0.0:0.8271:0.0:0.1729	.	685;659;699;673;699;653;653	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	I	699;653;653;699;653;699	ENSP00000263934:L653I;ENSP00000366297:L653I;ENSP00000366290:L699I;ENSP00000366287:L653I;ENSP00000366284:L699I	ENSP00000263934:L653I	L	+	1	0	KIF1B	10279871	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.727000	0.61993	2.941000	0.99782	0.655000	0.94253	CTT		0.393	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			19	143	1	0	2.38e-13	9.52e-13	19	143				
TCHHL1	126637	broad.mit.edu	37	1	152058381	152058381	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:152058381C>G	ENST00000368806.1	-	3	1841	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	593							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCTGGGTATCTGGGTTATTA	0.542																																						uc001ezo.1		NA																	0				ovary(1)|skin(1)	2						c.(1777-1779)GAT>CAT		trichohyalin-like 1							145.0	140.0	142.0					1																	152058381		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058381C>G		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1777G>C	1.37:g.152058381C>G	ENSP00000357796:p.Asp593His						p.D593H	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1842	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		593					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1777G>C	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	17.70	3.453658	0.63290	.	.	ENSG00000182898	ENST00000368806	T	0.33438	1.41	5.3	4.4	0.53042	.	0.406751	0.18042	N	0.153583	T	0.20170	0.0485	L	0.42245	1.32	0.21445	N	0.999682	D	0.52996	0.957	P	0.51582	0.674	T	0.03840	-1.0999	10	0.49607	T	0.09	-3.1719	9.8877	0.41272	0.0:0.9055:0.0:0.0945	.	593	Q5QJ38	TCHL1_HUMAN	H	593	ENSP00000357796:D593H	ENSP00000357796:D593H	D	-	1	0	TCHHL1	150325005	0.012000	0.17670	0.878000	0.34440	0.147000	0.21601	1.883000	0.39658	1.244000	0.43870	-0.136000	0.14681	GAT		0.542	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		11	181	0	0	0	0	11	181				
F13B	2165	broad.mit.edu	37	1	197021931	197021931	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:197021931C>G	ENST00000367412.1	-	9	1431	c.1388G>C	c.(1387-1389)aGa>aCa	p.R463T	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	463	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TATGTTATTTCTGTTCATGTA	0.279																																						uc001gtt.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1387-1389)AGA>ACA		coagulation factor XIII B subunit precursor							93.0	96.0	95.0					1																	197021931		2203	4295	6498	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197021931C>G	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1388G>C	1.37:g.197021931C>G	ENSP00000356382:p.Arg463Thr						p.R463T	NM_001994	NP_001985	P05160	F13B_HUMAN			9	1432	-			463			Sushi 8.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1388G>C	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	9.781	1.175243	0.21704	.	.	ENSG00000143278	ENST00000367412	D	0.83075	-1.68	5.47	2.2	0.27929	Complement control module (1);	0.000000	0.36066	N	0.002817	T	0.63260	0.2496	N	0.20986	0.625	0.19775	N	0.99995	B	0.31968	0.349	B	0.27380	0.079	T	0.46830	-0.9163	10	0.14656	T	0.56	.	4.5229	0.11968	0.1598:0.5472:0.0:0.293	.	463	P05160	F13B_HUMAN	T	463	ENSP00000356382:R463T	ENSP00000356382:R463T	R	-	2	0	F13B	195288554	0.988000	0.35896	0.995000	0.50966	0.993000	0.82548	1.224000	0.32539	1.301000	0.44836	0.655000	0.94253	AGA		0.279	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		8	71	0	0	0	0	8	71				
ATP2B4	493	broad.mit.edu	37	1	203652440	203652440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:203652440G>A	ENST00000357681.5	+	2	1230	c.107G>A	c.(106-108)cGt>cAt	p.R36H	ATP2B4_ENST00000391954.2_Missense_Mutation_p.R36H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R36H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R36H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R36H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	36					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGGAGCTGCGTTCAAGGGAT	0.522																																						uc001gzw.2		NA																	0				ovary(2)|skin(1)	3						c.(106-108)CGT>CAT		plasma membrane calcium ATPase 4 isoform 4b							168.0	154.0	159.0					1																	203652440		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203652440G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.107G>A	1.37:g.203652440G>A	ENSP00000350310:p.Arg36His					ATP2B4_uc001gzv.2_Missense_Mutation_p.R36H|ATP2B4_uc009xaq.2_Missense_Mutation_p.R36H	p.R36H	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	991	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		36			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.107G>A	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959121	0.92726	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.94138	-3.34;-3.34;-3.36;-3.3;-3.34	5.93	5.01	0.66863	.	0.113690	0.40469	N	0.001084	D	0.96156	0.8747	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;0.975;0.999	D;B;D	0.80764	0.994;0.427;0.988	D	0.95789	0.8823	10	0.62326	D	0.03	-8.7314	13.2601	0.60101	0.0782:0.0:0.9218:0.0	.	36;36;36	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	H	36	ENSP00000350310:R36H;ENSP00000356187:R36H;ENSP00000356188:R36H;ENSP00000375816:R36H;ENSP00000340930:R36H	ENSP00000340930:R36H	R	+	2	0	ATP2B4	201919063	1.000000	0.71417	0.951000	0.38953	0.835000	0.47333	7.412000	0.80091	2.814000	0.96858	0.655000	0.94253	CGT		0.522	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		10	165	0	0	0	0	10	165				
APBB1IP	54518	broad.mit.edu	37	10	26789871	26789871	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:26789871A>T	ENST00000376236.4	+	5	739	c.284A>T	c.(283-285)cAt>cTt	p.H95L	APBB1IP_ENST00000356785.4_Missense_Mutation_p.H95L	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	95					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AATCAACATCATTCAGCATCT	0.448																																						uc001iss.2		NA																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(283-285)CAT>CTT		amyloid beta (A4) precursor protein-binding,							180.0	154.0	163.0					10																	26789871		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26789871A>T	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.284A>T	10.37:g.26789871A>T	ENSP00000365411:p.His95Leu					APBB1IP_uc001isr.2_Missense_Mutation_p.H95L|APBB1IP_uc009xks.1_Missense_Mutation_p.H95L	p.H95L	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			5	605	+			95					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.284A>T	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.297614	0.40694	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.29655	1.56	5.84	-5.56	0.02529	.	0.862647	0.10805	N	0.632266	T	0.18593	0.0446	L	0.54323	1.7	0.09310	N	1	B;B;B	0.30664	0.289;0.0;0.001	B;B;B	0.23275	0.045;0.001;0.003	T	0.14671	-1.0464	10	0.27785	T	0.31	.	4.0027	0.09587	0.1949:0.5054:0.186:0.1136	.	95;95;95	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	L	95	ENSP00000365411:H95L	ENSP00000349237:H95L	H	+	2	0	APBB1IP	26829877	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.947000	0.03901	-0.982000	0.03515	0.460000	0.39030	CAT		0.448	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		9	109	0	0	0	0	9	109				
FAM13C	220965	broad.mit.edu	37	10	61014170	61014170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:61014170G>A	ENST00000373868.2	-	11	1357	c.1270C>T	c.(1270-1272)Ctt>Ttt	p.L424F	FAM13C_ENST00000435852.2_Missense_Mutation_p.L424F|FAM13C_ENST00000373867.3_Missense_Mutation_p.L341F|FAM13C_ENST00000277705.6_Missense_Mutation_p.L445F|FAM13C_ENST00000422313.2_Missense_Mutation_p.L424F|FAM13C_ENST00000468840.2_Missense_Mutation_p.L341F|FAM13C_ENST00000419214.2_Missense_Mutation_p.L326F|FAM13C_ENST00000442566.3_Missense_Mutation_p.L445F	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	424										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGGTCATAAAGCGGCTTTATG	0.348																																						uc001jkn.2		NA																	0				ovary(2)	2						c.(1270-1272)CTT>TTT		hypothetical protein LOC220965 isoform 1							280.0	271.0	274.0					10																	61014170		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61014170G>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1270C>T	10.37:g.61014170G>A	ENSP00000362975:p.Leu424Phe					FAM13C_uc001jko.2_Missense_Mutation_p.L326F|FAM13C_uc010qid.1_Missense_Mutation_p.L341F|FAM13C_uc010qie.1_Missense_Mutation_p.L341F|FAM13C_uc010qif.1_Missense_Mutation_p.L446F|FAM13C_uc001jkp.2_Missense_Mutation_p.L341F	p.L424F	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			12	1404	-			424					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.1270C>T	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017497	0.35606	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T	0.66099	-0.11;-0.04;-0.19;-0.02;-0.07;0.05	5.51	4.61	0.57282	.	0.086938	0.49305	N	0.000145	T	0.66819	0.2828	M	0.82193	2.58	0.46096	D	0.998861	B;B;B;P;B	0.40970	0.278;0.075;0.086;0.734;0.178	B;B;B;B;B	0.39503	0.186;0.056;0.059;0.301;0.122	T	0.73487	-0.3967	10	0.87932	D	0	-5.4101	14.4907	0.67649	0.0709:0.0:0.9291:0.0	.	424;341;424;326;424	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	F	341;424;445;445;326;341;424;424	ENSP00000362975:L424F;ENSP00000395661:L445F;ENSP00000277705:L445F;ENSP00000391993:L326F;ENSP00000392302:L424F;ENSP00000400241:L424F	ENSP00000277705:L445F	L	-	1	0	FAM13C	60684176	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	3.940000	0.56599	1.326000	0.45319	-0.300000	0.09419	CTT		0.348	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			7	115	0	0	0	0	7	115				
RNLS	55328	broad.mit.edu	37	10	90034742	90034742	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:90034742C>T	ENST00000371947.3	-	7	2263	c.924G>A	c.(922-924)atG>atA	p.M308I	RNLS_ENST00000437752.1_Missense_Mutation_p.M225I	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	0					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CAATCGCCATCATCCAGGGGC	0.448																																						uc001kfd.2		NA																	0				ovary(1)	1						c.(922-924)ATG>ATA		renalase isoform 2							124.0	103.0	110.0					10																	90034742		2203	4300	6503	SO:0001583	missense	55328					extracellular region	oxidoreductase activity	g.chr10:90034742C>T	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000371947.3:c.924G>A	10.37:g.90034742C>T	ENSP00000361015:p.Met308Ile					RNLS_uc010qms.1_Missense_Mutation_p.M225I	p.M308I	NM_018363	NP_060833	Q5VYX0	RNLS_HUMAN			7	1059	-			Error:Variant_position_missing_in_Q5VYX0_after_alignment					Q9BS33|Q9NUP8	Missense_Mutation	SNP	ENST00000371947.3	37	c.924G>A	CCDS7388.1	.	.	.	.	.	.	.	.	.	.	C	4.704	0.130881	0.08981	.	.	ENSG00000184719	ENST00000371947;ENST00000437752	T;T	0.41400	1.02;1.0	1.58	0.646	0.17789	.	.	.	.	.	T	0.19287	0.0463	N	0.08118	0	0.09310	N	1	B;B	0.18013	0.025;0.0	B;B	0.20384	0.029;0.0	T	0.20874	-1.0262	9	0.30078	T	0.28	.	3.9614	0.09412	0.0:0.7691:0.0:0.2309	.	225;308	B4DJW3;Q5VYX0-2	.;.	I	308;225	ENSP00000361015:M308I;ENSP00000387577:M225I	ENSP00000361015:M308I	M	-	3	0	RNLS	90024722	0.012000	0.17670	0.003000	0.11579	0.001000	0.01503	0.263000	0.18478	0.222000	0.20900	-0.145000	0.13849	ATG		0.448	RNLS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049249.1	NM_018363		6	54	0	0	0	0	6	54				
PLCE1	51196	broad.mit.edu	37	10	96028705	96028705	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:96028705G>A	ENST00000371380.3	+	16	4536	c.4301G>A	c.(4300-4302)cGa>cAa	p.R1434Q	PLCE1_ENST00000371385.3_Missense_Mutation_p.R1126Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R1126Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.R1434Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1434	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAAGGCTGTCGAAGTGTAGAA	0.488																																						uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(4300-4302)CGA>CAA		phospholipase C, epsilon 1 isoform 1							106.0	107.0	107.0					10																	96028705		2062	4223	6285	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96028705G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4301G>A	10.37:g.96028705G>A	ENSP00000360431:p.Arg1434Gln					PLCE1_uc010qnx.1_Missense_Mutation_p.R1418Q|PLCE1_uc001kjm.2_Missense_Mutation_p.R1126Q	p.R1434Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			17	4935	+		Colorectal(252;0.0458)	1434			PI-PLC X-box.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.4301G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805480	0.96967	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.93983	0.8073	H	0.97516	4.02	0.48040	D	0.999575	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.95476	0.8556	10	0.87932	D	0	.	19.7034	0.96065	0.0:0.0:1.0:0.0	.	1418;1126;1434	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	1434;1434;1126;1126	ENSP00000260766:R1434Q;ENSP00000360431:R1434Q;ENSP00000360438:R1126Q;ENSP00000360426:R1126Q	ENSP00000260766:R1434Q	R	+	2	0	PLCE1	96018695	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	9.837000	0.99465	2.756000	0.94617	0.561000	0.74099	CGA		0.488	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		10	69	0	0	0	0	10	69				
NUP98	4928	broad.mit.edu	37	11	3697545	3697545	+	Silent	SNP	A	A	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:3697545A>G	ENST00000324932.7	-	33	5667	c.5247T>C	c.(5245-5247)gaT>gaC	p.D1749D	NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Silent_p.D1675D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1766					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CGGAGGTTCTATCAGGAGGAT	0.567			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2		NA		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(5245-5247)GAT>GAC		nucleoporin 98kD isoform 1							90.0	89.0	90.0					11																	3697545		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3697545A>G	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5247T>C	11.37:g.3697545A>G						NUP98_uc001lyi.2_Silent_p.D1675D|NUP98_uc001lyg.2_Silent_p.D714D	p.D1749D	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	33	5538	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1766					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.5247T>C	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	A	6.937	0.542590	0.13250	.	.	ENSG00000110713	ENST00000429801	.	.	.	5.65	0.348	0.16026	.	.	.	.	.	.	.	.	.	.	.	0.51482	D	0.999924	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.0643	0.5304	0.00628	0.3782:0.1283:0.2608:0.2327	.	.	.	.	Q	702	.	.	X	-	1	0	NUP98	3654121	0.529000	0.26322	0.866000	0.34008	0.923000	0.55619	0.332000	0.19751	0.415000	0.25817	0.454000	0.30748	TAG		0.567	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		12	89	0	0	0	0	12	89				
KAT5	10524	broad.mit.edu	37	11	65482118	65482118	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:65482118C>T	ENST00000377046.3	+	8	1016	c.744C>T	c.(742-744)tcC>tcT	p.S248S	KAT5_ENST00000534650.1_Silent_p.S37S|KAT5_ENST00000341318.4_Silent_p.S281S|KAT5_ENST00000352980.4_Silent_p.S196S|KAT5_ENST00000530446.1_Silent_p.S229S	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	248	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GGTACTTCTCCCCGTACCCAC	0.562																																						uc001ofi.2		NA																	0					0						c.(742-744)TCC>TCT		K(lysine) acetyltransferase 5 isoform 2							179.0	151.0	161.0					11																	65482118		2201	4297	6498	SO:0001819	synonymous_variant	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65482118C>T	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.744C>T	11.37:g.65482118C>T						KAT5_uc001ofj.2_Silent_p.S196S|KAT5_uc001ofk.2_Silent_p.S281S|KAT5_uc010roo.1_Silent_p.S229S|KAT5_uc001ofl.2_Silent_p.S37S	p.S248S	NM_006388	NP_006379	Q92993	KAT5_HUMAN			8	994	+			248					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Silent	SNP	ENST00000377046.3	37	c.744C>T	CCDS31610.1																																																																																				0.562	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		25	136	0	0	0	0	25	136				
MED17	9440	broad.mit.edu	37	11	93528169	93528169	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:93528169A>G	ENST00000251871.3	+	6	1242	c.955A>G	c.(955-957)Aaa>Gaa	p.K319E	MED17_ENST00000533367.1_Intron|snoU13_ENST00000459243.1_RNA	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	319					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)				TGTTCAAATTAAATCACAAGT	0.418																																						uc001pem.3		NA																	0				ovary(1)	1						c.(955-957)AAA>GAA		mediator complex subunit 17							107.0	110.0	109.0					11																	93528169		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.chr11:93528169A>G	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.955A>G	11.37:g.93528169A>G	ENSP00000251871:p.Lys319Glu						p.K319E	NM_004268	NP_004259	Q9NVC6	MED17_HUMAN			6	1230	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	319					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	c.955A>G	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	A	33	5.274118	0.95459	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.54866	0.55	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.70375	-0.4889	10	0.59425	D	0.04	-23.2121	15.7344	0.77831	1.0:0.0:0.0:0.0	.	319	Q9NVC6	MED17_HUMAN	E	319;289	ENSP00000251871:K319E	ENSP00000251871:K319E	K	+	1	0	MED17	93167817	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.158000	0.94723	2.132000	0.65825	0.533000	0.62120	AAA		0.418	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		4	114	0	0	0	0	4	114				
DYNC2H1	79659	broad.mit.edu	37	11	103062954	103062954	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:103062954C>G	ENST00000375735.2	+	47	7813	c.7669C>G	c.(7669-7671)Caa>Gaa	p.Q2557E	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q2557E	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2557					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATCAGTGTTTCAAGGAGATTG	0.338																																						uc001pho.2		NA																	0					0						c.(7669-7671)CAA>GAA		dynein, cytoplasmic 2, heavy chain 1							63.0	60.0	61.0					11																	103062954		1837	4091	5928	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103062954C>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.7669C>G	11.37:g.103062954C>G	ENSP00000364887:p.Gln2557Glu					DYNC2H1_uc001phn.1_Missense_Mutation_p.Q2557E|DYNC2H1_uc009yxe.1_Intron	p.Q2557E	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	47	7813	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2557					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.7669C>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774369	0.31411	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.25749	1.78;1.78	5.6	4.63	0.57726	.	.	.	.	.	T	0.18215	0.0437	L	0.29908	0.895	0.40811	D	0.983424	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.04333	-1.0959	9	0.08381	T	0.77	.	15.6305	0.76904	0.1379:0.8621:0.0:0.0	.	2557;2557	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	E	2557	ENSP00000364887:Q2557E;ENSP00000381167:Q2557E	ENSP00000364887:Q2557E	Q	+	1	0	DYNC2H1	102568164	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	3.605000	0.54088	2.786000	0.95864	0.563000	0.77884	CAA		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		4	24	0	0	0	0	4	24				
PLEKHA5	54477	broad.mit.edu	37	12	19282753	19282753	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:19282753T>G	ENST00000299275.6	+	1	26	c.20T>G	c.(19-21)cTg>cGg	p.L7R	PLEKHA5_ENST00000540972.1_Missense_Mutation_p.L7R|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.L7R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.L7R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.L7R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.L7R|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.L7R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.L7R|PLEKHA5_ENST00000539256.1_5'UTR	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	7					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATCTGAACCTGGAGTGGATC	0.692																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(19-21)CTG>CGG		pleckstrin homology domain containing, family A							18.0	21.0	20.0					12																	19282753		2202	4295	6497	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19282753T>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.20T>G	12.37:g.19282753T>G	ENSP00000299275:p.Leu7Arg					PLEKHA5_uc010sie.1_Missense_Mutation_p.L7R|PLEKHA5_uc001rea.2_Missense_Mutation_p.L7R|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc001rdz.3_Missense_Mutation_p.L7R	p.L7R	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			1	106	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		7					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.20T>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	t	14.47	2.544703	0.45280	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000412219;ENST00000540972;ENST00000429027;ENST00000299275;ENST00000538714	T;T;T;T;T;T;T	0.09817	2.96;2.96;2.96;2.94;2.95;2.96;2.96	3.56	3.56	0.40772	WW/Rsp5/WWP (1);	7.842460	0.00807	U	0.001463	T	0.06416	0.0165	N	0.01874	-0.695	0.80722	D	1	P;P;D	0.54207	0.838;0.94;0.965	B;B;B	0.41813	0.202;0.202;0.367	T	0.33929	-0.9849	10	0.72032	D	0.01	.	9.6411	0.39839	0.0:0.0:0.0:1.0	.	7;7;7	B4DHK5;Q9HAU0;Q9HAU0-2	.;PKHA5_HUMAN;.	R	7	ENSP00000325155:L7R;ENSP00000347560:L7R;ENSP00000352104:L7R;ENSP00000311239:L7R;ENSP00000404296:L7R;ENSP00000299275:L7R;ENSP00000439673:L7R	ENSP00000299275:L7R	L	+	2	0	PLEKHA5	19174020	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.965000	0.40471	1.512000	0.48834	0.235000	0.17854	CTG		0.692	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		3	21	0	0	0	0	3	21				
RAPGEF3	10411	broad.mit.edu	37	12	48143717	48143717	+	Silent	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:48143717G>A	ENST00000449771.2	-	8	901	c.813C>T	c.(811-813)acC>acT	p.T271T	RAPGEF3_ENST00000395358.3_Silent_p.T271T|RAPGEF3_ENST00000405493.2_Silent_p.T229T|RAPGEF3_ENST00000548919.1_Silent_p.T229T|RAPGEF3_ENST00000549347.1_5'Flank|RAPGEF3_ENST00000171000.4_Silent_p.T229T|RAPGEF3_ENST00000549151.1_Silent_p.T229T|RAPGEF3_ENST00000389212.3_Silent_p.T271T			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	271					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ACTTACACACGGTCCCTGCCT	0.567																																						uc009zkp.2		NA																	0				lung(2)|skin(1)|pancreas(1)	4						c.(685-687)ACC>ACT		Rap guanine nucleotide exchange factor 3 isoform							253.0	250.0	251.0					12																	48143717		2203	4300	6503	SO:0001819	synonymous_variant	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48143717G>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.813C>T	12.37:g.48143717G>A						RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Silent_p.T229T|RAPGEF3_uc001rpz.3_Silent_p.T271T|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Silent_p.T283T|RAPGEF3_uc001rqb.3_Silent_p.T271T	p.T229T	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	7	1127	-	Lung SC(27;0.192)		229					A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP	ENST00000449771.2	37	c.687C>T	CCDS41775.1																																																																																				0.567	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		23	301	0	0	0	0	23	301				
SRGAP1	57522	broad.mit.edu	37	12	64502717	64502717	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:64502717G>C	ENST00000355086.3	+	16	2343	c.1819G>C	c.(1819-1821)Gat>Cat	p.D607H	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D584H|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D544H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	607	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGTAGGAATAGATAATCTCTA	0.443																																						uc010ssp.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1819-1821)GAT>CAT		SLIT-ROBO Rho GTPase activating protein 1							122.0	106.0	111.0					12																	64502717		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64502717G>C	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1819G>C	12.37:g.64502717G>C	ENSP00000347198:p.Asp607His					SRGAP1_uc001srv.2_Missense_Mutation_p.D544H	p.D607H	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	16	1875	+			607			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1819G>C	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.634210	0.67130	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.47869	0.83;0.83;0.83	5.2	5.2	0.72013	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.35805	U	0.002979	T	0.58977	0.2160	L	0.55990	1.75	0.80722	D	1	P;B	0.37176	0.586;0.13	P;B	0.49637	0.617;0.286	T	0.51212	-0.8734	9	.	.	.	.	19.6294	0.95694	0.0:0.0:1.0:0.0	.	607;544	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	607;584;544	ENSP00000347198:D607H;ENSP00000350480:D584H;ENSP00000437948:D544H	.	D	+	1	0	SRGAP1	62788984	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	9.452000	0.97615	2.822000	0.97130	0.650000	0.86243	GAT		0.443	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			12	89	0	0	0	0	12	89				
MYBPC1	4604	broad.mit.edu	37	12	102067320	102067320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:102067320G>A	ENST00000550270.1	+	24	2708	c.2708G>A	c.(2707-2709)aGg>aAg	p.R903K	MYBPC1_ENST00000547405.1_Missense_Mutation_p.R859K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R910K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R872K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R871K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R903K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R873K|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R916K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R885K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R866K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R885K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R786K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R903K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R903K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R910K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	903	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAAGCAGAGAGGAGCCACTCT	0.388																																						uc001tii.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(2707-2709)AGG>AAG		myosin binding protein C, slow type isoform 3							161.0	172.0	168.0					12																	102067320		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102067320G>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2708G>A	12.37:g.102067320G>A	ENSP00000449702:p.Arg903Lys					MYBPC1_uc001tig.2_Missense_Mutation_p.R910K|MYBPC1_uc010svq.1_Missense_Mutation_p.R872K|MYBPC1_uc001tih.2_Missense_Mutation_p.R910K|MYBPC1_uc001tij.2_Missense_Mutation_p.R885K|MYBPC1_uc010svr.1_Missense_Mutation_p.R885K|MYBPC1_uc010svs.1_Missense_Mutation_p.R903K|MYBPC1_uc010svt.1_Missense_Mutation_p.R873K|MYBPC1_uc010svu.1_Missense_Mutation_p.R866K|MYBPC1_uc001tik.2_Missense_Mutation_p.R859K|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	p.R903K	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			24	2810	+			903			Ig-like C2-type 6.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2708G>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	34	5.362762	0.95877	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000030	T	0.67524	0.2902	M	0.75777	2.31	0.58432	D	0.999997	B;D;B;D;P;D;P;P;B;B	0.56287	0.26;0.959;0.176;0.975;0.854;0.975;0.785;0.82;0.26;0.389	P;D;P;D;D;D;D;D;P;P	0.79784	0.711;0.993;0.623;0.982;0.98;0.976;0.981;0.992;0.511;0.744	T	0.68025	-0.5518	10	0.62326	D	0.03	.	19.9379	0.97147	0.0:0.0:1.0:0.0	.	866;873;903;885;872;859;885;903;910;910	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	K	859;903;903;903;872;871;910;916;885;885;866;873;910;786;903	ENSP00000448175:R859K;ENSP00000400908:R903K;ENSP00000388989:R903K;ENSP00000353822:R903K;ENSP00000376665:R872K;ENSP00000447362:R871K;ENSP00000354845:R910K;ENSP00000447660:R916K;ENSP00000447900:R885K;ENSP00000440034:R885K;ENSP00000446128:R866K;ENSP00000442847:R873K;ENSP00000354849:R910K;ENSP00000447116:R786K;ENSP00000449702:R903K	ENSP00000353822:R903K	R	+	2	0	MYBPC1	100591451	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.354000	0.97083	2.710000	0.92621	0.555000	0.69702	AGG		0.388	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			44	187	0	0	0	0	44	187				
TCHP	84260	broad.mit.edu	37	12	110345367	110345367	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:110345367G>A	ENST00000312777.5	+	6	776	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	TCHP_ENST00000405876.4_Missense_Mutation_p.E188K	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CAAACGGTATGAAAATGAATA	0.507																																						uc001tpn.2		NA																	0				skin(1)	1						c.(562-564)GAA>AAA		trichoplein							82.0	91.0	88.0					12																	110345367		2203	4300	6503	SO:0001583	missense	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110345367G>A	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.562G>A	12.37:g.110345367G>A	ENSP00000324404:p.Glu188Lys					TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.E188K	p.E188K	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN			6	715	+			188			Glu-rich.|Interaction with keratin proteins.|Potential.			Missense_Mutation	SNP	ENST00000312777.5	37	c.562G>A	CCDS9137.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768381	0.69878	.	.	ENSG00000139437	ENST00000405876;ENST00000536868;ENST00000312777	T;T	0.10005	2.92;2.92	4.95	4.95	0.65309	.	0.168805	0.52532	D	0.000076	T	0.32526	0.0832	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02404	-1.1164	10	0.32370	T	0.25	-13.5716	15.7529	0.78001	0.0:0.0:1.0:0.0	.	188	Q9BT92	TCHP_HUMAN	K	188	ENSP00000384520:E188K;ENSP00000324404:E188K	ENSP00000324404:E188K	E	+	1	0	TCHP	108829750	1.000000	0.71417	0.671000	0.29857	0.115000	0.19883	8.167000	0.89668	2.313000	0.78055	0.505000	0.49811	GAA		0.507	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300		8	104	0	0	0	0	8	104				
TCTN2	79867	broad.mit.edu	37	12	124172678	124172678	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:124172678G>C	ENST00000303372.5	+	7	973	c.845G>C	c.(844-846)gGa>gCa	p.G282A	TCTN2_ENST00000426174.2_Missense_Mutation_p.G281A	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	282					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TACAAACAAGGAGATCCCATT	0.353																																						uc001ufp.2		NA																	0				ovary(1)	1						c.(844-846)GGA>GCA		tectonic family member 2 isoform 1							124.0	128.0	127.0					12																	124172678		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124172678G>C	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.845G>C	12.37:g.124172678G>C	ENSP00000304941:p.Gly282Ala					TCTN2_uc009zya.2_Missense_Mutation_p.G281A	p.G282A	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	7	973	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		282			Extracellular (Potential).		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.845G>C	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.117229	0.77323	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.87491	-2.26;-2.26	5.6	4.7	0.59300	Domain of unknown function DUF1619 (1);	0.000000	0.85682	D	0.000000	D	0.93449	0.7910	M	0.84846	2.72	0.44129	D	0.99691	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.93961	0.7240	10	0.87932	D	0	-26.7015	13.2964	0.60298	0.0748:0.0:0.9252:0.0	.	281;282	A8K7Y8;Q96GX1	.;TECT2_HUMAN	A	281;282	ENSP00000395171:G281A;ENSP00000304941:G282A	ENSP00000304941:G282A	G	+	2	0	TCTN2	122738631	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.027000	0.64109	2.651000	0.90000	0.639000	0.83563	GGA		0.353	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		14	102	0	0	0	0	14	102				
TRIM13	10206	broad.mit.edu	37	13	50586806	50586806	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr13:50586806G>C	ENST00000378182.3	+	2	1468	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	TRIM13_ENST00000457662.2_Missense_Mutation_p.E244Q|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000356017.4_Missense_Mutation_p.E247Q|TRIM13_ENST00000420995.2_Missense_Mutation_p.E244Q|KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000298772.5_Missense_Mutation_p.E247Q	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	244					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AGATGTGTCAGAACCCATTGT	0.423																																						uc001vdq.1		NA																	0				ovary(2)	2						c.(730-732)GAA>CAA		ret finger protein 2 isoform 1							79.0	76.0	77.0					13																	50586806		2203	4300	6503	SO:0001583	missense	10206				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50586806G>C	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.730G>C	13.37:g.50586806G>C	ENSP00000367424:p.Glu244Gln					DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_5'Flank|KCNRG_uc001vdu.2_5'Flank|TRIM13_uc001vdp.1_Missense_Mutation_p.E247Q|TRIM13_uc001vdr.1_Missense_Mutation_p.E244Q|TRIM13_uc001vds.1_Missense_Mutation_p.E244Q	p.E244Q	NM_052811	NP_434698	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	3	1043	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	244					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	c.730G>C	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594808	0.66219	.	.	ENSG00000204977	ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T	0.25749	2.25;1.78;1.78;2.32;1.78;2.32	5.61	5.61	0.85477	.	0.119977	0.64402	D	0.000010	T	0.37128	0.0992	L	0.27053	0.805	0.49798	D	0.999823	D;D	0.67145	0.993;0.996	P;P	0.62298	0.796;0.9	T	0.03514	-1.1029	9	.	.	.	-7.5921	19.6202	0.95653	0.0:0.0:1.0:0.0	.	244;247	O60858;O60858-3	TRI13_HUMAN;.	Q	244;244;244;247;244;247	ENSP00000367425:E244Q;ENSP00000412943:E244Q;ENSP00000367424:E244Q;ENSP00000348299:E247Q;ENSP00000399206:E244Q;ENSP00000298772:E247Q	.	E	+	1	0	TRIM13	49484807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.624000	0.88883	0.655000	0.94253	GAA		0.423	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		4	53	0	0	0	0	4	53				
OR4N2	390429	broad.mit.edu	37	14	20296393	20296393	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr14:20296393C>T	ENST00000315947.1	+	1	786	c.786C>T	c.(784-786)ttC>ttT	p.F262F	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGCGCCCCTTCAGGGCTTTCC	0.458																																						uc010tkv.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(784-786)TTC>TTT		olfactory receptor, family 4, subfamily N,							101.0	107.0	105.0					14																	20296393		2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296393C>T		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.786C>T	14.37:g.20296393C>T							p.F262F	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	786	+	all_cancers(95;0.00108)		262			Extracellular (Potential).		Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.786C>T	CCDS32022.1																																																																																				0.458	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			15	93	0	0	0	0	15	93				
PRKD1	5587	broad.mit.edu	37	14	30107997	30107997	+	Silent	SNP	C	C	T	rs144272752	byFrequency	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr14:30107997C>T	ENST00000331968.5	-	5	1039	c.810G>A	c.(808-810)ccG>ccA	p.P270P	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Silent_p.P278P	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	270					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAAATGTGTGCGGCACTTTAA	0.468																																						uc001wqh.2		NA																	0		p.P270L(1)		lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(808-810)CCG>CCA		protein kinase D1		T		0,4406		0,0,2203	97.0	91.0	93.0		810	-10.5	0.7	14	dbSNP_134	93	6,8594	5.7+/-21.5	0,6,4294	no	coding-synonymous	PRKD1	NM_002742.2		0,6,6497	TT,TC,CC		0.0698,0.0,0.0461		270/913	30107997	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30107997C>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.810G>A	14.37:g.30107997C>T							p.P270P	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	5	991	-	Hepatocellular(127;0.0604)		270			Phorbol-ester/DAG-type 2.		A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.810G>A	CCDS9637.1																																																																																				0.468	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		8	44	0	0	0	0	8	44				
VIPAS39	63894	broad.mit.edu	37	14	77901690	77901690	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr14:77901690C>A	ENST00000553888.1	-	14	1469	c.959G>T	c.(958-960)cGa>cTa	p.R320L	VIPAS39_ENST00000556412.1_Missense_Mutation_p.R346L|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R307L|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R320L|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R271L|VIPAS39_ENST00000557658.1_Missense_Mutation_p.R320L	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	320					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.R320Q(1)									GGGGTGCTTTCGGAAGATCTC	0.463																																						uc001xtt.1		NA																	1	Substitution - Missense(1)		kidney(1)	central_nervous_system(1)	1						c.(958-960)CGA>CTA		hypothetical protein LOC63894							157.0	146.0	149.0					14																	77901690		2203	4300	6503	SO:0001583	missense	63894				endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding	g.chr14:77901690C>A	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.959G>T	14.37:g.77901690C>A	ENSP00000452181:p.Arg320Leu					VIPAR_uc001xtu.1_Missense_Mutation_p.R320L|VIPAR_uc010tvj.1_Missense_Mutation_p.R271L|VIPAR_uc001xtv.1_Missense_Mutation_p.R320L	p.R320L	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN			15	1297	-			320					B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.959G>T	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.629031	0.87560	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.51	5.51	0.81932	.	0.118551	0.64402	D	0.000019	T	0.54398	0.1856	L	0.43152	1.355	0.58432	D	0.999994	P;P	0.51240	0.911;0.943	P;P	0.51615	0.488;0.675	T	0.51934	-0.8642	10	0.45353	T	0.12	-11.2978	18.9835	0.92763	0.0:1.0:0.0:0.0	.	271;320	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	L	320;320;307;320;271;346	ENSP00000339122:R320L;ENSP00000452181:R320L;ENSP00000313098:R307L;ENSP00000452191:R320L;ENSP00000404815:R271L;ENSP00000451857:R346L	ENSP00000313098:R307L	R	-	2	0	VIPAR	76971443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.254000	0.51477	2.588000	0.87417	0.655000	0.94253	CGA		0.463	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		9	106	1	0	3.07e-06	1.19e-05	9	106				
MKRN3	7681	broad.mit.edu	37	15	23811808	23811808	+	Missense_Mutation	SNP	C	C	G	rs574252962		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr15:23811808C>G	ENST00000314520.3	+	1	1355	c.879C>G	c.(877-879)caC>caG	p.H293Q	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	293	Makorin-type Cys-His.				protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTGAAGCACACGAGAAAGATA	0.532																																						uc001ywh.3		NA																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(877-879)CAC>CAG		makorin ring finger protein 3							100.0	93.0	96.0					15																	23811808		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811808C>G	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.879C>G	15.37:g.23811808C>G	ENSP00000313881:p.His293Gln					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.H293Q	p.H293Q	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1355	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	293			Makorin-type Cys-His.			Missense_Mutation	SNP	ENST00000314520.3	37	c.879C>G	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619593	0.28801	.	.	ENSG00000179455	ENST00000314520	T	0.36699	1.24	4.07	-1.27	0.09347	.	0.051545	0.85682	D	0.000000	T	0.52158	0.1717	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.50101	-0.8867	10	0.49607	T	0.09	-12.68	8.6467	0.34009	0.0:0.5182:0.0:0.4818	.	293	Q13064	MKRN3_HUMAN	Q	293	ENSP00000313881:H293Q	ENSP00000313881:H293Q	H	+	3	2	MKRN3	21362901	0.016000	0.18221	0.272000	0.24630	0.027000	0.11550	-1.022000	0.03611	-0.217000	0.10033	-0.345000	0.07892	CAC		0.532	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		3	38	0	0	0	0	3	38				
GLYR1	84656	broad.mit.edu	37	16	4861236	4861236	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:4861236G>T	ENST00000321919.9	-	15	1598	c.1522C>A	c.(1522-1524)Cgc>Agc	p.R508S	GLYR1_ENST00000381983.3_Missense_Mutation_p.R491S|GLYR1_ENST00000591451.1_Missense_Mutation_p.R502S|GLYR1_ENST00000436648.5_Missense_Mutation_p.R427S	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	508					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ATGGCTAAGCGGAGATCCTTC	0.507																																						uc002cxx.3		NA																	0					0						c.(1522-1524)CGC>AGC		cytokine-like nuclear factor n-pac							159.0	145.0	150.0					16																	4861236		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4861236G>T	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1522C>A	16.37:g.4861236G>T	ENSP00000322716:p.Arg508Ser					GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.R422S|GLYR1_uc002cya.2_Missense_Mutation_p.R502S|GLYR1_uc010uxv.1_Missense_Mutation_p.R427S	p.R508S	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN			15	1559	-			508					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.1522C>A	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838279	0.51057	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.30714	1.52;1.52;1.52	5.72	3.59	0.41128	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.043589	0.85682	D	0.000000	T	0.40522	0.1120	M	0.75085	2.285	0.80722	D	1	P;P;P;D	0.59767	0.793;0.9;0.692;0.986	B;P;B;P	0.50537	0.186;0.537;0.222;0.643	T	0.40739	-0.9547	10	0.72032	D	0.01	-9.9412	8.59	0.33682	0.0841:0.0:0.6846:0.2313	.	427;502;491;508	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	S	508;491;427	ENSP00000322716:R508S;ENSP00000371413:R491S;ENSP00000390276:R427S	ENSP00000322716:R508S	R	-	1	0	GLYR1	4801237	1.000000	0.71417	0.983000	0.44433	0.687000	0.40016	4.673000	0.61604	1.437000	0.47472	-0.215000	0.12644	CGC		0.507	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		14	130	1	0	2e-07	7.85e-07	14	130				
MYH11	4629	broad.mit.edu	37	16	15826519	15826519	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:15826519C>T	ENST00000300036.5	-	27	3662	c.3553G>A	c.(3553-3555)Gaa>Aaa	p.E1185K	MYH11_ENST00000396324.3_Missense_Mutation_p.E1192K|MYH11_ENST00000576790.2_Missense_Mutation_p.E1185K|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.E1192K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1185					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCGTCTCTTCATCCAGGGCC	0.592			T	CBFB	AML																																	uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(3553-3555)GAA>AAA		smooth muscle myosin heavy chain 11 isoform							189.0	137.0	155.0					16																	15826519		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15826519C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3553G>A	16.37:g.15826519C>T	ENSP00000300036:p.Glu1185Lys					MYH11_uc002ddv.2_Missense_Mutation_p.E1192K|MYH11_uc002ddw.2_Missense_Mutation_p.E1185K|MYH11_uc002ddx.2_Missense_Mutation_p.E1192K|MYH11_uc010bvg.2_Missense_Mutation_p.E1017K	p.E1185K	NM_002474	NP_002465	P35749	MYH11_HUMAN			27	3660	-			1185			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.3553G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	35	5.510221	0.96386	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	4.94	4.94	0.65067	Myosin tail (1);	0.183874	0.46758	D	0.000270	D	0.92554	0.7635	M	0.91818	3.245	0.80722	D	1	P;D;D;D;P	0.58970	0.868;0.984;0.984;0.984;0.78	P;D;D;D;P	0.65573	0.752;0.936;0.936;0.936;0.744	D	0.94301	0.7537	10	0.87932	D	0	.	17.1858	0.86866	0.0:1.0:0.0:0.0	.	1192;1185;1192;1185;1192	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	1185;1185;1192;1192;1192	ENSP00000300036:E1185K;ENSP00000345136:E1185K;ENSP00000379616:E1192K;ENSP00000407821:E1192K	ENSP00000300036:E1185K	E	-	1	0	MYH11	15734020	1.000000	0.71417	0.991000	0.47740	0.923000	0.55619	7.818000	0.86416	2.295000	0.77249	0.462000	0.41574	GAA		0.592	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		10	108	0	0	0	0	10	108				
SRCAP	10847	broad.mit.edu	37	16	30721369	30721369	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:30721369C>G	ENST00000262518.4	+	8	1439	c.1054C>G	c.(1054-1056)Caa>Gaa	p.Q352E	SRCAP_ENST00000395059.2_Missense_Mutation_p.Q352E|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q352E|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	352	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGCCCCTCTCAAACCCCCTC	0.577																																						uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(1054-1056)CAA>GAA		Snf2-related CBP activator protein							56.0	51.0	53.0					16																	30721369		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30721369C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1054C>G	16.37:g.30721369C>G	ENSP00000262518:p.Gln352Glu					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.Q209E|SRCAP_uc010bzz.1_5'UTR|SNORA30_uc002dzh.1_5'Flank	p.Q352E	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		8	1439	+			352			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1054C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	8.060	0.767950	0.15983	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90197	-2.62;-2.62;-2.63	5.39	2.32	0.28847	.	0.731194	0.12797	N	0.438314	T	0.79782	0.4505	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.002	T	0.60984	-0.7154	10	0.02654	T	1	3.9548	7.8983	0.29719	0.2176:0.5275:0.2549:0.0	.	352;352	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	E	352	ENSP00000262518:Q352E;ENSP00000378499:Q352E;ENSP00000343042:Q352E	ENSP00000262518:Q352E	Q	+	1	0	SRCAP	30628870	0.002000	0.14202	0.020000	0.16555	0.953000	0.61014	1.072000	0.30678	0.331000	0.23511	0.655000	0.94253	CAA		0.577	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		4	29	0	0	0	0	4	29				
GAS8	2622	broad.mit.edu	37	16	90097737	90097737	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:90097737G>C	ENST00000268699.4	+	3	243	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	GAS8_ENST00000540721.1_3'UTR|C16orf3_ENST00000408886.2_5'Flank|GAS8_ENST00000536122.1_Missense_Mutation_p.E16Q	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	41	Regulates microtubule-binding. {ECO:0000250}.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CATCCGGGAGGAGCTGGACCG	0.647																																						uc002fqi.1		NA																	0				ovary(1)	1						c.(121-123)GAG>CAG		growth arrest-specific 8							69.0	64.0	66.0					16																	90097737		2198	4300	6498	SO:0001583	missense	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90097737G>C	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.121G>C	16.37:g.90097737G>C	ENSP00000268699:p.Glu41Gln					GAS8_uc010vps.1_Missense_Mutation_p.E16Q|GAS8_uc002fqh.2_5'UTR|GAS8_uc010vpt.1_Missense_Mutation_p.E41Q|GAS8_uc010vpu.1_5'UTR|GAS8_uc010vpv.1_Missense_Mutation_p.E12Q|GAS8_uc010cjc.1_5'UTR|GAS8_uc010vpw.1_5'UTR|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	p.E41Q	NM_001481	NP_001472	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	3	243	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	41			Regulates microtubule-binding (By similarity).		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.121G>C	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396403	0.62177	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721;ENST00000537797	T;T	0.37235	1.23;1.21	5.88	5.88	0.94601	.	0.043821	0.85682	D	0.000000	T	0.63355	0.2504	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.85130	0.997;0.97;0.84	T	0.60239	-0.7302	9	.	.	.	-42.3729	20.2366	0.98359	0.0:0.0:1.0:0.0	.	12;41;41	B7Z1X3;B7Z9B0;O95995	.;.;GAS8_HUMAN	Q	16;41;12;41	ENSP00000440977:E16Q;ENSP00000268699:E41Q	.	E	+	1	0	GAS8	88625238	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.629000	0.98417	2.792000	0.96026	0.557000	0.71058	GAG		0.647	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			3	51	0	0	0	0	3	51				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	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		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	p.R248W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	60	0	0	0	0	13	60				
KIAA0100	9703	broad.mit.edu	37	17	26962166	26962166	+	Silent	SNP	C	C	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:26962166C>A	ENST00000528896.2	-	16	2513	c.2439G>T	c.(2437-2439)cgG>cgT	p.R813R	KIAA0100_ENST00000544884.1_Silent_p.R670R|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.R670R	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	813						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAACACGGTTCCGGAGGGTCT	0.527																																						uc002hbu.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2437-2439)CGG>CGT		hypothetical protein LOC9703 precursor							117.0	134.0	128.0					17																	26962166		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26962166C>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2439G>T	17.37:g.26962166C>A							p.R813R	NM_014680	NP_055495	Q14667	K0100_HUMAN			16	2538	-	Lung NSC(42;0.00431)		813					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.2439G>T	CCDS32595.1																																																																																				0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		15	144	1	0	1.52e-12	6.05e-12	15	144				
SLFN11	91607	broad.mit.edu	37	17	33680115	33680115	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:33680115T>A	ENST00000394566.1	-	7	2238	c.1966A>T	c.(1966-1968)Aga>Tga	p.R656*	SLFN11_ENST00000308377.4_Nonsense_Mutation_p.R656*	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	656					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGTTTTCTCTTAGGAAAGTT	0.398																																						uc010ctp.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1966-1968)AGA>TGA		schlafen family member 11							94.0	92.0	93.0					17																	33680115		2203	4300	6503	SO:0001587	stop_gained	91607					nucleus	ATP binding	g.chr17:33680115T>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1966A>T	17.37:g.33680115T>A	ENSP00000378067:p.Arg656*					SLFN11_uc010ctq.2_Nonsense_Mutation_p.R656*|SLFN11_uc002hjh.3_Nonsense_Mutation_p.R656*|SLFN11_uc002hjg.3_Nonsense_Mutation_p.R656*|SLFN11_uc010ctr.2_Nonsense_Mutation_p.R656*	p.R656*	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2408	-		Ovarian(249;0.17)	656					E1P643|Q8N3S8|Q8N762|Q8TEE0	Nonsense_Mutation	SNP	ENST00000394566.1	37	c.1966A>T	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	t	38	7.150853	0.98096	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	.	.	.	4.0	2.91	0.33838	.	1.193830	0.06126	N	0.669661	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	6.2331	0.20747	0.0:0.1158:0.0:0.8842	.	.	.	.	X	656	.	ENSP00000312402:R656X	R	-	1	2	SLFN11	30704228	0.003000	0.15002	0.879000	0.34478	0.004000	0.04260	0.214000	0.17541	0.686000	0.31488	0.533000	0.62120	AGA		0.398	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		11	101	0	0	0	0	11	101				
DDX52	11056	broad.mit.edu	37	17	36002253	36002253	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:36002253C>T	ENST00000349699.2	-	2	215	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	RP11-697E22.2_ENST00000586163.1_RNA|DDX52_ENST00000394367.3_De_novo_Start_OutOfFrame|RP11-697E22.2_ENST00000586950.1_RNA	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	58						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GCTCCACACACACCTGGGACA	0.413																																						uc002hoi.1		NA																	0				ovary(1)|skin(1)	2						c.(172-174)GTG>ATG		ATP-dependent RNA helicase ROK1 isoform a							124.0	122.0	123.0					17																	36002253		2203	4300	6503	SO:0001583	missense	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:36002253C>T	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.172G>A	17.37:g.36002253C>T	ENSP00000268854:p.Val58Met					DDX52_uc002hoh.1_Translation_Start_Site|DDX52_uc002hoj.1_Translation_Start_Site	p.V58M	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN			2	210	-		Breast(25;0.00637)|Ovarian(249;0.15)	58					Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	c.172G>A	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472384	0.26423	.	.	ENSG00000141141	ENST00000349699	T	0.14144	2.53	5.17	4.2	0.49525	.	1.405580	0.04254	N	0.339084	T	0.13157	0.0319	N	0.22421	0.69	0.80722	D	1	B	0.31153	0.31	B	0.32805	0.153	T	0.04017	-1.0984	10	0.48119	T	0.1	.	9.6487	0.39883	0.0:0.9037:0.0:0.0963	.	58	Q9Y2R4	DDX52_HUMAN	M	58	ENSP00000268854:V58M	ENSP00000268854:V58M	V	-	1	0	DDX52	33076366	0.026000	0.19158	0.884000	0.34674	0.359000	0.29487	0.843000	0.27640	1.310000	0.45006	0.491000	0.48974	GTG		0.413	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		12	76	0	0	0	0	12	76				
KIF18B	146909	broad.mit.edu	37	17	43005428	43005428	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:43005428C>G	ENST00000593135.1	-	13	2339	c.2242G>C	c.(2242-2244)Gag>Cag	p.E748Q	KIF18B_ENST00000438933.2_Missense_Mutation_p.E760Q|KIF18B_ENST00000587309.1_Missense_Mutation_p.E760Q|KIF18B_ENST00000339151.4_Missense_Mutation_p.E751Q|KIF18B_ENST00000590129.1_Missense_Mutation_p.E769Q	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	760	KIF2C-binding.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTGCTCAGCTCCTGGGGTATT	0.577																																						uc010wji.1		NA																	0				ovary(2)	2						c.(2251-2253)GAG>CAG		kinesin family member 18B							26.0	28.0	27.0					17																	43005428		1936	4142	6078	SO:0001583	missense	146909							g.chr17:43005428C>G		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2242G>C	17.37:g.43005428C>G	ENSP00000465992:p.Glu748Gln					KIF18B_uc002iht.2_Missense_Mutation_p.E760Q|KIF18B_uc010wjh.1_Missense_Mutation_p.E748Q	p.E751Q	NM_001080443	NP_001073912					13	2352	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.2251G>C	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116201	0.37339	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.73363	-0.73;-0.74	4.54	1.21	0.21127	.	.	.	.	.	T	0.68476	0.3005	M	0.63428	1.95	0.09310	N	1	P;P;P	0.50272	0.89;0.867;0.933	B;B;P	0.44359	0.261;0.277;0.447	T	0.56129	-0.8030	9	0.23891	T	0.37	.	6.7167	0.23308	0.0:0.5526:0.3491:0.0982	.	760;757;769	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	Q	760;751;760	ENSP00000412798:E760Q;ENSP00000341466:E751Q	ENSP00000341466:E751Q	E	-	1	0	KIF18B	40360954	0.000000	0.05858	0.677000	0.29947	0.828000	0.46876	-0.504000	0.06375	0.290000	0.22444	0.561000	0.74099	GAG		0.577	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		3	32	0	0	0	0	3	32				
TMC8	147138	broad.mit.edu	37	17	76128900	76128900	+	Silent	SNP	G	G	T	rs150261314	byFrequency	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:76128900G>T	ENST00000318430.5	+	5	854	c.480G>T	c.(478-480)ccG>ccT	p.P160P	TMC8_ENST00000589691.1_5'UTR|TMC6_ENST00000322914.3_5'Flank	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	160					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCCAGTCCCCGCCTGGCGTTT	0.597																																						uc002jup.2		NA																	0					0						c.(478-480)CCG>CCT		transmembrane channel-like 8							106.0	108.0	107.0					17																	76128900		2203	4300	6503	SO:0001819	synonymous_variant	147138	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76128900G>T	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.480G>T	17.37:g.76128900G>T						TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	p.P160P	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		5	862	+			160			Lumenal (Potential).		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	37	c.480G>T	CCDS32749.1																																																																																				0.597	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			6	102	1	0	0.000157383	0.000592107	6	102				
UHRF1	29128	broad.mit.edu	37	19	4910937	4910937	+	RNA	SNP	C	C	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:4910937C>A	ENST00000592666.1	+	0	616							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGGCAGACCCACACGGTGGA	0.612											OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mbo.2		NA																	0				lung(2)	2						c.(40-42)CAC>AAC		ubiquitin-like with PHD and ring finger domains							83.0	95.0	91.0					19																	4910937		2079	4205	6284			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4910937C>A	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4910937C>A			OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	uc002mbn.1_5'Flank|UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.H27N	p.H14N	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	2	208	+			14			Ubiquitin-like.		A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Missense_Mutation	SNP	ENST00000592666.1	37	c.40C>A		.	.	.	.	.	.	.	.	.	.	C	15.01	2.706199	0.48412	.	.	ENSG00000034063	ENST00000262952;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.89	3.86	0.44501	Ubiquitin supergroup (1);Ubiquitin (2);	0.183072	0.47455	D	0.000234	T	0.66167	0.2762	L	0.47016	1.485	0.44366	D	0.997261	D;P	0.69078	0.997;0.853	D;P	0.79108	0.992;0.568	T	0.68284	-0.5449	8	0.22706	T	0.39	-22.9389	12.433	0.55584	0.0:0.918:0.0:0.082	.	27;14	Q2HIX7;Q96T88	.;UHRF1_HUMAN	N	14;14;14;27	.	ENSP00000262952:H14N	H	+	1	0	UHRF1	4861937	1.000000	0.71417	0.944000	0.38274	0.569000	0.35902	5.731000	0.68554	1.064000	0.40671	0.462000	0.41574	CAC		0.612	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		6	134	1	0	0.00198382	0.00728581	6	134				
KLF1	10661	broad.mit.edu	37	19	12997871	12997871	+	Silent	SNP	G	G	A	rs371571179		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:12997871G>A	ENST00000264834.4	-	1	124	c.84C>T	c.(82-84)ctC>ctT	p.L28L	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	28	Pro-rich.				cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCACCTTGAGGAAGTCAT	0.622																																						uc002mvo.2		NA																	0					0						c.(82-84)CTC>CTT		erythroid Kruppel-like factor							94.0	88.0	90.0					19																	12997871		2203	4300	6503	SO:0001819	synonymous_variant	10661				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:12997871G>A	U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6345	protein-coding gene	gene with protein product	"""erythroid Kruppel-like factor"""	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.84C>T	19.37:g.12997871G>A							p.L28L	NM_006563	NP_006554	Q13351	KLF1_HUMAN		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)	1	147	-		Hepatocellular(1079;0.137)	28			Pro-rich.		Q6PIJ5|Q92899	Silent	SNP	ENST00000264834.4	37	c.84C>T	CCDS12285.1																																																																																				0.622	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451794.1	NM_006563		7	59	0	0	0	0	7	59				
UQCRFS1	7386	broad.mit.edu	37	19	29698963	29698963	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:29698963C>G	ENST00000304863.4	-	2	739	c.317G>C	c.(316-318)aGc>aCc	p.S106T		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	106					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			AGCCTCGCTGCTTTCTCTTGA	0.478																																						uc002nsd.2		NA																	0					0						c.(316-318)AGC>ACC		ubiquinol-cytochrome c reductase, Rieske							104.0	82.0	89.0					19																	29698963		2203	4300	6503	SO:0001583	missense	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698963C>G	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.317G>C	19.37:g.29698963C>G	ENSP00000306397:p.Ser106Thr						p.S106T	NM_006003	NP_005994	P47985	UCRI_HUMAN	Lung(7;0.092)		2	428	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		106					A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	c.317G>C	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	C	8.400	0.841771	0.16963	.	.	ENSG00000169021	ENST00000304863	T	0.44881	0.91	5.42	5.42	0.78866	Ubiquinol cytochrome reductase, transmembrane domain (3);	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	M	0.62088	1.915	0.80722	D	1	B	0.22003	0.063	B	0.25614	0.062	T	0.30446	-0.9978	10	0.22109	T	0.4	.	18.2067	0.89857	0.0:1.0:0.0:0.0	.	106	P47985	UCRI_HUMAN	T	106	ENSP00000306397:S106T	ENSP00000306397:S106T	S	-	2	0	UQCRFS1	34390803	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	4.533000	0.60615	2.540000	0.85666	0.462000	0.41574	AGC		0.478	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		3	115	0	0	0	0	3	115				
YIF1B	90522	broad.mit.edu	37	19	38799436	38799436	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:38799436C>T	ENST00000339413.6	-	5	580	c.535G>A	c.(535-537)Gat>Aat	p.D179N	YIF1B_ENST00000587361.1_5'Flank|YIF1B_ENST00000592246.1_Missense_Mutation_p.D113N|YIF1B_ENST00000591755.1_Missense_Mutation_p.D176N|YIF1B_ENST00000392124.3_Missense_Mutation_p.D148N|YIF1B_ENST00000592694.1_Missense_Mutation_p.D148N|YIF1B_ENST00000337679.8_Missense_Mutation_p.D176N|YIF1B_ENST00000591784.1_Missense_Mutation_p.D148N|YIF1B_ENST00000329420.8_Missense_Mutation_p.D164N	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	179						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTTACCTATCCTGGGTCCCC	0.567																																						uc002ohz.2		NA																	0					0						c.(535-537)GAT>AAT		Yip1 interacting factor homolog B isoform 5							169.0	174.0	173.0					19																	38799436		2203	4300	6503	SO:0001583	missense	90522					integral to membrane		g.chr19:38799436C>T	AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.535G>A	19.37:g.38799436C>T	ENSP00000343435:p.Asp179Asn					YIF1B_uc002ohw.2_Missense_Mutation_p.D148N|YIF1B_uc002ohx.2_Missense_Mutation_p.D164N|YIF1B_uc010xtx.1_Missense_Mutation_p.D162N|YIF1B_uc010xty.1_Missense_Mutation_p.D148N|YIF1B_uc002oia.2_Missense_Mutation_p.D176N|YIF1B_uc002ohy.2_Missense_Mutation_p.D176N|YIF1B_uc002oib.2_Missense_Mutation_p.D176N	p.D179N	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		5	584	-	all_cancers(60;1.07e-06)		179			Extracellular (Potential).		H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Missense_Mutation	SNP	ENST00000339413.6	37	c.535G>A	CCDS33010.1	.	.	.	.	.	.	.	.	.	.	C	7.273	0.607588	0.14002	.	.	ENSG00000167645	ENST00000339413;ENST00000329420;ENST00000392124;ENST00000337679	T;T;T;T	0.53423	1.05;1.05;1.05;0.62	4.69	4.69	0.59074	.	0.115091	0.64402	D	0.000020	T	0.19846	0.0477	N	0.01817	-0.705	0.37928	D	0.931926	B;B;B;B;B	0.12013	0.005;0.001;0.005;0.002;0.001	B;B;B;B;B	0.14023	0.006;0.01;0.007;0.007;0.003	T	0.14420	-1.0473	10	0.23302	T	0.38	.	8.8731	0.35327	0.0:0.8971:0.0:0.1029	.	148;176;176;179;176	Q5BJH7-2;Q5BJH7-5;Q5BJH7-4;Q5BJH7;Q5BJH7-3	.;.;.;YIF1B_HUMAN;.	N	179;164;148;176	ENSP00000343435:D179N;ENSP00000329559:D164N;ENSP00000375971:D148N;ENSP00000337411:D176N	ENSP00000329559:D164N	D	-	1	0	YIF1B	43491276	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.224000	0.42945	2.162000	0.67917	0.455000	0.32223	GAT		0.567	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1	NM_033557		9	248	0	0	0	0	9	248				
GLTSCR2	29997	broad.mit.edu	37	19	48253511	48253511	+	Silent	SNP	C	C	G	rs148201586		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:48253511C>G	ENST00000246802.5	+	3	404	c.366C>G	c.(364-366)ctC>ctG	p.L122L	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	122						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACCTCATCCTCGAGAACACAT	0.522																																					Colon(58;613 1041 9473 10089 15241)	uc002phm.2		NA																	0				central_nervous_system(1)	1						c.(364-366)CTC>CTG		glioma tumor suppressor candidate region gene 2							72.0	59.0	63.0					19																	48253511		2203	4300	6503	SO:0001819	synonymous_variant	29997					nucleolus		g.chr19:48253511C>G	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.366C>G	19.37:g.48253511C>G						GLTSCR2_uc002phk.2_Silent_p.L122L|GLTSCR2_uc002phl.2_Silent_p.L122L|GLTSCR2_uc010elj.2_Silent_p.L122L|GLTSCR2_uc010elk.1_5'Flank	p.L122L	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	3	390	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	122					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	c.366C>G	CCDS12705.1																																																																																				0.522	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		3	50	0	0	0	0	3	50				
TSEN34	79042	broad.mit.edu	37	19	54695773	54695773	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:54695773G>A	ENST00000396383.1	+	3	756	c.445G>A	c.(445-447)Gag>Aag	p.E149K	MBOAT7_ENST00000391754.1_5'Flank|TSEN34_ENST00000302937.4_Missense_Mutation_p.E149K|MBOAT7_ENST00000338624.6_5'Flank|MBOAT7_ENST00000431666.2_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA|TSEN34_ENST00000429671.2_Missense_Mutation_p.E149K|MBOAT7_ENST00000245615.1_5'Flank|TSEN34_ENST00000396388.2_Missense_Mutation_p.E149K|MBOAT7_ENST00000474910.1_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	149					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAAAGAGGATGAGACCAGTGA	0.597																																					Esophageal Squamous(37;841 964 4869 42824)	uc002qdu.2		NA																	0					0						c.(445-447)GAG>AAG		tRNA-intron endonuclease 34							45.0	51.0	49.0					19																	54695773		2045	4178	6223	SO:0001583	missense	79042				mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr19:54695773G>A	AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.445G>A	19.37:g.54695773G>A	ENSP00000379667:p.Glu149Lys					MBOAT7_uc002qdq.2_5'Flank|MBOAT7_uc002qdr.2_5'Flank|MBOAT7_uc002qds.2_5'Flank|MBOAT7_uc010yen.1_5'Flank|MBOAT7_uc002qdt.3_5'Flank|TSEN34_uc010yeo.1_Missense_Mutation_p.E149K|TSEN34_uc002qdv.2_Missense_Mutation_p.E149K|TSEN34_uc002qdw.2_Missense_Mutation_p.E149K	p.E149K	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN			3	554	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		149					A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Missense_Mutation	SNP	ENST00000396383.1	37	c.445G>A	CCDS42609.1	.	.	.	.	.	.	.	.	.	.	G	0.825	-0.747172	0.03065	.	.	ENSG00000170892	ENST00000455798;ENST00000456872;ENST00000302937;ENST00000429671;ENST00000396383;ENST00000396388	T;T;T;T;T;T	0.64803	-0.12;-0.11;-0.11;-0.12;-0.11;-0.11	3.8	-0.00795	0.14007	.	1.658760	0.02879	N	0.132589	T	0.52386	0.1731	L	0.47716	1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12656	-1.0539	10	0.16420	T	0.52	.	6.0761	0.19915	0.1116:0.3667:0.5217:0.0	.	149;149	E7EQB3;Q9BSV6	.;SEN34_HUMAN	K	149;152;149;149;149;149	ENSP00000400743:E149K;ENSP00000408689:E152K;ENSP00000305524:E149K;ENSP00000397402:E149K;ENSP00000379667:E149K;ENSP00000379671:E149K	ENSP00000305524:E149K	E	+	1	0	TSEN34	59387585	0.488000	0.25996	0.000000	0.03702	0.057000	0.15508	2.193000	0.42658	0.002000	0.14630	0.561000	0.74099	GAG		0.597	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075		16	69	0	0	0	0	16	69				
EMILIN1	11117	broad.mit.edu	37	2	27306123	27306123	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:27306123C>G	ENST00000380320.4	+	4	2183	c.1684C>G	c.(1684-1686)Ctc>Gtc	p.L562V		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	562					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGCTGAATCTCACTGCGGC	0.642																																						uc002rii.3		NA																	0				pancreas(1)	1						c.(1684-1686)CTC>GTC		elastin microfibril interfacer 1 precursor							31.0	33.0	33.0					2																	27306123		2202	4299	6501	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27306123C>G	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1684C>G	2.37:g.27306123C>G	ENSP00000369677:p.Leu562Val					EMILIN1_uc002rik.3_5'Flank	p.L562V	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			4	2112	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		562					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.1684C>G	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	1.658	-0.512331	0.04200	.	.	ENSG00000138080	ENST00000380320	T	0.63096	-0.02	4.63	3.74	0.42951	.	0.644268	0.15058	N	0.282929	T	0.38321	0.1036	N	0.08118	0	0.27283	N	0.958056	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.15952	T	0.53	-5.7537	10.2626	0.43436	0.0:0.7738:0.2262:0.0	.	562	Q9Y6C2	EMIL1_HUMAN	V	562	ENSP00000369677:L562V	ENSP00000369677:L562V	L	+	1	0	EMILIN1	27159627	0.960000	0.32886	1.000000	0.80357	0.885000	0.51271	1.229000	0.32600	1.153000	0.42468	0.561000	0.74099	CTC		0.642	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		7	51	0	0	0	0	7	51				
SOS1	6654	broad.mit.edu	37	2	39250272	39250272	+	Missense_Mutation	SNP	C	C	T	rs397517147		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:39250272C>T	ENST00000426016.1	-	11	1383	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	SOS1_ENST00000402219.2_Missense_Mutation_p.E433K|SOS1_ENST00000395038.2_Missense_Mutation_p.E433K|SOS1_ENST00000472480.1_5'UTR			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	433			E -> K (in NS4). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:19953625, ECO:0000269|PubMed:21387466}.|Missing (in NS4). {ECO:0000269|PubMed:21387466}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E433K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCTTTTCCCTCCCAACCATCA	0.388									Noonan syndrome																													uc002rrk.3		NA																	1	Substitution - Missense(1)	p.E433K(1)	central_nervous_system(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10	GRCh37	CM070281	SOS1	M		c.(1297-1299)GAG>AAG		son of sevenless homolog 1							113.0	101.0	105.0					2																	39250272		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250272C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1297G>A	2.37:g.39250272C>T	ENSP00000387784:p.Glu433Lys					SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.E47K|SOS1_uc002rrl.2_Missense_Mutation_p.E165K	p.E433K	NM_005633	NP_005624	Q07889	SOS1_HUMAN			10	1338	-		all_hematologic(82;0.21)	433		E -> K (in NS4).			A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1297G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231566	0.79688	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.88741	-2.42;-2.42;-2.42	5.52	5.52	0.82312	Dbl homology (DH) domain (1);	0.000000	0.85682	D	0.000000	D	0.90573	0.7045	M	0.70275	2.135	0.80722	D	1	B;P	0.34615	0.388;0.459	B;B	0.39590	0.304;0.202	D	0.90438	0.4429	10	0.72032	D	0.01	.	19.8	0.96502	0.0:1.0:0.0:0.0	.	165;433	F5GX06;Q07889	.;SOS1_HUMAN	K	433;433;165;433;433	ENSP00000387784:E433K;ENSP00000384675:E433K;ENSP00000378479:E433K	ENSP00000263879:E433K	E	-	1	0	SOS1	39103776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.666000	0.83877	2.753000	0.94483	0.557000	0.71058	GAG		0.388	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		5	78	0	0	0	0	5	78				
RGPD4	285190	broad.mit.edu	37	2	108488225	108488226	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:108488225_108488226GG>AA	ENST00000408999.3	+	20	3842_3843	c.3765_3766GG>AA	c.(3763-3768)agGGaa>agAAaa	p.E1256K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1256K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1256					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTGATTTAAGGGAAGATGCTTT	0.45																																						uc010ywk.1		NA																	0				skin(2)	2						c.(3763-3768)AGGGAA>AGAAAA		RANBP2-like and GRIP domain containing 4																																				SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488225_108488226GG>AA	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	Exception_encountered	2.37:g.108488225_108488226delinsAA	ENSP00000386810:p.Glu1256Lys					RGPD4_uc002tdu.2_Missense_Mutation_p.E443K|RGPD4_uc010ywl.1_Intron	p.E1256K	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			20	3847_3848	+			1256					B9A029	Missense_Mutation	DNP	ENST00000408999.3	37	c.3765_3766GG>AA	CCDS46381.1																																																																																				0.450	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		69	392	0	0	0	0	69	392				
NCKAP5	344148	broad.mit.edu	37	2	133541833	133541833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:133541833C>T	ENST00000409261.1	-	14	2924	c.2551G>A	c.(2551-2553)Gag>Aag	p.E851K	NCKAP5_ENST00000317721.6_Missense_Mutation_p.E851K|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	851										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCTGAGCTCTCAGTCTTCATG	0.537																																						uc002ttp.2		NA																	0					0						c.(2551-2553)GAG>AAG		Nck-associated protein 5 isoform 1							95.0	96.0	96.0					2																	133541833		1913	4127	6040	SO:0001583	missense	344148						protein binding	g.chr2:133541833C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2551G>A	2.37:g.133541833C>T	ENSP00000387128:p.Glu851Lys					NCKAP5_uc002ttq.2_Intron	p.E851K	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	2925	-			851					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2551G>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	12.71	2.020005	0.35606	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10860	2.83;2.83	5.28	3.42	0.39159	.	0.207893	0.23141	U	0.051479	T	0.08088	0.0202	L	0.29908	0.895	0.80722	D	1	P	0.38078	0.617	B	0.37144	0.242	T	0.18999	-1.0319	10	0.56958	D	0.05	.	7.5508	0.27796	0.0:0.6433:0.2608:0.0958	.	851	O14513	NCKP5_HUMAN	K	851	ENSP00000387128:E851K;ENSP00000380603:E851K	ENSP00000380603:E851K	E	-	1	0	NCKAP5	133258303	0.983000	0.35010	0.041000	0.18516	0.215000	0.24574	2.837000	0.48191	1.481000	0.48307	0.651000	0.88453	GAG		0.537	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		8	142	0	0	0	0	8	142				
LZTS3	9762	broad.mit.edu	37	20	3147473	3147473	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr20:3147473C>T	ENST00000329152.3	-	1	1734	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	LZTS3_ENST00000337576.5_Missense_Mutation_p.G113S|LZTS3_ENST00000360342.3_Missense_Mutation_p.G113S			O60299	LZTS3_HUMAN		113						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											ACCACGTTGCCACAGACATCG	0.652																																						uc002wia.1		NA																	0				pancreas(1)	1						c.(337-339)GGC>AGC		ProSAPiP1 protein							80.0	63.0	69.0					20																	3147473		2203	4300	6503	SO:0001583	missense	9762					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr20:3147473C>T																												ENST00000329152.3:c.337G>A	20.37:g.3147473C>T	ENSP00000332123:p.Gly113Ser					ProSAPiP1_uc002wib.1_Missense_Mutation_p.G113S	p.G113S	NM_014731	NP_055546	O60299	PRIP1_HUMAN			1	1735	-			113					A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.337G>A	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886359	0.91814	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.39787	1.16;1.06;1.06	4.66	3.71	0.42584	.	0.444040	0.24262	N	0.040065	T	0.39627	0.1085	L	0.52573	1.65	0.58432	D	0.999999	P;P	0.46142	0.873;0.799	B;B	0.44108	0.441;0.256	T	0.22382	-1.0218	10	0.34782	T	0.22	-22.6284	12.1331	0.53955	0.0:0.9165:0.0:0.0835	.	113;113	O60299-2;O60299	.;PRIP1_HUMAN	S	113	ENSP00000332123:G113S;ENSP00000353496:G113S;ENSP00000338166:G113S	ENSP00000332123:G113S	G	-	1	0	RP5-1187M17.10	3095473	0.975000	0.34042	0.993000	0.49108	0.761000	0.43186	3.621000	0.54210	2.145000	0.66743	0.561000	0.74099	GGC		0.652	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			5	49	0	0	0	0	5	49				
EP300	2033	broad.mit.edu	37	22	41513521	41513521	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr22:41513521G>T	ENST00000263253.7	+	2	1644	c.425G>T	c.(424-426)gGa>gTa	p.G142V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	142	Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCACTAGTGGACCAAATCAG	0.493			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(424-426)GGA>GTA		E1A binding protein p300							73.0	64.0	67.0					22																	41513521		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41513521G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.425G>T	22.37:g.41513521G>T	ENSP00000263253:p.Gly142Val						p.G142V	NM_001429	NP_001420	Q09472	EP300_HUMAN			2	820	+			142					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.425G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612827	0.66672	.	.	ENSG00000100393	ENST00000263253	D	0.83914	-1.78	6.17	6.17	0.99709	.	0.000000	0.47852	D	0.000211	D	0.91112	0.7202	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.89304	0.3628	10	0.46703	T	0.11	-5.7151	20.8794	0.99867	0.0:0.0:1.0:0.0	.	142	Q09472	EP300_HUMAN	V	142	ENSP00000263253:G142V	ENSP00000263253:G142V	G	+	2	0	EP300	39843467	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.331000	0.79192	2.941000	0.99782	0.655000	0.94253	GGA		0.493	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		6	40	1	0	5.94e-07	2.32e-06	6	40				
PKDREJ	10343	broad.mit.edu	37	22	46656522	46656522	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr22:46656522T>C	ENST00000253255.5	-	1	2697	c.2698A>G	c.(2698-2700)Aat>Gat	p.N900D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	900	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGGGACCATTTGCAGACAGA	0.403																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(2698-2700)AAT>GAT		receptor for egg jelly-like protein precursor							95.0	97.0	96.0					22																	46656522		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46656522T>C	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2698A>G	22.37:g.46656522T>C	ENSP00000253255:p.Asn900Asp						p.N900D	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	2698	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	900			Extracellular (Potential).|REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.2698A>G	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	2.916	-0.224293	0.06061	.	.	ENSG00000130943	ENST00000253255	T	0.29917	1.55	5.33	2.85	0.33270	Egg jelly receptor, REJ-like (1);	1.058800	0.07314	N	0.876405	T	0.21881	0.0527	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.36311	-0.9753	10	0.07325	T	0.83	-3.6647	5.0245	0.14378	0.0:0.3822:0.0:0.6178	.	900	Q9NTG1	PKDRE_HUMAN	D	900	ENSP00000253255:N900D	ENSP00000253255:N900D	N	-	1	0	PKDREJ	45035186	0.001000	0.12720	0.005000	0.12908	0.003000	0.03518	0.811000	0.27198	0.969000	0.38237	-0.290000	0.09829	AAT		0.403	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		12	91	0	0	0	0	12	91				
TGFBR2	7048	broad.mit.edu	37	3	30691947	30691947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr3:30691947C>G	ENST00000295754.5	+	3	831	c.449C>G	c.(448-450)tCa>tGa	p.S150*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S175*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	150					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCATCTTCTCAGAAGGTGAG	0.433																																						uc003ceo.2		NA																	0				pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(448-450)TCA>TGA		transforming growth factor, beta receptor II							109.0	100.0	103.0					3																	30691947		2203	4300	6503	SO:0001587	stop_gained	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30691947C>G		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.449C>G	3.37:g.30691947C>G	ENSP00000295754:p.Ser150*					TGFBR2_uc003cen.2_Nonsense_Mutation_p.S175*	p.S150*	NM_003242	NP_003233	P37173	TGFR2_HUMAN			3	831	+			150			Extracellular (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	c.449C>G	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	40	8.506241	0.98841	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000383765;ENST00000439925	.	.	.	5.97	5.09	0.68999	.	0.571104	0.19372	N	0.115863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	10.1189	0.42607	0.1376:0.7943:0.0:0.0681	.	.	.	.	X	150;175;16;16	.	ENSP00000295754:S150X	S	+	2	0	TGFBR2	30666951	0.931000	0.31567	0.854000	0.33618	0.992000	0.81027	3.594000	0.54008	1.511000	0.48818	0.655000	0.94253	TCA		0.433	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			4	62	0	0	0	0	4	62				
RBM15B	29890	broad.mit.edu	37	3	51430468	51430468	+	Silent	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr3:51430468G>A	ENST00000323686.4	+	1	1738	c.1638G>A	c.(1636-1638)ttG>ttA	p.L546L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	546					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGACTTTTTTGGAAGGGGACT	0.627																																						uc003dbd.2		NA																	0					0						c.(1636-1638)TTG>TTA		RNA binding motif protein 15B							33.0	39.0	37.0					3																	51430468		2203	4300	6503	SO:0001819	synonymous_variant	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430468G>A	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1638G>A	3.37:g.51430468G>A							p.L546L	NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1738	+			546					A4QPG7|Q6QE19|Q9BV96	Silent	SNP	ENST00000323686.4	37	c.1638G>A	CCDS33764.1																																																																																				0.627	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		6	55	0	0	0	0	6	55				
KNG1	3827	broad.mit.edu	37	3	186435424	186435424	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr3:186435424G>T	ENST00000265023.4	+	1	305	c.93G>T	c.(91-93)aaG>aaT	p.K31N	KNG1_ENST00000447445.1_Missense_Mutation_p.K31N|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.K31N	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	31	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		GCAATGACAAGGATTTATTTA	0.393																																						uc011bsa.1		NA																	0				skin(1)	1						c.(91-93)AAG>AAT		kininogen 1 isoform 1	Ouabain(DB01092)						119.0	121.0	121.0					3																	186435424		2203	4299	6502	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186435424G>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.93G>T	3.37:g.186435424G>T	ENSP00000265023:p.Lys31Asn					KNG1_uc003fqr.2_Missense_Mutation_p.K31N	p.K31N	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	1	305	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		31			Cystatin 1.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.93G>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	8.817	0.936604	0.18206	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.28454	1.61;1.61;1.61	5.2	-1.23	0.09465	Proteinase inhibitor I25, cystatin (2);	0.858653	0.10048	N	0.722556	T	0.14830	0.0358	N	0.19112	0.55	0.09310	N	1	B;B	0.17268	0.014;0.021	B;B	0.20384	0.029;0.008	T	0.28396	-1.0045	10	0.31617	T	0.26	-0.6635	1.0248	0.01526	0.3683:0.1492:0.3299:0.1526	.	31;31	P01042;P01042-2	KNG1_HUMAN;.	N	31;31;31;19	ENSP00000287611:K31N;ENSP00000265023:K31N;ENSP00000396025:K31N	ENSP00000265023:K31N	K	+	3	2	KNG1	187918118	0.000000	0.05858	0.006000	0.13384	0.403000	0.30841	-0.864000	0.04254	0.043000	0.15746	0.455000	0.32223	AAG		0.393	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		6	70	1	0	3.6e-05	0.000137899	6	70				
FAT4	79633	broad.mit.edu	37	4	126241929	126241929	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr4:126241929C>G	ENST00000394329.3	+	1	4376	c.4363C>G	c.(4363-4365)Cta>Gta	p.L1455V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1455	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAATGGTCAACTATCCTACAC	0.393																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4363-4365)CTA>GTA		FAT tumor suppressor homolog 4 precursor							135.0	123.0	127.0					4																	126241929		1917	4133	6050	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241929C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4363C>G	4.37:g.126241929C>G	ENSP00000377862:p.Leu1455Val						p.L1455V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4363	+			1455			Cadherin 14.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4363C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	0.405	-0.916252	0.02415	.	.	ENSG00000196159	ENST00000394329	T	0.48836	0.8	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	0.000000	0.27912	U	0.017347	T	0.32793	0.0841	N	0.00996	-1.065	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.35375	-0.9791	10	0.07030	T	0.85	.	11.3118	0.49368	0.0:0.8693:0.0:0.1307	.	1455	Q6V0I7	FAT4_HUMAN	V	1455	ENSP00000377862:L1455V	ENSP00000377862:L1455V	L	+	1	2	FAT4	126461379	0.998000	0.40836	0.544000	0.28141	0.181000	0.23173	1.917000	0.39996	2.535000	0.85469	0.655000	0.94253	CTA		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	104	0	0	0	0	5	104				
FAT1	2195	broad.mit.edu	37	4	187539417	187539417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr4:187539417G>A	ENST00000441802.2	-	10	8532	c.8323C>T	c.(8323-8325)Cag>Tag	p.Q2775*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2775	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGAAAACTGATACCACTTA	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(8323-8325)CAG>TAG		FAT tumor suppressor 1 precursor							203.0	200.0	201.0					4																	187539417		1979	4169	6148	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539417G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8323C>T	4.37:g.187539417G>A	ENSP00000406229:p.Gln2775*	HNSCC(5;0.00058)					p.Q2775*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8511	-			2775			Extracellular (Potential).|Cadherin 25.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.8323C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	50	17.024605	0.99877	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	18.8402	0.92180	0.0:0.0:1.0:0.0	.	.	.	.	X	2775;2777	.	ENSP00000260147:Q2777X	Q	-	1	0	FAT1	187776411	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	9.657000	0.98554	2.757000	0.94681	0.655000	0.94253	CAG		0.453	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		21	237	0	0	0	0	21	237				
PGBD1	84547	broad.mit.edu	37	6	28269233	28269233	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:28269233C>G	ENST00000405948.2	+	7	2022	c.1602C>G	c.(1600-1602)ctC>ctG	p.L534L	PGBD1_ENST00000259883.3_Silent_p.L534L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	534						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAAATTTCCTCTTGTATGCTC	0.353																																						uc003nky.2		NA																	0				ovary(4)	4						c.(1600-1602)CTC>CTG		piggyBac transposable element derived 1							81.0	87.0	85.0					6																	28269233		2203	4300	6503	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269233C>G	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1602C>G	6.37:g.28269233C>G						PGBD1_uc003nkz.2_Silent_p.L534L	p.L534L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			7	1972	+			534					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.1602C>G	CCDS4648.1																																																																																				0.353	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			3	85	0	0	0	0	3	85				
HLA-A	3105	broad.mit.edu	37	6	29912175	29912175	+	Splice_Site	SNP	G	G	T	rs41547331		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:29912175G>T	ENST00000396634.1	+	6	1236		c.e6+1		HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTGAGATGGGGTAAGGAGGGA	0.597									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2	GRCh37	CS023211	HLA-A	S	rs41547331	c.e4+1		major histocompatibility complex, class I, A							61.0	57.0	58.0					6																	29912175		1511	2709	4220	SO:0001630	splice_region_variant	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912175G>T	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.895+1G>T	6.37:g.29912175G>T		Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Splice_Site_p.E178_splice|HLA-A_uc003nok.2_Splice_Site_p.E178_splice|HLA-A_uc003non.2_Splice_Site_p.E299_splice|HLA-A_uc003noo.2_Splice_Site_p.E299_splice|HLA-A_uc010jrr.2_Splice_Site_p.V299_splice|HLA-A_uc003nom.2_Splice_Site_p.E178_splice|HLA-A_uc010klp.2_Splice_Site_p.D271_splice|HLA-A_uc011dmc.1_Splice_Site_p.E178_splice|HLA-A_uc011dmd.1_Splice_Site_p.E178_splice	p.E299_splice	NM_002116	NP_002107	P30443	1A01_HUMAN			4	895	+								O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Splice_Site	SNP	ENST00000396634.1	37	c.895_splice	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	g	13.18	2.158783	0.38119	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1517	0.48462	0.0:0.0:1.0:0.0	rs41547331	.	.	.	.	-1	.	.	.	+	.	.	HLA-A	30020154	1.000000	0.71417	0.998000	0.56505	0.644000	0.38419	2.747000	0.47475	2.070000	0.61991	0.485000	0.47835	.		0.597	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116	Intron	7	37	1	0	8.13e-05	0.000307674	7	37				
USP49	25862	broad.mit.edu	37	6	41773790	41773790	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:41773790G>A	ENST00000394253.3	-	3	1261	c.932C>T	c.(931-933)tCg>tTg	p.S311L	USP49_ENST00000373009.3_Missense_Mutation_p.S311L|USP49_ENST00000373010.1_Missense_Mutation_p.S311L|USP49_ENST00000297229.2_Missense_Mutation_p.S311L|USP49_ENST00000373006.1_Missense_Mutation_p.S311L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	311	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCCGTGGCCGAGCTGTTGGT	0.572																																						uc003ori.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(931-933)TCG>TTG		ubiquitin thioesterase 49							48.0	55.0	53.0					6																	41773790		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773790G>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.932C>T	6.37:g.41773790G>A	ENSP00000377797:p.Ser311Leu						p.S311L	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	1154	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		311					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.932C>T		.	.	.	.	.	.	.	.	.	.	G	1.662	-0.511113	0.04231	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.07021	3.71;3.23;3.71;3.48;3.48	4.22	4.22	0.49857	.	2.427600	0.01283	N	0.009789	T	0.04092	0.0114	L	0.53561	1.675	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38329	-0.9666	10	0.26408	T	0.33	-4.2943	9.3344	0.38040	0.1003:0.0:0.8997:0.0	.	311	Q70CQ1-2	.	L	311	ENSP00000377797:S311L;ENSP00000362101:S311L;ENSP00000362100:S311L;ENSP00000362097:S311L;ENSP00000297229:S311L	ENSP00000297229:S311L	S	-	2	0	USP49	41881768	0.673000	0.27539	0.540000	0.28089	0.015000	0.08874	2.863000	0.48396	2.175000	0.68902	0.655000	0.94253	TCG		0.572	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		7	72	0	0	0	0	7	72				
CEP162	22832	broad.mit.edu	37	6	84872909	84872909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:84872909C>T	ENST00000403245.3	-	19	2580	c.2466G>A	c.(2464-2466)atG>atA	p.M822I	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.M746I	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTCTTTCTTCATTTTTTCGA	0.333																																						uc010kbp.2		NA																	0				ovary(1)	1						c.(2464-2466)ATG>ATA		KIAA1009 protein							234.0	214.0	221.0					6																	84872909		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84872909C>T																												ENST00000403245.3:c.2466G>A	6.37:g.84872909C>T	ENSP00000385215:p.Met822Ile					KIAA1009_uc003pkj.3_Missense_Mutation_p.M746I|KIAA1009_uc003pki.3_Missense_Mutation_p.M208I	p.M822I	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	19	2563	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	822			Potential.			Missense_Mutation	SNP	ENST00000403245.3	37	c.2466G>A	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232367	0.39498	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.31247	1.5;1.5	5.24	4.37	0.52481	.	0.292841	0.34879	N	0.003607	T	0.13030	0.0316	M	0.62016	1.91	0.31305	N	0.687772	B	0.17667	0.023	B	0.18561	0.022	T	0.10917	-1.0609	10	0.30854	T	0.27	-2.8178	7.2139	0.25949	0.1291:0.6763:0.1246:0.07	.	822	Q5TB80	QN1_HUMAN	I	746;822	ENSP00000257766:M746I;ENSP00000385215:M822I	ENSP00000257766:M746I	M	-	3	0	KIAA1009	84929628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.812000	0.38952	1.291000	0.44653	0.563000	0.77884	ATG		0.333	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			13	119	0	0	0	0	13	119				
ARID1B	57492	broad.mit.edu	37	6	157528758	157528758	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:157528758C>T	ENST00000350026.5	+	19	6445	c.6444C>T	c.(6442-6444)agC>agT	p.S2148S	ARID1B_ENST00000275248.4_Silent_p.S2143S|ARID1B_ENST00000367148.1_Silent_p.S2201S|ARID1B_ENST00000346085.5_Silent_p.S2161S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2148					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTTGATAAGCTTCCTAGAGG	0.552																																						uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(6427-6429)AGC>AGT		AT rich interactive domain 1B (SWI1-like)							114.0	105.0	108.0					6																	157528758		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528758C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6444C>T	6.37:g.157528758C>T						ARID1B_uc003qqo.2_Silent_p.S2103S|ARID1B_uc003qqp.2_Silent_p.S2090S	p.S2143S	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6581	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2148					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.6429C>T	CCDS5251.2																																																																																				0.552	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		7	139	0	0	0	0	7	139				
TAGAP	117289	broad.mit.edu	37	6	159463226	159463226	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:159463226G>T	ENST00000367066.3	-	5	530	c.199C>A	c.(199-201)Ctc>Atc	p.L67I	TAGAP_ENST00000338313.5_Missense_Mutation_p.L67I|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Intron	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	67					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCAGGGGAGAGCCTTCTCATG	0.448																																						uc003qrz.2		NA																	0				ovary(1)	1						c.(199-201)CTC>ATC		T-cell activation Rho GTPase-activating protein							164.0	176.0	172.0					6																	159463226		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159463226G>T	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.199C>A	6.37:g.159463226G>T	ENSP00000356033:p.Leu67Ile					TAGAP_uc011eft.1_Missense_Mutation_p.L4I|TAGAP_uc003qsa.2_Intron|TAGAP_uc003qsb.2_Missense_Mutation_p.L67I|uc003qsc.2_5'Flank	p.L67I	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	5	531	-		Breast(66;0.000776)|Ovarian(120;0.0303)	67					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.199C>A	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098075	0.37048	.	.	ENSG00000164691	ENST00000367066;ENST00000338313	T;T	0.20738	2.2;2.05	6.08	0.619	0.17630	.	0.489617	0.19697	N	0.108127	T	0.03959	0.0111	L	0.51422	1.61	0.09310	N	0.999999	B;B	0.30763	0.052;0.294	B;B	0.21546	0.035;0.034	T	0.37709	-0.9694	10	0.22109	T	0.4	-8.9589	1.1497	0.01783	0.1624:0.2:0.3386:0.299	.	67;67	Q8N103-4;Q8N103	.;TAGAP_HUMAN	I	67	ENSP00000356033:L67I;ENSP00000340217:L67I	ENSP00000340217:L67I	L	-	1	0	TAGAP	159383214	0.054000	0.20591	0.019000	0.16419	0.931000	0.56810	1.989000	0.40707	0.146000	0.19002	0.591000	0.81541	CTC		0.448	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		9	217	1	0	0.000274275	0.00102562	9	217				
TRGC1	6966	broad.mit.edu	37	7	38305122	38305122	+	RNA	SNP	C	C	G	rs559110973		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr7:38305122C>G	ENST00000443402.2	-	0	157					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											ATCCCAGAATCGTGTTGCTCT	0.418																																						uc003tge.1		NA																	0					0						c.(583-585)ACG>ACC		Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.							167.0	169.0	168.0					7																	38305122		1815	4070	5885			445347							g.chr7:38305122C>G	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305122C>G						uc003tfz.1_Intron|TARP_uc003tgb.2_5'UTR|TARP_uc003tgc.1_5'UTR|TARP_uc003tgd.1_5'UTR|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA	p.T195T			A2JGV3	A2JGV3_HUMAN			5	962	-			Error:Variant_position_missing_in_A2JGV3_after_alignment						Silent	SNP	ENST00000443402.2	37	c.585G>C																																																																																					0.418	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		6	175	0	0	0	0	6	175				
MYOM2	9172	broad.mit.edu	37	8	2020522	2020522	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:2020522C>G	ENST00000262113.4	+	9	1032	c.891C>G	c.(889-891)ctC>ctG	p.L297L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	297	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGGTCACTCTCAAGTGCACCA	0.617																																						uc003wpx.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(889-891)CTC>CTG		myomesin 2							76.0	62.0	67.0					8																	2020522		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2020522C>G		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.891C>G	8.37:g.2020522C>G						MYOM2_uc011kwi.1_Intron	p.L297L	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	9	1029	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	297			Ig-like C2-type 2.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.891C>G	CCDS5957.1																																																																																				0.617	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		3	31	0	0	0	0	3	31				
UBR5	51366	broad.mit.edu	37	8	103358503	103358503	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:103358503C>T	ENST00000520539.1	-	7	1303	c.697G>A	c.(697-699)Gat>Aat	p.D233N	UBR5_ENST00000521922.1_Missense_Mutation_p.D233N|UBR5_ENST00000220959.4_Missense_Mutation_p.D233N	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	233					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCATCCCCATCATCTCCATCT	0.433																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(697-699)GAT>AAT		ubiquitin protein ligase E3 component n-recognin							173.0	159.0	164.0					8																	103358503		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103358503C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.697G>A	8.37:g.103358503C>T	ENSP00000429084:p.Asp233Asn					UBR5_uc003yks.1_Missense_Mutation_p.D233N	p.D233N	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		7	730	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		233					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.697G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516526	0.85495	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.54675	0.59;0.59;0.56	5.46	5.46	0.80206	.	0.054303	0.64402	D	0.000001	T	0.63651	0.2529	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.66114	-0.6004	10	0.72032	D	0.01	.	19.6693	0.95905	0.0:1.0:0.0:0.0	.	233;233	E7EMW7;O95071	.;UBR5_HUMAN	N	233	ENSP00000429084:D233N;ENSP00000220959:D233N;ENSP00000427819:D233N	ENSP00000220959:D233N	D	-	1	0	UBR5	103427679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.711000	0.92665	0.650000	0.86243	GAT		0.433	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		7	99	0	0	0	0	7	99				
RIMS2	9699	broad.mit.edu	37	8	104709390	104709390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:104709390C>T	ENST00000406091.3	+	2	253	c.253C>T	c.(253-255)Cag>Tag	p.Q85*		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	116	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGCAAGAACAGAAGGGTGA	0.413										HNSCC(12;0.0054)																												uc003ylp.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(253-255)CAG>TAG		regulating synaptic membrane exocytosis 2							139.0	139.0	139.0					8																	104709390		1987	4154	6141	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104709390C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.253C>T	8.37:g.104709390C>T	ENSP00000384892:p.Gln85*	HNSCC(12;0.0054)					p.Q85*	NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	392	+			116			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000406091.3	37	c.253C>T	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	C	36	5.718889	0.96839	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	19.6154	0.95632	0.0:1.0:0.0:0.0	.	.	.	.	X	85;116;85;116	.	ENSP00000332184:Q116X	Q	+	1	0	RIMS2	104778566	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.917000	0.69989	2.630000	0.89119	0.556000	0.70494	CAG		0.413	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		11	78	0	0	0	0	11	78				
ANGPT1	284	broad.mit.edu	37	8	108509701	108509701	+	IGR	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:108509701C>G								ANGPT1 (160951 upstream) : RNA5SP275 (387020 downstream)																							TCTTCTCCCACTGTTTTCTGG	0.483																																						uc003ymn.2		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(85-87)AGT>ACT		angiopoietin 1 precursor							176.0	145.0	155.0					8																	108509701		2203	4300	6503	SO:0001628	intergenic_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108509701C>G																													8.37:g.108509701C>G						ANGPT1_uc003ymo.2_Missense_Mutation_p.S29T	p.S29T	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		1	554	-	Breast(1;5.06e-08)		29						Missense_Mutation	SNP		37	c.86G>C		.	.	.	.	.	.	.	.	.	.	C	6.651	0.488614	0.12641	.	.	ENSG00000154188	ENST00000517746;ENST00000297450	D;D	0.81579	-1.51;-1.51	5.84	5.84	0.93424	.	0.373181	0.28555	N	0.014933	T	0.65123	0.2661	N	0.17474	0.49	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.59632	-0.7418	10	0.08179	T	0.78	.	13.3638	0.60671	0.0:0.9284:0.0:0.0716	.	29;29	Q5HYA0;Q15389	.;ANGP1_HUMAN	T	29	ENSP00000428340:S29T;ENSP00000297450:S29T	ENSP00000297450:S29T	S	-	2	0	ANGPT1	108578877	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.912000	0.39946	2.768000	0.95171	0.650000	0.86243	AGT	0	0.483									5	65	0	0	0	0	5	65				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		5	20	0	0	0	0	5	20				
AQP7	364	broad.mit.edu	37	9	33385823	33385823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr9:33385823G>A	ENST00000541274.1	-	5	621	c.172C>T	c.(172-174)Cac>Tac	p.H58Y	AQP7_ENST00000539936.1_Silent_p.I189I|AQP7_ENST00000537089.1_Silent_p.I97I|AQP7_ENST00000377425.4_Silent_p.I132I			O14520	AQP7_HUMAN	aquaporin 7	296					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCTGGTCCGTGATGGCGAAGA	0.622																																						uc003zst.2		NA																	0					0						c.(565-567)ATC>ATT		aquaporin 7							119.0	103.0	109.0					9																	33385823		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385823G>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.172C>T	9.37:g.33385823G>A	ENSP00000438860:p.His58Tyr					SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Silent_p.I132I|AQP7_uc010mjs.2_Silent_p.I97I|AQP7_uc010mjt.2_Silent_p.I97I|AQP7_uc011lnx.1_Silent_p.I189I|AQP7_uc011lny.1_Silent_p.I188I|AQP7_uc003zss.3_Silent_p.I97I|AQP7_uc011lnz.1_Silent_p.I97I|AQP7_uc011loa.1_Missense_Mutation_p.H58Y	p.I189I	NM_001170	NP_001161	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	7	739	-			189			Helical; (Potential).		Q08E94|Q5T5L9|Q8NHM3	Silent	SNP	ENST00000541274.1	37	c.567C>T		.	.	.	.	.	.	.	.	.	.	g	9.649	1.141004	0.21205	.	.	ENSG00000165269	ENST00000541274	T	0.46819	0.86	5.02	5.02	0.67125	.	.	.	.	.	T	0.23926	0.0579	.	.	.	0.80722	D	1	P	0.35551	0.509	B	0.35470	0.203	T	0.17992	-1.0351	8	0.02654	T	1	-39.9647	9.3181	0.37946	0.095:0.0:0.905:0.0	.	58	B7Z7F6	.	Y	58	ENSP00000438860:H58Y	ENSP00000438860:H58Y	H	-	1	0	AQP7	33375823	0.211000	0.23529	0.992000	0.48379	0.372000	0.29890	0.499000	0.22546	2.609000	0.88269	0.645000	0.84053	CAC		0.622	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		5	74	0	0	0	0	5	74				
NELFB	25920	broad.mit.edu	37	9	140150358	140150358	+	Splice_Site	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr9:140150358G>C	ENST00000343053.4	+	2	439		c.e2-1			NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B						gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGCTTCCTCAGACAGAGAATG	0.632																																						uc004cmm.3		NA																	0					0						c.e2-1		cofactor of BRCA1							77.0	84.0	81.0					9																	140150358		2203	4300	6503	SO:0001630	splice_region_variant	25920				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding	g.chr9:140150358G>C	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.103-1G>C	9.37:g.140150358G>C							p.T35_splice	NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)	2	306	+	all_cancers(76;0.0926)							A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Splice_Site	SNP	ENST00000343053.4	37	c.103_splice	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361688	0.82353	.	.	ENSG00000188986	ENST00000343053	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1643	0.72811	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COBRA1	139270179	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	9.671000	0.98627	1.884000	0.54569	0.561000	0.74099	.		0.632	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456	Intron	11	113	0	0	0	0	11	113				
OFD1	8481	broad.mit.edu	37	X	13762639	13762639	+	Splice_Site	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:13762639G>T	ENST00000340096.6	+	6	844		c.e6+1		OFD1_ENST00000398395.3_Splice_Site|OFD1_ENST00000380550.3_Splice_Site|OFD1_ENST00000380567.1_Splice_Site|OFD1_ENST00000490265.1_Splice_Site	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1						axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GATTCTCTGGGTAATTATAGC	0.323																																						uc004cvp.3		NA																	0					0						c.e6+1		oral-facial-digital syndrome 1							53.0	45.0	48.0					X																	13762639		2203	4298	6501	SO:0001630	splice_region_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13762639G>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.517+1G>T	X.37:g.13762639G>T						OFD1_uc004cvr.3_Splice_Site|OFD1_uc011mil.1_Splice_Site|OFD1_uc004cvq.3_Splice_Site_p.A33_splice|OFD1_uc010nen.2_Splice_Site_p.A172_splice|OFD1_uc004cvs.3_Splice_Site|OFD1_uc004cvu.3_Splice_Site_p.A172_splice|OFD1_uc004cvv.3_Splice_Site_p.A172_splice|OFD1_uc010neo.1_5'Flank	p.A173_splice	NM_003611	NP_003602	O75665	OFD1_HUMAN			6	876	+								B9ZVU5|O75666|Q4VAK4	Splice_Site	SNP	ENST00000340096.6	37	c.517_splice	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181148	0.38511	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096;ENST00000380567;ENST00000543598	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1232	0.89578	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OFD1	13672560	1.000000	0.71417	0.997000	0.53966	0.208000	0.24298	8.109000	0.89561	2.472000	0.83506	0.544000	0.68410	.		0.323	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611	Intron	3	11	1	0	6.4e-05	0.000243753	3	11				
TAF7L	54457	broad.mit.edu	37	X	100524182	100524182	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:100524182C>T	ENST00000372907.3	-	13	1399	c.1388G>A	c.(1387-1389)tGa>tAa	p.*463*	TAF7L_ENST00000324762.6_Silent_p.*303*|TAF7L_ENST00000372905.2_Silent_p.*303*|TAF7L_ENST00000356784.1_Silent_p.*377*	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	0					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGGCTCTCCTCACTTCTTCAG	0.448																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2		NA																	0				breast(1)	1						c.(1387-1389)TGA>TAA		TATA box binding protein-associated factor, RNA							176.0	152.0	160.0					X																	100524182		2203	4300	6503	SO:0001819	synonymous_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100524182C>T	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1388G>A	X.37:g.100524182C>T						TAF7L_uc004eha.2_Silent_p.*303*	p.*463*	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			13	1400	-			463					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	c.1388G>A	CCDS35347.1																																																																																				0.448	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			16	76	0	0	0	0	16	76				
RGAG1	57529	broad.mit.edu	37	X	109694739	109694739	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:109694739C>G	ENST00000465301.2	+	3	1140	c.894C>G	c.(892-894)ctC>ctG	p.L298L	RGAG1_ENST00000540313.1_Silent_p.L298L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	298										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTACCCCGCTCATGTCAGATC	0.488																																						uc004eor.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(892-894)CTC>CTG		retrotransposon gag domain containing 1							188.0	162.0	171.0					X																	109694739		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109694739C>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.894C>G	X.37:g.109694739C>G						RGAG1_uc011msr.1_Silent_p.L298L	p.L298L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	1140	+			298					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.894C>G	CCDS14552.1																																																																																				0.488	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		3	115	0	0	0	0	3	115				
CNGA2	1260	broad.mit.edu	37	X	150911102	150911102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:150911102C>T	ENST00000329903.4	+	5	610	c.577C>T	c.(577-579)Cga>Tga	p.R193*		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	193					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTCATCCGATTGCGCAC	0.512																																						uc004fey.1		NA																	0				breast(3)	3						c.(577-579)CGA>TGA		cyclic nucleotide gated channel alpha 2							170.0	135.0	147.0					X																	150911102		2203	4300	6503	SO:0001587	stop_gained	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911102C>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.577C>T	X.37:g.150911102C>T	ENSP00000328478:p.Arg193*						p.R193*	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			6	801	+	Acute lymphoblastic leukemia(192;6.56e-05)		193			Cytoplasmic (Potential).		A0AVD0	Nonsense_Mutation	SNP	ENST00000329903.4	37	c.577C>T	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701468	0.68501	.	.	ENSG00000183862	ENST00000329903	.	.	.	5.6	3.63	0.41609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2992	0.49295	0.3811:0.6189:0.0:0.0	.	.	.	.	X	193	.	ENSP00000328478:R193X	R	+	1	2	CNGA2	150661758	0.955000	0.32602	0.040000	0.18447	0.398000	0.30690	2.168000	0.42424	1.106000	0.41623	0.513000	0.50165	CGA		0.512	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		20	57	0	0	0	0	20	57				
TCHP	84260	broad.mit.edu	37	12	110345379	110345380	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:110345379_110345380insA	ENST00000312777.5	+	6	788_789	c.574_575insA	c.(574-576)gaafs	p.E192fs	TCHP_ENST00000405876.4_Frame_Shift_Ins_p.E192fs	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AAATGAATATGAAAGGGCCCGA	0.51																																						uc001tpn.2		NA																	0				skin(1)	1						c.(574-576)GAAfs		trichoplein																																				SO:0001589	frameshift_variant	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110345379_110345380insA	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.577dupA	12.37:g.110345382_110345382dupA	ENSP00000324404:p.Glu192fs					TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Frame_Shift_Ins_p.E192fs	p.E192fs	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN			6	727_728	+			192			Glu-rich.|Interaction with keratin proteins.|Potential.			Frame_Shift_Ins	INS	ENST00000312777.5	37	c.574_575insA	CCDS9137.1																																																																																				0.510	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300		8	103	NA	NA	NA	NA	8	103	---	---	---	---
CASP8	841	broad.mit.edu	37	2	202137479	202137481	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:202137479_202137481delACT	ENST00000432109.2	+	5	719_721	c.530_532delACT	c.(529-534)gactat>gat	p.Y178del	CASP8_ENST00000358485.4_In_Frame_Del_p.Y237del|CASP8_ENST00000323492.7_In_Frame_Del_p.Y178del|CASP8_ENST00000392259.2_In_Frame_Del_p.Y178del|CASP8_ENST00000264274.9_In_Frame_Del_p.Y178del|CASP8_ENST00000264275.5_In_Frame_Del_p.Y210del|CASP8_ENST00000392266.3_In_Frame_Del_p.Y178del|CASP8_ENST00000392258.3_In_Frame_Del_p.Y178del	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	178					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATAATCAACGACTATGAAGAATT	0.429										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(529-534)GACTAT>GAT		caspase 8 isoform B precursor																																				SO:0001651	inframe_deletion	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202137479_202137481delACT	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.530_532delACT	2.37:g.202137479_202137481delACT	ENSP00000412523:p.Tyr178del	HNSCC(4;0.00038)				CASP8_uc010ftc.1_In_Frame_Del_p.Y178del|CASP8_uc002uxo.1_In_Frame_Del_p.Y178del|CASP8_uc002uxp.1_In_Frame_Del_p.Y210del|CASP8_uc002uxq.1_In_Frame_Del_p.Y178del|CASP8_uc002uxs.1_In_Frame_Del_p.Y178del|CASP8_uc002uxt.1_In_Frame_Del_p.Y237del|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_In_Frame_Del_p.Y75del|CASP8_uc002uxv.1_In_Frame_Del_p.Y178del|CASP8_uc002uxw.1_In_Frame_Del_p.Y178del|CASP8_uc002uxy.1_In_Frame_Del_p.Y178del|CASP8_uc002uxx.1_In_Frame_Del_p.Y178del|CASP8_uc010ftf.2_In_Frame_Del_p.Y178del|CASP8_uc010fte.1_In_Frame_Del_p.Y75del	p.Y178del	NM_033355	NP_203519	Q14790	CASP8_HUMAN			5	739_741	+			178					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	In_Frame_Del	DEL	ENST00000432109.2	37	c.530_532delACT	CCDS2342.1																																																																																				0.429	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		28	119	NA	NA	NA	NA	28	119	---	---	---	---
