#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
VTA1	51534	broad.mit.edu	37	6	142519629	142519629	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:142519629C>G	ENST00000367630.4	+	6	632	c.574C>G	c.(574-576)Cag>Gag	p.Q192E	VTA1_ENST00000452973.2_Missense_Mutation_p.Q134E|VTA1_ENST00000367621.1_Missense_Mutation_p.Q134E|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	192					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TCAGCCAACTCAGCCATCATC	0.438																																						ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(574-576)Cag>Gag		vesicle (multivesicular body) trafficking 1							107.0	93.0	98.0					6																	142519629		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142519629C>G	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.574C>G	6.37:g.142519629C>G	ENSP00000356602:p.Gln192Glu					VTA1_ENST00000452973.2_Missense_Mutation_p.Q134E|VTA1_ENST00000367621.1_Missense_Mutation_p.Q134E|VTA1_ENST00000491881.1_3'UTR	p.Q192E	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	6	632	+	Breast(32;0.155)		192					B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.574C>G	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	C	2.533	-0.308018	0.05458	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973	T;T;T	0.41065	1.01;1.01;1.03	5.63	3.79	0.43588	.	1.069350	0.07089	N	0.838378	T	0.12263	0.0298	L	0.29908	0.895	0.09310	N	1	P;B	0.35527	0.507;0.001	B;B	0.37550	0.253;0.004	T	0.19877	-1.0292	10	0.06236	T	0.91	-1.1981	10.2274	0.43233	0.1442:0.5771:0.2787:0.0	.	134;192	E7ETQ7;Q9NP79	.;VTA1_HUMAN	E	192;134;134	ENSP00000356602:Q192E;ENSP00000356593:Q134E;ENSP00000395767:Q134E	ENSP00000356593:Q134E	Q	+	1	0	VTA1	142561322	0.999000	0.42202	0.601000	0.28877	0.636000	0.38137	3.687000	0.54692	0.699000	0.31761	0.650000	0.86243	CAG		0.438	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		5	46	0	0	0	1	0	5	46				
HYOU1	10525	broad.mit.edu	37	11	118925381	118925381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr11:118925381G>A	ENST00000404233.3	-	7	627	c.503C>T	c.(502-504)cCc>cTc	p.P168L	HYOU1_ENST00000543287.1_Missense_Mutation_p.P81L|HYOU1_ENST00000529972.1_Missense_Mutation_p.P168L|HYOU1_ENST00000525859.1_Missense_Mutation_p.P168L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	168					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ATCCTTGATGGGCTGCTCTAC	0.537																																						ENST00000404233.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33						c.(502-504)cCc>cTc		hypoxia up-regulated 1							57.0	54.0	55.0					11																	118925381		2200	4295	6495	SO:0001583	missense	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118925381G>A	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.503C>T	11.37:g.118925381G>A	ENSP00000384144:p.Pro168Leu					HYOU1_ENST00000543287.1_Missense_Mutation_p.P81L|HYOU1_ENST00000525859.1_Missense_Mutation_p.P168L|HYOU1_ENST00000529972.1_Missense_Mutation_p.P168L	p.P168L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	7	627	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	168					A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	c.503C>T	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629747	0.87660	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.04156	5.46;5.46;5.46;3.69;5.46	5.36	5.36	0.76844	.	0.051546	0.85682	D	0.000000	T	0.23886	0.0578	M	0.82056	2.57	0.80722	D	1	D;D;D;D	0.76494	0.999;0.995;0.999;0.999	D;P;D;D	0.67725	0.953;0.83;0.953;0.953	T	0.00621	-1.1640	10	0.59425	D	0.04	-18.4606	19.0987	0.93265	0.0:0.0:1.0:0.0	.	159;212;168;168	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	L	168;159;168;168;17;168;211;81;168	ENSP00000384144:P168L;ENSP00000437313:P168L;ENSP00000433397:P168L;ENSP00000442727:P81L;ENSP00000431874:P168L	ENSP00000278752:P159L	P	-	2	0	HYOU1	118430591	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.262000	0.72514	2.500000	0.84329	0.557000	0.71058	CCC		0.537	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		6	32	0	0	0	1	0	6	32				
GDPD2	54857	broad.mit.edu	37	X	69645276	69645276	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:69645276G>C	ENST00000374382.3	+	3	429	c.178G>C	c.(178-180)Gtc>Ctc	p.V60L	GDPD2_ENST00000453994.2_Missense_Mutation_p.V60L|GDPD2_ENST00000538649.1_Intron|GDPD2_ENST00000536730.1_5'UTR	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	60					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CATCGGGCTCGTCCTTCTCAA	0.572																																						ENST00000453994.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22						c.(178-180)Gtc>Ctc		glycerophosphodiester phosphodiesterase domain containing 2							285.0	222.0	244.0					X																	69645276		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69645276G>C	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.178G>C	X.37:g.69645276G>C	ENSP00000363503:p.Val60Leu					GDPD2_ENST00000374382.3_Missense_Mutation_p.V60L|GDPD2_ENST00000538649.1_Intron|GDPD2_ENST00000536730.1_5'UTR	p.V60L	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN			3	539	+	Renal(35;0.156)		60					B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.178G>C	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635470	0.29068	.	.	ENSG00000130055	ENST00000453994;ENST00000374382	T;T	0.28666	1.6;1.6	4.85	1.15	0.20763	.	0.200876	0.41294	D	0.000909	T	0.18002	0.0432	L	0.29908	0.895	0.80722	D	1	B;B	0.19445	0.036;0.003	B;B	0.15484	0.013;0.007	T	0.08351	-1.0726	9	.	.	.	-11.632	8.0786	0.30731	0.6917:0.0:0.3083:0.0	.	60;60	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	L	60	ENSP00000414019:V60L;ENSP00000363503:V60L	.	V	+	1	0	GDPD2	69562001	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.914000	0.28624	0.220000	0.20860	-0.382000	0.06688	GTC		0.572	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		7	51	0	0	0	1	0	7	51				
TRPC5	7224	broad.mit.edu	37	X	111025198	111025198	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:111025198C>G	ENST00000262839.2	-	8	2983	c.2065G>C	c.(2065-2067)Ggt>Cgt	p.G689R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	689					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCCGTCTACCGTCAGGGTCT	0.433																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2065-2067)Ggt>Cgt		transient receptor potential cation channel, subfamily C, member 5							122.0	117.0	119.0					X																	111025198		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111025198C>G	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2065G>C	X.37:g.111025198C>G	ENSP00000262839:p.Gly689Arg						p.G689R	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			8	2983	-			689					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2065G>C	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388602	0.25118	.	.	ENSG00000072315	ENST00000262839	T	0.80214	-1.35	5.72	5.72	0.89469	.	0.570332	0.19215	N	0.119823	T	0.61438	0.2347	N	0.04880	-0.145	0.35852	D	0.826837	B;B	0.23650	0.026;0.089	B;B	0.20577	0.018;0.03	T	0.63703	-0.6577	10	0.16420	T	0.52	-19.9239	12.5089	0.55997	0.0:0.9121:0.0:0.0879	.	690;689	Q59G51;Q9UL62	.;TRPC5_HUMAN	R	689	ENSP00000262839:G689R	ENSP00000262839:G689R	G	-	1	0	TRPC5	110911854	0.989000	0.36119	1.000000	0.80357	0.901000	0.52897	1.872000	0.39549	2.410000	0.81850	0.594000	0.82650	GGT		0.433	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		21	56	0	0	0	1	0	21	56				
CPSF3L	54973	broad.mit.edu	37	1	1249181	1249181	+	Missense_Mutation	SNP	C	C	G	rs559533918		TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:1249181C>G	ENST00000435064.1	-	9	970	c.888G>C	c.(886-888)caG>caC	p.Q296H	CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000421495.2_Missense_Mutation_p.Q38H|CPSF3L_ENST00000545578.1_Missense_Mutation_p.Q267H|CPSF3L_ENST00000450926.2_Missense_Mutation_p.Q274H|CPSF3L_ENST00000411962.1_Missense_Mutation_p.Q198H|CPSF3L_ENST00000540437.1_Missense_Mutation_p.Q302H|CPSF3L_ENST00000419704.1_Missense_Mutation_p.Q195H	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	296					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ACATGTTCCTCTGCACGAAAG	0.577																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(904-906)caG>caC		cleavage and polyadenylation specific factor 3-like							193.0	144.0	161.0					1																	1249181		2202	4300	6502	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1249181C>G	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.888G>C	1.37:g.1249181C>G	ENSP00000413493:p.Gln296His					CPSF3L_ENST00000450926.2_Missense_Mutation_p.Q274H|CPSF3L_ENST00000411962.1_Missense_Mutation_p.Q198H|CPSF3L_ENST00000421495.2_Missense_Mutation_p.Q38H|CPSF3L_ENST00000419704.1_Missense_Mutation_p.Q195H|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Missense_Mutation_p.Q267H|CPSF3L_ENST00000435064.1_Missense_Mutation_p.Q296H	p.Q302H	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	11	1361	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	296					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.906G>C	CCDS21.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678856	0.47886	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694	T;T;T;T;T;T	0.45668	0.97;0.97;0.97;0.97;0.89;0.97	5.26	5.26	0.73747	Beta-Casp domain (1);	0.179515	0.50627	N	0.000114	T	0.34687	0.0906	N	0.25060	0.705	0.80722	D	1	B;B;B;B;B;B	0.15141	0.004;0.005;0.005;0.004;0.01;0.012	B;B;B;B;B;B	0.20577	0.007;0.02;0.012;0.007;0.018;0.03	T	0.09122	-1.0689	10	0.46703	T	0.11	-42.3143	18.8783	0.92347	0.0:1.0:0.0:0.0	.	274;267;198;195;302;296	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	H	296;198;189;195;302;274;267;326	ENSP00000413493:Q296H;ENSP00000404886:Q195H;ENSP00000445001:Q302H;ENSP00000392848:Q274H;ENSP00000444672:Q267H;ENSP00000411233:Q326H	ENSP00000294579:Q189H	Q	-	3	2	CPSF3L	1239044	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.532000	0.60608	2.466000	0.83321	0.655000	0.94253	CAG		0.577	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		4	79	0	0	0	1	0	4	79				
PREX1	57580	broad.mit.edu	37	20	47324805	47324805	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr20:47324805C>A	ENST00000371941.3	-	6	798	c.776G>T	c.(775-777)gGc>gTc	p.G259V	PREX1_ENST00000396220.1_Missense_Mutation_p.G259V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	259					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CACCTCCCAGCCTTCGATGTG	0.622																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(775-777)gGc>gTc		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							80.0	78.0	79.0					20																	47324805		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47324805C>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.776G>T	20.37:g.47324805C>A	ENSP00000361009:p.Gly259Val					PREX1_ENST00000371941.3_Missense_Mutation_p.G259V	p.G259V			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		6	798	-			259					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.776G>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920339	0.92249	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	D;D	0.89485	-2.52;-2.52	5.64	5.64	0.86602	Dbl homology (DH) domain (1);	0.000000	0.53938	U	0.000042	D	0.91429	0.7295	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	D	0.92350	0.5889	10	0.87932	D	0	.	19.7013	0.96054	0.0:1.0:0.0:0.0	.	259	Q8TCU6	PREX1_HUMAN	V	259	ENSP00000361009:G259V;ENSP00000379522:G259V	ENSP00000361009:G259V	G	-	2	0	PREX1	46758212	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.657000	0.90304	0.655000	0.94253	GGC		0.622	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		10	101	1	0	0.000673444	1	0.00072732	10	101				
RERG	85004	broad.mit.edu	37	12	15262141	15262141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:15262141C>T	ENST00000256953.2	-	5	839	c.503G>A	c.(502-504)cGt>cAt	p.R168H	RERG_ENST00000536465.1_Missense_Mutation_p.R168H|RERG_ENST00000538313.1_Missense_Mutation_p.R168H|RERG_ENST00000546331.1_Missense_Mutation_p.R149H	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	168	Poly-Arg.				negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CCTCCGGCGACGCACCTCTCG	0.517																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(502-504)cGt>cAt		RAS-like, estrogen-regulated, growth inhibitor							127.0	118.0	121.0					12																	15262141		2203	4300	6503	SO:0001583	missense	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262141C>T	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.503G>A	12.37:g.15262141C>T	ENSP00000256953:p.Arg168His					RERG_ENST00000546331.1_Missense_Mutation_p.R149H|RERG_ENST00000536465.1_Missense_Mutation_p.R168H|RERG_ENST00000538313.1_Missense_Mutation_p.R168H	p.R168H	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			5	839	-			168			Poly-Arg.		B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	37	c.503G>A	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633916	0.67130	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	4.56	4.56	0.56223	.	0.104704	0.64402	D	0.000003	T	0.73544	0.3600	N	0.25485	0.75	0.80722	D	1	P;P	0.51933	0.949;0.773	B;B	0.43754	0.43;0.127	T	0.79296	-0.1862	10	0.87932	D	0	.	16.4155	0.83732	0.0:1.0:0.0:0.0	.	149;168	B4DI02;Q96A58	.;RERG_HUMAN	H	168;168;168;149	ENSP00000256953:R168H;ENSP00000441505:R168H;ENSP00000438280:R168H;ENSP00000444485:R149H	ENSP00000256953:R168H	R	-	2	0	RERG	15153408	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.611000	0.61162	2.526000	0.85167	0.655000	0.94253	CGT		0.517	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		21	119	0	0	0	1	0	21	119				
COL18A1	80781	broad.mit.edu	37	21	46875459	46875459	+	Silent	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr21:46875459C>T	ENST00000359759.4	+	1	36	c.15C>T	c.(13-15)ccC>ccT	p.P5P	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Silent_p.P5P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	5					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCCTACCCCTGTGGCTGCC	0.672																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(13-15)ccC>ccT		collagen, type XVIII, alpha 1							28.0	36.0	33.0					21																	46875459		2066	4203	6269	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46875459C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.15C>T	21.37:g.46875459C>T						COL18A1_ENST00000355480.5_Silent_p.P5P|COL18A1_ENST00000400337.2_Intron	p.P5P			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	1	36	+			5					A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.15C>T																																																																																					0.672	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			5	47	0	0	0	1	0	5	47				
ST8SIA6	338596	broad.mit.edu	37	10	17363155	17363155	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr10:17363155G>C	ENST00000377602.4	-	8	993	c.919C>G	c.(919-921)Ctg>Gtg	p.L307V		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	307					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AAAAGGGCCAGATCTTTCAGG	0.453																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(919-921)Ctg>Gtg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							191.0	191.0	191.0					10																	17363155		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363155G>C		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.919C>G	10.37:g.17363155G>C	ENSP00000366827:p.Leu307Val						p.L307V	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			8	993	-			307					B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.919C>G	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945118	0.34283	.	.	ENSG00000148488	ENST00000377602	T	0.27890	1.64	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	L	0.33339	1.005	0.50171	D	0.999858	P	0.48089	0.905	P	0.56751	0.805	T	0.01829	-1.1265	10	0.02654	T	1	-7.0802	19.2559	0.93945	0.0:0.0:1.0:0.0	.	307	P61647	SIA8F_HUMAN	V	307	ENSP00000366827:L307V	ENSP00000366827:L307V	L	-	1	2	ST8SIA6	17403161	1.000000	0.71417	0.271000	0.24616	0.995000	0.86356	4.211000	0.58507	2.861000	0.98227	0.650000	0.86243	CTG		0.453	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		12	250	0	0	0	1	0	12	250				
SLC8A1	6546	broad.mit.edu	37	2	40366587	40366587	+	Silent	SNP	A	A	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:40366587A>G	ENST00000403092.1	-	10	2532	c.2499T>C	c.(2497-2499)gaT>gaC	p.D833D	SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.D828D|SLC8A1_ENST00000332839.4_Silent_p.D833D|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.D828D|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.D797D|SLC8A1_ENST00000406391.2_Silent_p.D797D|SLC8A1_ENST00000542024.1_Silent_p.D797D|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.D797D|SLC8A1_ENST00000406785.2_Silent_p.D797D|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.D825D|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	833					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAGTCACAGAATCTTTCAGGC	0.483																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2389-2391)gaT>gaC		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						79.0	66.0	71.0					2																	40366587		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366587A>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2499T>C	2.37:g.40366587A>G						SLC8A1_ENST00000542756.1_Silent_p.D828D|SLC8A1_ENST00000402441.1_Silent_p.D797D|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.D833D|SLC8A1_ENST00000408028.2_Silent_p.D825D|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.D828D|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.D797D|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.D833D|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.D797D|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.D797D|SLC8A1-AS1_ENST00000435515.1_RNA	p.D797D			P32418	NAC1_HUMAN			7	2580	-			833					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.2391T>C	CCDS1806.1																																																																																				0.483	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		8	31	0	0	0	1	0	8	31				
ZFP37	7539	broad.mit.edu	37	9	115806449	115806449	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr9:115806449T>C	ENST00000374227.3	-	4	476	c.449A>G	c.(448-450)aAt>aGt	p.N150S	ZFP37_ENST00000553380.1_Missense_Mutation_p.N165S|ZFP37_ENST00000555206.1_Missense_Mutation_p.N151S	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTCACTGCCATTCTTCTTAGC	0.358																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(448-450)aAt>aGt		ZFP37 zinc finger protein							84.0	89.0	87.0					9																	115806449		2200	4290	6490	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115806449T>C	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.449A>G	9.37:g.115806449T>C	ENSP00000363344:p.Asn150Ser					ZFP37_ENST00000553380.1_Missense_Mutation_p.N165S|ZFP37_ENST00000555206.1_Missense_Mutation_p.N151S	p.N150S			Q9Y6Q3	ZFP37_HUMAN			4	476	-			150					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.449A>G	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	T	0.894	-0.724365	0.03158	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05139	3.53;3.49;3.55	4.43	0.678	0.17969	.	0.143229	0.32372	N	0.006185	T	0.03959	0.0111	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.14805	0.01;0.01;0.011	B;B;B	0.16289	0.015;0.015;0.009	T	0.39165	-0.9627	10	0.32370	T	0.25	-8.9486	5.1906	0.15207	0.0:0.0948:0.3472:0.558	.	151;165;150	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	S	150;151;165	ENSP00000363344:N150S;ENSP00000451310:N151S;ENSP00000452552:N165S	ENSP00000363344:N150S	N	-	2	0	ZFP37	114846270	0.939000	0.31865	0.019000	0.16419	0.001000	0.01503	1.025000	0.30090	0.108000	0.17862	-0.250000	0.11733	AAT		0.358	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		10	81	0	0	0	1	0	10	81				
ZNF451	26036	broad.mit.edu	37	6	57006251	57006251	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:57006251G>A	ENST00000370706.4	+	8	1098	c.854G>A	c.(853-855)gGt>gAt	p.G285D	RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.G285D|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.G285D|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCAAACTGGGTGGTATGTTA	0.348																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(853-855)gGt>gAt		zinc finger protein 451							89.0	82.0	85.0					6																	57006251		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57006251G>A	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.854G>A	6.37:g.57006251G>A	ENSP00000359740:p.Gly285Asp					RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.G285D|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.G285D|RP11-203B9.4_ENST00000586053.1_RNA	p.G285D	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		8	1098	+	Lung NSC(77;0.145)		285					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.854G>A	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643899	0.47258	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.06608	3.28;3.28;3.28	5.67	5.67	0.87782	.	0.566635	0.19170	N	0.120946	T	0.02727	0.0082	L	0.57536	1.79	0.80722	D	1	P;P;P;P	0.41848	0.763;0.651;0.514;0.651	B;B;B;B	0.31101	0.124;0.058;0.086;0.058	T	0.50541	-0.8816	10	0.17832	T	0.49	-7.6464	12.6072	0.56529	0.1186:0.0:0.8814:0.0	.	285;285;285;285	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	D	285	ENSP00000359740:G285D;ENSP00000350083:G285D;ENSP00000421645:G285D	ENSP00000350083:G285D	G	+	2	0	ZNF451	57114210	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.513000	0.45494	2.663000	0.90544	0.585000	0.79938	GGT		0.348	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		9	30	0	0	0	1	0	9	30				
AHNAK	79026	broad.mit.edu	37	11	62293766	62293766	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr11:62293766G>C	ENST00000378024.4	-	5	8397	c.8123C>G	c.(8122-8124)tCc>tGc	p.S2708C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2708					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAGGCATGGAGATCTTGGG	0.463																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8122-8124)tCc>tGc		AHNAK nucleoprotein							195.0	193.0	194.0					11																	62293766		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293766G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8123C>G	11.37:g.62293766G>C	ENSP00000367263:p.Ser2708Cys					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.S2708C	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	8397	-		Melanoma(852;0.155)	2708					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8123C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	19.63	3.864009	0.71949	.	.	ENSG00000124942	ENST00000378024	T	0.02301	4.35	4.65	4.65	0.58169	.	.	.	.	.	T	0.20577	0.0495	H	0.96111	3.77	0.47905	D	0.999541	D	0.89917	1.0	D	0.85130	0.997	T	0.21895	-1.0232	9	0.51188	T	0.08	-10.5383	15.3353	0.74247	0.0:0.0:1.0:0.0	.	2708	Q09666	AHNK_HUMAN	C	2708	ENSP00000367263:S2708C	ENSP00000367263:S2708C	S	-	2	0	AHNAK	62050342	0.988000	0.35896	0.980000	0.43619	0.669000	0.39330	4.949000	0.63596	2.127000	0.65507	0.479000	0.44913	TCC		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	204	0	0	0	1	0	7	204				
MARS2	92935	broad.mit.edu	37	2	198570695	198570695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:198570695C>T	ENST00000282276.6	+	1	609	c.566C>T	c.(565-567)tCg>tTg	p.S189L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	189					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCGGGCCCATCGGGGGATTCG	0.577																																						ENST00000282276.6																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(565-567)tCg>tTg		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						49.0	57.0	54.0					2																	198570695		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570695C>T	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.566C>T	2.37:g.198570695C>T	ENSP00000282276:p.Ser189Leu					AC011997.1_ENST00000409845.1_Intron	p.S189L	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	609	+			189					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.566C>T	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	C	2.044	-0.419359	0.04766	.	.	ENSG00000247626	ENST00000282276	T	0.46451	0.87	5.72	2.53	0.30540	Aminoacyl-tRNA synthetase, class I (M) (1);	1.772100	0.02624	N	0.103551	T	0.26738	0.0654	N	0.04132	-0.27	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.27123	-1.0083	10	0.42905	T	0.14	-6.0631	9.9296	0.41514	0.3025:0.6218:0.0:0.0757	.	189	Q96GW9	SYMM_HUMAN	L	189	ENSP00000282276:S189L	ENSP00000282276:S189L	S	+	2	0	MARS2	198278940	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.037000	0.13840	0.324000	0.23333	-0.797000	0.03246	TCG		0.577	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		10	88	0	0	0	1	0	10	88				
MYH7	4625	broad.mit.edu	37	14	23887443	23887443	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr14:23887443C>A	ENST00000355349.3	-	30	4307	c.4145G>T	c.(4144-4146)cGg>cTg	p.R1382L	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1382			R -> W (in CMH1). {ECO:0000269|PubMed:12707239}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCCTCAGTCCGCTGAATGGC	0.637																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4144-4146)cGg>cTg		myosin, heavy chain 7, cardiac muscle, beta							90.0	88.0	89.0					14																	23887443		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887443C>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4145G>T	14.37:g.23887443C>A	ENSP00000347507:p.Arg1382Leu						p.R1382L	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4307	-	all_cancers(95;2.54e-05)		1382		R -> W (in CMH1).			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4145G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671716	0.88348	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.80824	-1.42	4.83	4.83	0.62350	Myosin tail (1);	.	.	.	.	D	0.91646	0.7360	M	0.90082	3.085	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	D	0.93338	0.6707	9	0.87932	D	0	.	18.1069	0.89523	0.0:1.0:0.0:0.0	.	1382	P12883	MYH7_HUMAN	L	1382;1387	ENSP00000347507:R1382L	ENSP00000347507:R1382L	R	-	2	0	MYH7	22957283	0.991000	0.36638	0.993000	0.49108	0.888000	0.51559	5.694000	0.68272	2.520000	0.84964	0.655000	0.94253	CGG		0.637	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		12	79	1	0	0.00010058	1	0.000109724	12	79				
ZBBX	79740	broad.mit.edu	37	3	167068252	167068252	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr3:167068252G>A	ENST00000392766.2	-	9	824	c.484C>T	c.(484-486)Cac>Tac	p.H162Y	ZBBX_ENST00000307529.5_Missense_Mutation_p.H162Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.H133Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.H162Y|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.H162Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	162						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CCTTTCTGGTGAACTTTAGCA	0.308																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(484-486)Cac>Tac		zinc finger, B-box domain containing							180.0	175.0	177.0					3																	167068252		1813	4075	5888	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167068252G>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.484C>T	3.37:g.167068252G>A	ENSP00000376519:p.His162Tyr					ZBBX_ENST00000392767.2_Missense_Mutation_p.H162Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.H133Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.H162Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.H162Y|ZBBX_ENST00000469220.1_Intron	p.H162Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			9	824	-			162					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.484C>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002434	0.74932	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	D;D;D;D;D;T	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;0.16	5.54	5.54	0.83059	Zinc finger, B-box (1);	0.000000	0.33346	U	0.005015	D	0.97492	0.9179	M	0.73962	2.25	0.46203	D	0.99892	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97976	1.0346	10	0.72032	D	0.01	-7.3874	16.9884	0.86347	0.0:0.0:1.0:0.0	.	162;162	A8MT70-2;A8MT70	.;ZBBX_HUMAN	Y	162;162;162;162;133;162	ENSP00000376519:H162Y;ENSP00000376520:H162Y;ENSP00000390232:H162Y;ENSP00000305065:H162Y;ENSP00000376517:H133Y;ENSP00000419307:H162Y	ENSP00000305065:H162Y	H	-	1	0	ZBBX	168550946	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	6.373000	0.73128	2.599000	0.87857	0.460000	0.39030	CAC		0.308	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		8	145	0	0	0	1	0	8	145				
TEP1	7011	broad.mit.edu	37	14	20841840	20841840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr14:20841840C>T	ENST00000262715.5	-	45	6641	c.6601G>A	c.(6601-6603)Gca>Aca	p.A2201T	TEP1_ENST00000545983.1_Missense_Mutation_p.A539T|TEP1_ENST00000556935.1_Missense_Mutation_p.A2093T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2201					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTGTTACCTGCACGGGGCTCC	0.567																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6601-6603)Gca>Aca		telomerase-associated protein 1							93.0	86.0	88.0					14																	20841840		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841840C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6601G>A	14.37:g.20841840C>T	ENSP00000262715:p.Ala2201Thr					TEP1_ENST00000545983.1_Missense_Mutation_p.A539T|TEP1_ENST00000556935.1_Missense_Mutation_p.A2093T	p.A2201T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	45	6641	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2201					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.6601G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	4.343	0.063103	0.08388	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.57752	0.73;0.7;0.38	4.72	-0.735	0.11137	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.808624	0.11729	N	0.535098	T	0.19366	0.0465	N	0.03608	-0.345	0.20307	N	0.999914	B;B;B;B	0.20052	0.006;0.017;0.041;0.01	B;B;B;B	0.17979	0.003;0.02;0.016;0.009	T	0.22730	-1.0208	10	0.07175	T	0.84	.	2.4915	0.04611	0.2566:0.2887:0.3559:0.0988	.	539;2093;1544;2201	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	T	2201;2201;2093;539	ENSP00000262715:A2201T;ENSP00000452574:A2093T;ENSP00000438849:A539T	ENSP00000262715:A2201T	A	-	1	0	TEP1	19911680	0.049000	0.20398	0.168000	0.22838	0.138000	0.21146	-0.297000	0.08276	-0.059000	0.13154	-0.181000	0.13052	GCA		0.567	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		3	40	0	0	0	1	0	3	40				
CAPNS1	826	broad.mit.edu	37	19	36633596	36633596	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:36633596G>A	ENST00000246533.3	+	4	884	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CAPNS1_ENST00000588815.1_Missense_Mutation_p.E96K|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Intron|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E96K|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Missense_Mutation_p.E96K	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	96	EF-hand 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAACGAGAGTGAGGAGGTCCG	0.627																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(286-288)Gag>Aag		calpain, small subunit 1							132.0	137.0	135.0					19																	36633596		2203	4300	6503	SO:0001583	missense	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36633596G>A	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.286G>A	19.37:g.36633596G>A	ENSP00000246533:p.Glu96Lys					CAPNS1_ENST00000588780.1_Missense_Mutation_p.E96K|CAPNS1_ENST00000588815.1_Missense_Mutation_p.E96K|CAPNS1_ENST00000590874.1_Intron|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E96K	p.E96K	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	884	+	Esophageal squamous(110;0.162)		96			EF-hand 1; atypical.		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	37	c.286G>A	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	g	19.72	3.879383	0.72294	.	.	ENSG00000126247	ENST00000246533	T	0.56275	0.47	4.73	3.69	0.42338	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.49126	1.545	0.80722	D	1	P	0.43431	0.807	B	0.38985	0.287	T	0.48328	-0.9045	10	0.52906	T	0.07	.	11.1719	0.48577	0.0903:0.0:0.9097:0.0	.	96	P04632	CPNS1_HUMAN	K	96	ENSP00000246533:E96K	ENSP00000246533:E96K	E	+	1	0	CAPNS1	41325436	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	8.687000	0.91255	1.332000	0.45431	0.655000	0.94253	GAG		0.627	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			5	113	0	0	0	1	0	5	113				
HBD	3045	broad.mit.edu	37	11	5254314	5254314	+	Silent	SNP	G	G	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr11:5254314G>T	ENST00000380299.3	-	3	538	c.324C>A	c.(322-324)ggC>ggA	p.G108G	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	108					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCACATTGCCCAAGAGCT	0.502																																						ENST00000380299.3																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16						c.(322-324)ggC>ggA		hemoglobin, delta							99.0	84.0	89.0					11																	5254314		2201	4298	6499	SO:0001819	synonymous_variant	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5254314G>T	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.324C>A	11.37:g.5254314G>T						HBD_ENST00000292901.3_Intron	p.G108G	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	538	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	108					Q3Y5H3|Q8WXT7	Silent	SNP	ENST00000380299.3	37	c.324C>A	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	g	5.271	0.235358	0.10023	.	.	ENSG00000223609	ENST00000417377	D	0.88586	-2.4	4.81	-2.2	0.06994	.	.	.	.	.	D	0.86117	0.5856	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.80065	-0.1538	6	0.87932	D	0	-21.9645	1.1037	0.01689	0.2576:0.2797:0.3197:0.143	.	.	.	.	E	34	ENSP00000414741:A34E	ENSP00000414741:A34E	A	-	2	0	HBD	5210890	0.996000	0.38824	0.701000	0.30321	0.131000	0.20780	0.372000	0.20467	-0.169000	0.10834	0.655000	0.94253	GCA		0.502	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		4	46	1	0	0.00909568	1	0.00935556	4	46				
KRT40	125115	broad.mit.edu	37	17	39137270	39137270	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:39137270C>G	ENST00000398486.2	-	6	981	c.821G>C	c.(820-822)aGa>aCa	p.R274T	KRT40_ENST00000377755.4_Missense_Mutation_p.R274T	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	274	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TTCAGCTTCTCTGCGATTGTT	0.502																																						ENST00000377755.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(820-822)aGa>aCa		keratin 40							198.0	198.0	198.0					17																	39137270		1996	4190	6186	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39137270C>G	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.821G>C	17.37:g.39137270C>G	ENSP00000381500:p.Arg274Thr					KRT40_ENST00000398486.2_Missense_Mutation_p.R274T	p.R274T			Q6A162	K1C40_HUMAN			4	855	-		Breast(137;0.00043)	274			Coil 2.|Rod.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.821G>C	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527515	0.44969	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.88741	-2.42;-2.42	5.4	4.44	0.53790	Filament (1);	0.000000	0.36628	N	0.002484	D	0.92945	0.7755	M	0.75264	2.295	0.21147	N	0.999775	P	0.52316	0.952	D	0.72625	0.978	D	0.86034	0.1515	10	0.72032	D	0.01	.	8.9219	0.35617	0.0:0.7684:0.0:0.2316	.	274	Q6A162	K1C40_HUMAN	T	274	ENSP00000366984:R274T;ENSP00000381500:R274T	ENSP00000366984:R274T	R	-	2	0	KRT40	36390796	0.000000	0.05858	0.986000	0.45419	0.483000	0.33249	-0.333000	0.07894	1.414000	0.47017	0.655000	0.94253	AGA		0.502	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		9	192	0	0	0	1	0	9	192				
CYP4A22	284541	broad.mit.edu	37	1	47607877	47607877	+	Silent	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:47607877G>A	ENST00000371891.3	+	4	511	c.480G>A	c.(478-480)ggG>ggA	p.G160G	CYP4A22_ENST00000294337.3_Silent_p.G160G|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.G160G	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	160						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATACGTGGGGCTCATGGCAG	0.557																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(478-480)ggG>ggA		cytochrome P450, family 4, subfamily A, polypeptide 22							115.0	94.0	101.0					1																	47607877		2203	4300	6503	SO:0001819	synonymous_variant	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47607877G>A		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.480G>A	1.37:g.47607877G>A						CYP4A22_ENST00000294337.3_Silent_p.G160G|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.G160G|CYP4A22_ENST00000485117.1_3'UTR	p.G160G	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			4	511	+			160					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	ENST00000371891.3	37	c.480G>A	CCDS30707.1																																																																																				0.557	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		8	38	0	0	0	1	0	8	38				
WDR83	84292	broad.mit.edu	37	19	12780853	12780853	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:12780853C>T	ENST00000418543.3	+	4	515	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000222190.5_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.R56W|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	56					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						GAACCCGCTTCGGGGGACGCT	0.677																																						ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(166-168)Cgg>Tgg		WD repeat domain 83							46.0	51.0	50.0					19																	12780853		2203	4300	6503	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12780853C>T	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.166C>T	19.37:g.12780853C>T	ENSP00000402653:p.Arg56Trp					WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.R56W	p.R56W	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			4	515	+			56					B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.166C>T	CCDS12275.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671610	0.88348	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	D;D	0.81499	-1.5;-1.5	5.3	4.19	0.49359	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.318974	0.32901	N	0.005514	T	0.81226	0.4778	M	0.71206	2.165	0.41689	D	0.989339	D	0.65815	0.995	P	0.47528	0.549	D	0.83842	0.0258	10	0.72032	D	0.01	.	11.2071	0.48775	0.3279:0.6721:0.0:0.0	.	56	Q9BRX9	WDR83_HUMAN	W	56	ENSP00000402653:R56W;ENSP00000242796:R56W	ENSP00000242796:R56W	R	+	1	2	WDR83	12641853	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	1.902000	0.39848	2.636000	0.89361	0.655000	0.94253	CGG		0.677	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		5	91	0	0	0	1	0	5	91				
GJA5	2702	broad.mit.edu	37	1	147230868	147230868	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:147230868C>T	ENST00000271348.2	-	2	640	c.479G>A	c.(478-480)cGc>cAc	p.R160H	GJA5_ENST00000369237.1_Missense_Mutation_p.R160H|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	160					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CATGGTGGTGCGGATCAGGAT	0.587																																						ENST00000271348.2																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(478-480)cGc>cAc		gap junction protein, alpha 5, 40kDa							97.0	89.0	92.0					1																	147230868		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230868C>T		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.479G>A	1.37:g.147230868C>T	ENSP00000271348:p.Arg160His					GJA5_ENST00000369237.1_Missense_Mutation_p.R160H	p.R160H	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	640	-	all_hematologic(923;0.0276)		160					Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.479G>A	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189660	0.94923	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.98835	-5.17;-5.17;-5.15	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.99029	0.9668	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99902	1.1166	10	0.87932	D	0	.	19.798	0.96494	0.0:1.0:0.0:0.0	.	160	P36382	CXA5_HUMAN	H	160	ENSP00000271348:R160H;ENSP00000358240:R160H;ENSP00000407645:R160H	ENSP00000271348:R160H	R	-	2	0	GJA5	145697492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.677000	0.91161	0.563000	0.77884	CGC		0.587	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		14	68	0	0	0	1	0	14	68				
TTC30B	150737	broad.mit.edu	37	2	178416956	178416956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:178416956G>A	ENST00000408939.3	-	1	786	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	179				Missing (in Ref. 1; BAB70953). {ECO:0000305}.	cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTGCAGGGCGGCAAAAAACTT	0.542																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(535-537)gCc>gTc		tetratricopeptide repeat domain 30B							115.0	127.0	123.0					2																	178416956		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416956G>A	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.536C>T	2.37:g.178416956G>A	ENSP00000386181:p.Ala179Val						p.A179V	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	786	-			179	Missing (in Ref. 1; BAB70953).				Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.536C>T	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	G	7.756	0.704449	0.15172	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.60299	0.2	4.51	4.51	0.55191	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.247267	0.40818	N	0.001008	T	0.51312	0.1667	L	0.42245	1.32	0.20638	N	0.999874	B	0.14805	0.011	B	0.25759	0.063	T	0.45056	-0.9287	10	0.38643	T	0.18	.	14.578	0.68265	0.0:0.1577:0.8423:0.0	.	179	Q8N4P2	TT30B_HUMAN	V	132;179	ENSP00000386181:A179V	ENSP00000386181:A179V	A	-	2	0	TTC30B	178125202	0.007000	0.16637	0.731000	0.30826	0.099000	0.18886	1.796000	0.38794	2.487000	0.83934	0.655000	0.94253	GCC		0.542	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		5	136	0	0	0	1	0	5	136				
GNL2	29889	broad.mit.edu	37	1	38032593	38032593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:38032593G>A	ENST00000373062.3	-	16	2157	c.2059C>T	c.(2059-2061)Cga>Tga	p.R687*	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	687					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CGTTGCTGTCGTACTGCTCGC	0.418																																						ENST00000373062.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(2059-2061)Cga>Tga		guanine nucleotide binding protein-like 2 (nucleolar)							132.0	120.0	124.0					1																	38032593		2203	4300	6503	SO:0001587	stop_gained	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38032593G>A	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.2059C>T	1.37:g.38032593G>A	ENSP00000362153:p.Arg687*					GNL2_ENST00000462812.1_5'UTR	p.R687*	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN			16	2157	-		Myeloproliferative disorder(586;0.0393)	687					Q9BWN7	Nonsense_Mutation	SNP	ENST00000373062.3	37	c.2059C>T	CCDS421.1	.	.	.	.	.	.	.	.	.	.	G	36	5.935069	0.97122	.	.	ENSG00000134697	ENST00000373062	.	.	.	5.23	4.31	0.51392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2961	14.087	0.64964	0.0:0.0:0.7127:0.2873	.	.	.	.	X	687	.	ENSP00000362153:R687X	R	-	1	2	GNL2	37805180	1.000000	0.71417	0.866000	0.34008	0.390000	0.30446	5.972000	0.70448	1.332000	0.45431	0.561000	0.74099	CGA		0.418	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		6	65	0	0	0	1	0	6	65				
ZNF257	113835	broad.mit.edu	37	19	22270924	22270924	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:22270924G>C	ENST00000594947.1	+	4	516	c.372G>C	c.(370-372)aaG>aaC	p.K124N	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGAGTGTAAGGTGTGCAAAG	0.308																																						ENST00000594947.1																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(370-372)aaG>aaC		zinc finger protein 257							80.0	86.0	84.0					19																	22270924		2181	4290	6471	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22270924G>C	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.372G>C	19.37:g.22270924G>C	ENSP00000470209:p.Lys124Asn					ZNF257_ENST00000600162.1_3'UTR	p.K124N	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	516	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	124					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.372G>C	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	2.054	-0.417019	0.04766	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.926	0.926	0.19430	.	.	.	.	.	T	0.32285	0.0824	L	0.46614	1.455	0.09310	N	0.999998	B	0.17268	0.021	B	0.20384	0.029	T	0.27806	-1.0063	8	0.42905	T	0.14	.	4.9893	0.14205	0.0:0.0:1.0:0.0	.	124	Q9Y2Q1	ZN257_HUMAN	N	124	.	ENSP00000380312:K124N	K	+	3	2	ZNF257	22062764	0.000000	0.05858	0.429000	0.26710	0.545000	0.35147	-0.021000	0.12504	0.308000	0.22923	0.313000	0.20887	AAG		0.308	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			8	40	0	0	0	1	0	8	40				
ZFP14	57677	broad.mit.edu	37	19	36831910	36831910	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:36831910C>G	ENST00000270001.7	-	5	933	c.818G>C	c.(817-819)cGa>cCa	p.R273P		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCTCTGATGTCGAGCCAGTTG	0.433																																						ENST00000270001.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26						c.(817-819)cGa>cCa		ZFP14 zinc finger protein							92.0	99.0	96.0					19																	36831910		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831910C>G	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.818G>C	19.37:g.36831910C>G	ENSP00000270001:p.Arg273Pro						p.R273P	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN			5	933	-	Esophageal squamous(110;0.162)		273					A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.818G>C	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	12.85	2.060953	0.36373	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.26810	1.71	4.07	3.03	0.35002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37348	N	0.002124	T	0.43722	0.1260	M	0.82923	2.615	0.18873	N	0.999983	D;B	0.67145	0.996;0.073	D;B	0.67725	0.953;0.143	T	0.31724	-0.9933	10	0.49607	T	0.09	.	3.2544	0.06826	0.2395:0.5819:0.0:0.1786	.	273;273	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	P	273	ENSP00000270001:R273P	ENSP00000270001:R273P	R	-	2	0	ZFP14	41523750	0.000000	0.05858	0.998000	0.56505	0.991000	0.79684	-0.574000	0.05868	2.259000	0.74868	0.549000	0.68633	CGA		0.433	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		4	76	0	0	0	1	0	4	76				
PRPF8	10594	broad.mit.edu	37	17	1582344	1582344	+	Silent	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:1582344G>A	ENST00000572621.1	-	10	1831	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	PRPF8_ENST00000304992.6_Silent_p.F522F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	522					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTTGAGGTTGAAGTTGTAGT	0.547																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(1564-1566)ttC>ttT		pre-mRNA processing factor 8							187.0	170.0	176.0					17																	1582344		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1582344G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1566C>T	17.37:g.1582344G>A						PRPF8_ENST00000304992.6_Silent_p.F522F	p.F522F			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	10	1831	-			522					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.1566C>T	CCDS11010.1																																																																																				0.547	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			7	122	0	0	0	1	0	7	122				
CRB2	286204	broad.mit.edu	37	9	126132531	126132531	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr9:126132531G>T	ENST00000373631.3	+	7	1200	c.1199G>T	c.(1198-1200)tGc>tTc	p.C400F	CRB2_ENST00000359999.3_Missense_Mutation_p.C400F|CRB2_ENST00000373629.2_Missense_Mutation_p.C68F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	400	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTCACTGGCTGCCAGGGCCAC	0.642																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1198-1200)tGc>tTc		crumbs homolog 2 (Drosophila)							34.0	39.0	37.0					9																	126132531		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132531G>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1199G>T	9.37:g.126132531G>T	ENSP00000362734:p.Cys400Phe					CRB2_ENST00000359999.3_Missense_Mutation_p.C400F|CRB2_ENST00000373629.2_Missense_Mutation_p.C68F	p.C400F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			7	1200	+			400			EGF-like 9.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1199G>T	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896605	0.72639	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.90844	-2.74;-2.74;-2.17	4.69	4.69	0.59074	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.47093	D	0.000259	D	0.97570	0.9204	H	0.99104	4.43	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.959;0.987	D	0.99858	1.1080	10	0.87932	D	0	.	17.6143	0.88064	0.0:0.0:1.0:0.0	.	400;400	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	F	400;400;68	ENSP00000353092:C400F;ENSP00000362734:C400F;ENSP00000362732:C68F	ENSP00000353092:C400F	C	+	2	0	CRB2	125172352	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	8.957000	0.93082	2.149000	0.67028	0.448000	0.29417	TGC		0.642	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		4	40	1	0	1	1	1	4	40				
RGAG4	340526	broad.mit.edu	37	X	71350365	71350365	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:71350365C>G	ENST00000545866.1	-	1	1393	c.1026G>C	c.(1024-1026)gaG>gaC	p.E342D	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.E342D	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	342										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CACTGTAGTACTCTTCATCTT	0.507																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(1024-1026)gaG>gaC		retrotransposon gag domain containing 4							60.0	55.0	57.0					X																	71350365		2001	4161	6162	SO:0001583	missense	340526							g.chrX:71350365C>G	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1026G>C	X.37:g.71350365C>G	ENSP00000441366:p.Glu342Asp					NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.E342D	p.E342D			Q5HYW3	RGAG4_HUMAN			1	1393	-	Renal(35;0.156)		342					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.1026G>C	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786680	0.49997	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.15017	2.46;2.46	3.97	3.1	0.35709	.	.	.	.	.	T	0.08537	0.0212	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.35699	-0.9778	8	.	.	.	-1.2324	4.7279	0.12950	0.0:0.6576:0.2211:0.1213	.	342	Q5HYW3	RGAG4_HUMAN	D	342	ENSP00000441366:E342D;ENSP00000418667:E342D	.	E	-	3	2	RGAG4	71267090	0.000000	0.05858	0.015000	0.15790	0.882000	0.50991	-0.257000	0.08745	1.015000	0.39444	0.600000	0.82982	GAG		0.507	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		9	28	0	0	0	1	0	9	28				
C3orf58	205428	broad.mit.edu	37	3	143691330	143691330	+	Silent	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr3:143691330C>T	ENST00000315691.3	+	1	691	c.156C>T	c.(154-156)ctC>ctT	p.L52L	C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	52					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCTGCAGCTCAATAAGTGCC	0.677																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(154-156)ctC>ctT		chromosome 3 open reading frame 58							18.0	20.0	19.0					3																	143691330		2187	4276	6463	SO:0001819	synonymous_variant	205428					COPI vesicle coat|extracellular region		g.chr3:143691330C>T	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.156C>T	3.37:g.143691330C>T							p.L52L	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			1	691	+			52					B2RCF2|B7Z1W3	Silent	SNP	ENST00000315691.3	37	c.156C>T	CCDS3130.1																																																																																				0.677	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		3	37	0	0	0	1	0	3	37				
SIAH2	6478	broad.mit.edu	37	3	150460339	150460339	+	Silent	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr3:150460339G>C	ENST00000312960.3	-	2	1091	c.564C>G	c.(562-564)ctC>ctG	p.L188L		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	188	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGGCGTGCATGAGATGGGACA	0.532																																						ENST00000312960.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16						c.(562-564)ctC>ctG		siah E3 ubiquitin protein ligase 2							128.0	114.0	118.0					3																	150460339		2203	4300	6503	SO:0001819	synonymous_variant	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150460339G>C	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.564C>G	3.37:g.150460339G>C							p.L188L	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	1091	-			188			SBD.		O43270	Silent	SNP	ENST00000312960.3	37	c.564C>G	CCDS3152.1																																																																																				0.532	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		13	90	0	0	0	1	0	13	90				
UGT2B4	7363	broad.mit.edu	37	4	70361281	70361281	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr4:70361281A>G	ENST00000305107.6	-	1	345	c.299T>C	c.(298-300)cTt>cCt	p.L100P	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.L100P|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	100					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GTCTTTTGGAAGTTCTGCCCA	0.323																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(298-300)cTt>cCt		UDP glucuronosyltransferase 2 family, polypeptide B4							53.0	51.0	51.0					4																	70361281		1999	4211	6210	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361281A>G	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.299T>C	4.37:g.70361281A>G	ENSP00000305221:p.Leu100Pro					UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.L100P	p.L100P	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			1	345	-			100					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.299T>C	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	A	11.08	1.532781	0.27387	.	.	ENSG00000156096	ENST00000512583;ENST00000305107	T;T	0.59906	0.23;0.23	2.41	-0.814	0.10846	.	12.599000	0.02153	U	0.058195	T	0.47040	0.1424	N	0.12182	0.205	0.09310	N	1	B;P	0.44877	0.046;0.845	B;P	0.50049	0.033;0.629	T	0.38845	-0.9642	10	0.44086	T	0.13	.	3.7721	0.08646	0.5821:0.2106:0.0:0.2073	.	100;100	G5E9X8;P06133	.;UD2B4_HUMAN	P	100	ENSP00000421290:L100P;ENSP00000305221:L100P	ENSP00000305221:L100P	L	-	2	0	UGT2B4	70395870	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.513000	0.22770	0.148000	0.19059	0.254000	0.18369	CTT		0.323	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		4	27	0	0	0	1	0	4	27				
MROH2B	133558	broad.mit.edu	37	5	41045928	41045928	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:41045928T>G	ENST00000399564.4	-	18	2206	c.1756A>C	c.(1756-1758)Agt>Cgt	p.S586R	MROH2B_ENST00000506092.2_Missense_Mutation_p.S141R	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	586																	GCCACATCACTGATCTTCCAT	0.418																																						ENST00000399564.4																			0											c.(1756-1758)Agt>Cgt		maestro heat-like repeat family member 2B							203.0	197.0	199.0					5																	41045928		1983	4163	6146	SO:0001583	missense	133558							g.chr5:41045928T>G		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1756A>C	5.37:g.41045928T>G	ENSP00000382476:p.Ser586Arg					MROH2B_ENST00000506092.2_Missense_Mutation_p.S141R	p.S586R	NM_173489.4	NP_775760.3					18	2206	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1756A>C	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	4.771	0.143409	0.09134	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.49432	2.91;0.78	5.51	0.502	0.16932	Armadillo-type fold (1);	1.178000	0.06044	N	0.655444	T	0.32793	0.0841	N	0.24115	0.695	0.09310	N	1	B	0.31859	0.343	B	0.30646	0.118	T	0.20806	-1.0264	10	0.21014	T	0.42	.	9.2451	0.37520	0.0:0.3204:0.0:0.6796	.	586	Q7Z745	HTRB2_HUMAN	R	141;291;586	ENSP00000441504:S141R;ENSP00000382476:S586R	ENSP00000296803:S291R	S	-	1	0	HEATR7B2	41081685	0.013000	0.17824	0.012000	0.15200	0.003000	0.03518	0.044000	0.13992	-0.413000	0.07507	-1.463000	0.01021	AGT		0.418	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		13	109	0	0	0	1	0	13	109				
CLUH	23277	broad.mit.edu	37	17	2604761	2604761	+	Silent	SNP	C	C	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:2604761C>A	ENST00000570628.2	-	6	789	c.684G>T	c.(682-684)ggG>ggT	p.G228G	CLUH_ENST00000538975.1_Silent_p.G228G|CLUH_ENST00000435359.1_Silent_p.G228G			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	228					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											TCTTCCGGTTCCCCGGGGGCG	0.632																																						ENST00000570628.1																			0											c.(682-684)ggG>ggT		clustered mitochondria (cluA/CLU1) homolog							27.0	34.0	32.0					17																	2604761		2023	4173	6196	SO:0001819	synonymous_variant	23277							g.chr17:2604761C>A	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.684G>T	17.37:g.2604761C>A						CLUH_ENST00000575014.1_Silent_p.G160G|CLUH_ENST00000435359.1_Silent_p.G228G|CLUH_ENST00000538975.1_Silent_p.G228G	p.G228G							6	789	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	ENST00000570628.2	37	c.684G>T	CCDS45572.1																																																																																				0.632	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		3	19	1	0	0.004672	1	0.00485169	3	19				
FRS3	10817	broad.mit.edu	37	6	41738930	41738930	+	Silent	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:41738930C>G	ENST00000373018.3	-	7	1157	c.906G>C	c.(904-906)ctG>ctC	p.L302L	FRS3_ENST00000259748.2_Silent_p.L302L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	302					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTCTGGGCTCAGTCTCCAGC	0.647																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(904-906)ctG>ctC		fibroblast growth factor receptor substrate 3							35.0	37.0	36.0					6																	41738930		2203	4300	6503	SO:0001819	synonymous_variant	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738930C>G	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.906G>C	6.37:g.41738930C>G						FRS3_ENST00000259748.2_Silent_p.L302L	p.L302L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1157	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		302					Q5T3D5	Silent	SNP	ENST00000373018.3	37	c.906G>C	CCDS4860.1																																																																																				0.647	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		3	36	0	0	0	1	0	3	36				
HCN1	348980	broad.mit.edu	37	5	45267295	45267295	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:45267295C>T	ENST00000303230.4	-	7	1736	c.1679G>A	c.(1678-1680)cGt>cAt	p.R560H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	560					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAGTAAAGACGACAATATGT	0.433																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1678-1680)cGt>cAt		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							162.0	146.0	152.0					5																	45267295		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267295C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1679G>A	5.37:g.45267295C>T	ENSP00000307342:p.Arg560His						p.R560H	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			7	1736	-			560						Missense_Mutation	SNP	ENST00000303230.4	37	c.1679G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434438	0.83776	.	.	ENSG00000164588	ENST00000303230	D	0.92911	-3.13	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000002	D	0.87585	0.6214	L	0.40543	1.245	0.80722	D	1	P	0.44816	0.844	B	0.29942	0.109	D	0.88567	0.3127	10	0.56958	D	0.05	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	560	O60741	HCN1_HUMAN	H	560	ENSP00000307342:R560H	ENSP00000307342:R560H	R	-	2	0	HCN1	45303052	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.487000	0.81328	2.813000	0.96785	0.655000	0.94253	CGT		0.433	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		8	81	0	0	0	1	0	8	81				
ERP27	121506	broad.mit.edu	37	12	15068572	15068572	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:15068572T>A	ENST00000266397.2	-	6	1198	c.625A>T	c.(625-627)Ata>Tta	p.I209L	ERP27_ENST00000544881.1_5'Flank|ERP27_ENST00000540097.1_Missense_Mutation_p.I108L	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	209						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						AAAAATGATATCACCTTCCCA	0.433																																						ENST00000266397.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						c.(625-627)Ata>Tta		endoplasmic reticulum protein 27							88.0	84.0	85.0					12																	15068572		2203	4300	6503	SO:0001583	missense	121506					endoplasmic reticulum lumen		g.chr12:15068572T>A	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.625A>T	12.37:g.15068572T>A	ENSP00000266397:p.Ile209Leu					ERP27_ENST00000540097.1_Missense_Mutation_p.I108L	p.I209L	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN			6	1198	-			209						Missense_Mutation	SNP	ENST00000266397.2	37	c.625A>T	CCDS8670.1	.	.	.	.	.	.	.	.	.	.	T	4.692	0.128607	0.08981	.	.	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.20598	2.06;2.06	4.79	1.19	0.21007	Thioredoxin-like fold (1);	0.378699	0.30667	N	0.009121	T	0.11410	0.0278	L	0.36672	1.1	0.25741	N	0.98517	B	0.21688	0.059	B	0.22386	0.039	T	0.38436	-0.9661	10	0.02654	T	1	-1.6232	6.4649	0.21975	0.0:0.2854:0.0:0.7146	.	209	Q96DN0	ERP27_HUMAN	L	209;108	ENSP00000266397:I209L;ENSP00000440573:I108L	ENSP00000266397:I209L	I	-	1	0	ERP27	14959839	0.996000	0.38824	0.965000	0.40720	0.910000	0.53928	0.753000	0.26376	0.207000	0.20607	0.533000	0.62120	ATA		0.433	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321		9	46	0	0	0	1	0	9	46				
DHX16	8449	broad.mit.edu	37	6	30622988	30622988	+	Silent	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:30622988G>C	ENST00000376442.3	-	18	2982	c.2787C>G	c.(2785-2787)ctC>ctG	p.L929L	DHX16_ENST00000376437.5_Silent_p.L448L	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	929					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GGCAGGAACTGAGACCAACTT	0.557																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(2785-2787)ctC>ctG		DEAH (Asp-Glu-Ala-His) box polypeptide 16							136.0	124.0	128.0					6																	30622988		2203	4300	6503	SO:0001819	synonymous_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30622988G>C	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.2787C>G	6.37:g.30622988G>C						DHX16_ENST00000376437.5_Silent_p.L448L	p.L929L	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			18	2982	-			929					O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	c.2787C>G	CCDS4685.1																																																																																				0.557	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		5	97	0	0	0	1	0	5	97				
DLC1	10395	broad.mit.edu	37	8	13357060	13357060	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:13357060A>T	ENST00000276297.4	-	2	930	c.521T>A	c.(520-522)cTg>cAg	p.L174Q	DLC1_ENST00000511869.1_Missense_Mutation_p.L174Q|DLC1_ENST00000316609.5_Missense_Mutation_p.L174Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	174					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTCTTTTACCAGTGCTAATTC	0.403																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(520-522)cTg>cAg		deleted in liver cancer 1							123.0	128.0	126.0					8																	13357060		2203	4299	6502	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13357060A>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.521T>A	8.37:g.13357060A>T	ENSP00000276297:p.Leu174Gln					DLC1_ENST00000316609.5_Missense_Mutation_p.L174Q|DLC1_ENST00000511869.1_Missense_Mutation_p.L174Q	p.L174Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			2	930	-			174					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.521T>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	A	8.564	0.878462	0.17395	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.28454	1.61;1.61;1.61	4.97	2.17	0.27698	.	0.488479	0.15256	N	0.272080	T	0.37376	0.1001	L	0.42245	1.32	0.09310	N	1	B;D;B	0.65815	0.4;0.995;0.048	B;D;B	0.63381	0.173;0.914;0.006	T	0.11717	-1.0576	10	0.54805	T	0.06	.	3.5665	0.07901	0.3981:0.0:0.4171:0.1847	.	174;174;174	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	Q	174	ENSP00000276297:L174Q;ENSP00000321034:L174Q;ENSP00000425878:L174Q	ENSP00000276297:L174Q	L	-	2	0	DLC1	13401431	0.002000	0.14202	0.001000	0.08648	0.062000	0.15995	1.001000	0.29783	0.523000	0.28482	0.533000	0.62120	CTG		0.403	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	155	0	0	0	1	0	8	155				
SSH1	54434	broad.mit.edu	37	12	109181855	109181855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:109181855C>T	ENST00000326495.5	-	15	3152	c.3059G>A	c.(3058-3060)gGa>gAa	p.G1020E	SSH1_ENST00000360239.3_Missense_Mutation_p.G708E	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1020	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTCGGGGTTCCCTGGGGCTC	0.567																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3058-3060)gGa>gAa		slingshot protein phosphatase 1							107.0	112.0	110.0					12																	109181855		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109181855C>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.3059G>A	12.37:g.109181855C>T	ENSP00000315713:p.Gly1020Glu					SSH1_ENST00000360239.3_Missense_Mutation_p.G708E	p.G1020E	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	3152	-			1020			Interaction with YWHAG.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.3059G>A	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797019	0.70567	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12774	2.83;2.65	5.27	-1.24	0.09435	.	2.841550	0.01072	N	0.004836	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	B;B	0.22211	0.0;0.066	B;B	0.18561	0.0;0.022	T	0.19224	-1.0312	10	0.02654	T	1	-0.8501	1.9214	0.03308	0.2989:0.346:0.2384:0.1168	.	1020;708	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	E	708;1020	ENSP00000353374:G708E;ENSP00000315713:G1020E	ENSP00000315713:G1020E	G	-	2	0	SSH1	107705984	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.464000	0.21988	-0.388000	0.07797	-0.752000	0.03492	GGA		0.567	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		11	133	0	0	0	1	0	11	133				
ABCG4	64137	broad.mit.edu	37	11	119025526	119025526	+	Missense_Mutation	SNP	C	C	T	rs151176056		TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr11:119025526C>T	ENST00000449422.2	+	6	775	c.587C>T	c.(586-588)aCg>aTg	p.T196M	ABCG4_ENST00000531739.1_Missense_Mutation_p.T196M|ABCG4_ENST00000307417.3_Missense_Mutation_p.T196M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	196	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCTCCCACACGAGGACAGCC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		17325	0.0		0.001	False		,,,				2504	0.0					ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(586-588)aCg>aTg		ATP-binding cassette, sub-family G (WHITE), member 4		C	MET/THR,MET/THR	1,4399	2.1+/-5.4	0,1,2199	110.0	103.0	105.0		587,587	5.1	1.0	11	dbSNP_134	105	14,8576	9.8+/-36.6	0,14,4281	yes	missense,missense	ABCG4	NM_001142505.1,NM_022169.4	81,81	0,15,6480	TT,TC,CC		0.163,0.0227,0.1155	probably-damaging,probably-damaging	196/647,196/647	119025526	15,12975	2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119025526C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.587C>T	11.37:g.119025526C>T	ENSP00000406874:p.Thr196Met					ABCG4_ENST00000449422.2_Missense_Mutation_p.T196M|ABCG4_ENST00000531739.1_Missense_Mutation_p.T196M	p.T196M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	951	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	196			ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.587C>T	CCDS8415.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.4	4.917032	0.92249	2.27E-4	0.00163	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	D;D;D	0.85484	-1.99;-1.99;-1.99	5.11	5.11	0.69529	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.097518	0.64402	D	0.000001	D	0.93259	0.7852	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.94194	0.7444	10	0.66056	D	0.02	-21.0468	18.5216	0.90954	0.0:1.0:0.0:0.0	.	196	Q9H172	ABCG4_HUMAN	M	196	ENSP00000304111:T196M;ENSP00000406874:T196M;ENSP00000434318:T196M	ENSP00000304111:T196M	T	+	2	0	ABCG4	118530736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.079000	0.71291	2.386000	0.81285	0.491000	0.48974	ACG		0.642	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		5	124	0	0	0	1	0	5	124				
KPNA6	23633	broad.mit.edu	37	1	32622536	32622536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:32622536C>G	ENST00000373625.3	+	3	314	c.221C>G	c.(220-222)tCt>tGt	p.S74C	KPNA6_ENST00000545542.1_Missense_Mutation_p.S79C|KPNA6_ENST00000537234.1_Missense_Mutation_p.S71C|KPNA6_ENST00000469790.1_3'UTR	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	74					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TATGTGAGCTCTACCACTGGG	0.468																																						ENST00000373625.3																			0				large_intestine(2)	2						c.(220-222)tCt>tGt		karyopherin alpha 6 (importin alpha 7)							124.0	114.0	118.0					1																	32622536		2203	4300	6503	SO:0001583	missense	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32622536C>G	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.221C>G	1.37:g.32622536C>G	ENSP00000362728:p.Ser74Cys					KPNA6_ENST00000545542.1_Missense_Mutation_p.S79C|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Missense_Mutation_p.S71C	p.S74C	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN			3	314	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	74					B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	c.221C>G	CCDS352.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455469	0.84209	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.33216	1.42;1.42;1.42;2.3	5.39	4.46	0.54185	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	1.566400	0.03593	N	0.232211	T	0.56645	0.1999	M	0.67700	2.07	0.80722	D	1	D;D;B	0.63046	0.99;0.992;0.015	P;P;B	0.58520	0.753;0.84;0.033	T	0.23084	-1.0198	10	0.59425	D	0.04	-8.6998	16.3381	0.83073	0.0:0.8678:0.1322:0.0	.	79;79;74	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	C	74;48;71;79;25	ENSP00000362728:S74C;ENSP00000444930:S71C;ENSP00000440609:S79C;ENSP00000415677:S25C	ENSP00000362719:S48C	S	+	2	0	KPNA6	32395123	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.731000	0.84895	1.388000	0.46506	0.655000	0.94253	TCT		0.468	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		4	62	0	0	0	1	0	4	62				
SLC36A1	206358	broad.mit.edu	37	5	150847313	150847313	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:150847313G>C	ENST00000243389.3	+	7	773	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	SLC36A1_ENST00000521925.1_Missense_Mutation_p.E184Q|SLC36A1_ENST00000520701.1_Missense_Mutation_p.E184Q|SLC36A1_ENST00000429484.2_Missense_Mutation_p.E184Q	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	184					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CCACAACAATGAGACGGTGAT	0.532																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(550-552)Gag>Cag		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)						261.0	236.0	244.0					5																	150847313		2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150847313G>C	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.550G>C	5.37:g.150847313G>C	ENSP00000243389:p.Glu184Gln					SLC36A1_ENST00000521925.1_Missense_Mutation_p.E184Q|SLC36A1_ENST00000520701.1_Missense_Mutation_p.E184Q|SLC36A1_ENST00000429484.2_Missense_Mutation_p.E184Q	p.E184Q	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	773	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	184					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.550G>C	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221180	0.39201	.	.	ENSG00000123643	ENST00000520701;ENST00000429484;ENST00000243389;ENST00000456739;ENST00000521925	T;T;T;T	0.18174	3.73;2.23;3.73;2.72	5.69	4.81	0.61882	.	0.212075	0.49305	D	0.000144	T	0.16514	0.0397	L	0.41710	1.295	0.31798	N	0.628786	B;B	0.14805	0.005;0.011	B;B	0.29267	0.026;0.1	T	0.05517	-1.0880	10	0.27785	T	0.31	.	12.4531	0.55688	0.1326:0.0:0.8674:0.0	.	184;184	E7EW39;Q7Z2H8	.;S36A1_HUMAN	Q	184	ENSP00000428140:E184Q;ENSP00000395640:E184Q;ENSP00000243389:E184Q;ENSP00000430305:E184Q	ENSP00000243389:E184Q	E	+	1	0	SLC36A1	150827506	0.989000	0.36119	0.956000	0.39512	0.865000	0.49528	2.188000	0.42612	2.664000	0.90586	0.655000	0.94253	GAG		0.532	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		6	97	0	0	0	1	0	6	97				
KRT73	319101	broad.mit.edu	37	12	53004410	53004410	+	Silent	SNP	G	G	A	rs149745115	byFrequency	TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:53004410G>A	ENST00000305748.3	-	7	1354	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	440	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCACTCCTCGCCCTCCAGCA	0.617													G|||	5	0.000998403	0.0	0.0	5008	,	,		13628	0.002		0.003	False		,,,				2504	0.0					ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1318-1320)ggC>ggT		keratin 73		G		2,4404	4.2+/-10.8	0,2,2201	77.0	69.0	72.0		1320	3.6	1.0	12	dbSNP_134	72	42,8558	28.5+/-78.6	0,42,4258	no	coding-synonymous	KRT73	NM_175068.2		0,44,6459	AA,AG,GG		0.4884,0.0454,0.3383		440/541	53004410	44,12962	2203	4300	6503	SO:0001819	synonymous_variant	319101					keratin filament	structural molecule activity	g.chr12:53004410G>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1320C>T	12.37:g.53004410G>A						RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	p.G440G	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1354	-			440			Coil 2.|Rod.		Q32MB2	Silent	SNP	ENST00000305748.3	37	c.1320C>T	CCDS8834.1																																																																																				0.617	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		4	50	0	0	0	1	0	4	50				
SPEN	23013	broad.mit.edu	37	1	16245988	16245988	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:16245988C>G	ENST00000375759.3	+	8	1815	c.1611C>G	c.(1609-1611)ttC>ttG	p.F537L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	537	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACGACATTTCTGCCGATATG	0.453																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(1609-1611)ttC>ttG		spen family transcriptional repressor							178.0	172.0	174.0					1																	16245988		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16245988C>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1611C>G	1.37:g.16245988C>G	ENSP00000364912:p.Phe537Leu						p.F537L	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	8	1815	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	537			RRM 4.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.1611C>G	CCDS164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.435865|4.435865	0.83885|0.83885	.|.	.|.	ENSG00000065526|ENSG00000065526	ENST00000375759|ENST00000442985	T|.	0.11604|.	2.76|.	5.81|5.81	4.9|4.9	0.64082|0.64082	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.79845|0.79845	0.4516|0.4516	M|M	0.91140|0.91140	3.18|3.18	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.83293|0.83293	-0.0032|-0.0032	9|5	0.56958|.	D|.	0.05|.	-7.2082|-7.2082	11.0492|11.0492	0.47876|0.47876	0.0:0.8583:0.0:0.1417|0.0:0.8583:0.0:0.1417	.|.	537|.	Q96T58|.	MINT_HUMAN|.	L|C	537|277	ENSP00000364912:F537L|.	ENSP00000364912:F537L|.	F|S	+|+	3|2	2|0	SPEN|SPEN	16118575|16118575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	1.398000|1.398000	0.34554|0.34554	1.468000|1.468000	0.48064|0.48064	0.467000|0.467000	0.42956|0.42956	TTC|TCT		0.453	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		5	96	0	0	0	1	0	5	96				
TRIM11	81559	broad.mit.edu	37	1	228582764	228582764	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:228582764T>C	ENST00000284551.6	-	6	1327	c.1049A>G	c.(1048-1050)gAc>gGc	p.D350G	TRIM11_ENST00000493030.2_Missense_Mutation_p.D225G|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	350	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCTGGTGCGGTCCCCAACCTC	0.687																																						ENST00000493030.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18						c.(673-675)gAc>gGc		tripartite motif containing 11							53.0	53.0	53.0					1																	228582764		2203	4300	6503	SO:0001583	missense	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228582764T>C	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.1049A>G	1.37:g.228582764T>C	ENSP00000284551:p.Asp350Gly					TRIM11_ENST00000284551.6_Missense_Mutation_p.D350G|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR	p.D225G			Q96F44	TRI11_HUMAN			5	4383	-		Prostate(94;0.0724)	350					A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	c.674A>G	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854191	0.32791	.	.	ENSG00000154370	ENST00000284551	T	0.60040	0.22	5.17	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.372399	0.22986	N	0.053256	T	0.41719	0.1171	L	0.31752	0.955	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.16289	0.003;0.015	T	0.16305	-1.0407	10	0.20519	T	0.43	.	9.3007	0.37845	0.0:0.0861:0.0:0.9139	.	349;350	Q96F44-3;Q96F44	.;TRI11_HUMAN	G	350	ENSP00000284551:D350G	ENSP00000284551:D350G	D	-	2	0	TRIM11	226649387	0.013000	0.17824	0.618000	0.29105	0.899000	0.52679	1.334000	0.33827	0.927000	0.37143	-0.250000	0.11733	GAC		0.687	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		5	50	0	0	0	1	0	5	50				
MLST8	64223	broad.mit.edu	37	16	2257314	2257314	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr16:2257314G>A	ENST00000569417.1	+	6	895	c.541G>A	c.(541-543)Gac>Aac	p.D181N	MLST8_ENST00000301725.7_Missense_Mutation_p.D200N|MLST8_ENST00000565250.1_Missense_Mutation_p.D181N|MLST8_ENST00000382450.4_Missense_Mutation_p.D180N|MLST8_ENST00000397124.1_Missense_Mutation_p.D181N|MLST8_ENST00000564088.1_Missense_Mutation_p.D181N|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000301724.10_Missense_Mutation_p.D181N|MLST8_ENST00000561651.1_3'UTR	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	181					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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						CATCGATCCCGACGCCAGCTA	0.627																																						ENST00000569417.1																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(541-543)Gac>Aac		MTOR associated protein, LST8 homolog (S. cerevisiae)							136.0	151.0	146.0					16																	2257314		2163	4263	6426	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2257314G>A		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.541G>A	16.37:g.2257314G>A	ENSP00000456405:p.Asp181Asn					MLST8_ENST00000382450.4_Missense_Mutation_p.D180N|MLST8_ENST00000565250.1_Missense_Mutation_p.D181N|MLST8_ENST00000301725.7_Missense_Mutation_p.D200N|MLST8_ENST00000397124.1_Missense_Mutation_p.D181N|MLST8_ENST00000301724.10_Missense_Mutation_p.D181N|MLST8_ENST00000564088.1_Missense_Mutation_p.D181N|MLST8_ENST00000561651.1_3'UTR	p.D181N	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN			6	895	+			181					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.541G>A	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998779	0.74818	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T	0.68624	1.31;0.71;-0.34	4.21	4.21	0.49690	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	L	0.58583	1.82	0.80722	D	1	D;P;B	0.76494	0.999;0.948;0.107	D;B;B	0.74023	0.982;0.306;0.011	T	0.80158	-0.1499	10	0.56958	D	0.05	-29.3123	15.1242	0.72469	0.0:0.0:1.0:0.0	.	200;115;181	Q9BVC4-4;Q9BVC4-3;Q9BVC4	.;.;LST8_HUMAN	N	181;181;181;200	ENSP00000301724:D181N;ENSP00000380313:D181N;ENSP00000301725:D200N	ENSP00000301724:D181N	D	+	1	0	MLST8	2197315	1.000000	0.71417	0.722000	0.30670	0.378000	0.30076	9.804000	0.99143	1.875000	0.54330	0.462000	0.41574	GAC		0.627	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		12	121	0	0	0	1	0	12	121				
ADORA2A	135	broad.mit.edu	37	22	24836656	24836656	+	Silent	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr22:24836656C>T	ENST00000337539.7	+	3	897	c.438C>T	c.(436-438)tgC>tgT	p.C146C	ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A_ENST00000496497.1_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	146					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GGAACAACTGCGGTCAGCCAA	0.587																																						ENST00000337539.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21						c.(436-438)tgC>tgT		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						189.0	184.0	186.0					22																	24836656		2203	4300	6503	SO:0001819	synonymous_variant	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24836656C>T	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.438C>T	22.37:g.24836656C>T						ADORA2A-AS1_ENST00000543438.1_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_3'UTR	p.C146C	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN			3	897	+	Colorectal(2;0.196)		146					B2R7E0	Silent	SNP	ENST00000337539.7	37	c.438C>T	CCDS13826.1																																																																																				0.587	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		74	208	0	0	0	1	0	74	208				
SLFN5	162394	broad.mit.edu	37	17	33592888	33592888	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:33592888T>C	ENST00000299977.4	+	5	2805	c.2657T>C	c.(2656-2658)aTt>aCt	p.I886T	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	886					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CATCTGTATATTCTGAAGGCT	0.423																																						ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(2656-2658)aTt>aCt		schlafen family member 5							46.0	51.0	49.0					17																	33592888		2203	4299	6502	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33592888T>C	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2657T>C	17.37:g.33592888T>C	ENSP00000299977:p.Ile886Thr					SLFN5_ENST00000542451.1_3'UTR	p.I886T	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	5	2805	+		Ovarian(249;0.17)	886					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.2657T>C	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	t	16.60	3.169613	0.57584	.	.	ENSG00000166750	ENST00000299977	D	0.85411	-1.98	3.46	3.46	0.39613	.	0.000000	0.37304	N	0.002156	D	0.89856	0.6836	M	0.71206	2.165	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.89774	0.3956	10	0.87932	D	0	.	8.5002	0.33152	0.0:0.0:0.0:1.0	.	886	Q08AF3	SLFN5_HUMAN	T	886	ENSP00000299977:I886T	ENSP00000299977:I886T	I	+	2	0	SLFN5	30617001	.	.	0.959000	0.39883	0.190000	0.23558	.	.	1.579000	0.49836	0.533000	0.62120	ATT		0.423	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		9	57	0	0	0	1	0	9	57				
ABCA1	19	broad.mit.edu	37	9	107556779	107556779	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr9:107556779T>C	ENST00000374736.3	-	40	5789	c.5395A>G	c.(5395-5397)Atc>Gtc	p.I1799V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1799					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ATATCATTGATATTATTCAGC	0.418																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(5395-5397)Atc>Gtc		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						48.0	45.0	46.0					9																	107556779		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107556779T>C	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5395A>G	9.37:g.107556779T>C	ENSP00000363868:p.Ile1799Val						p.I1799V	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	40	5789	-			1799					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.5395A>G	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	4.408	0.075323	0.08485	.	.	ENSG00000165029	ENST00000374736	D	0.82526	-1.62	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	N	0.21324	0.655	0.80722	D	1	B	0.11235	0.004	B	0.16289	0.015	T	0.65323	-0.6196	10	0.02654	T	1	.	15.8942	0.79323	0.0:0.0:0.0:1.0	.	1799	O95477	ABCA1_HUMAN	V	1799	ENSP00000363868:I1799V	ENSP00000363868:I1799V	I	-	1	0	ABCA1	106596600	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.184000	0.58323	2.206000	0.71126	0.528000	0.53228	ATC		0.418	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	39	0	0	0	1	0	4	39				
RITA1	84934	broad.mit.edu	37	12	113629196	113629196	+	Silent	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:113629196G>A	ENST00000548278.1	+	4	1076	c.384G>A	c.(382-384)cgG>cgA	p.R128R	C12orf52_ENST00000549621.1_Silent_p.R128R|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Silent_p.R152R	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		128	Interaction with RBPJ/RBPSUH.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GGGCCCCGCGGATGGCGAAGG	0.642																																						ENST00000548278.1																			0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(382-384)cgG>cgA		chromosome 12 open reading frame 52							28.0	30.0	29.0					12																	113629196		2203	4300	6503	SO:0001819	synonymous_variant	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629196G>A																												ENST00000548278.1:c.384G>A	12.37:g.113629196G>A						C12orf52_ENST00000552495.1_Silent_p.R152R|C12orf52_ENST00000549621.1_Silent_p.R128R|RP11-545P7.4_ENST00000552525.1_RNA	p.R128R	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN			4	1076	+			128			Interaction with RBPJ/RBPSUH.		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Silent	SNP	ENST00000548278.1	37	c.384G>A	CCDS9166.1																																																																																				0.642	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			3	38	0	0	0	1	0	3	38				
ABCA12	26154	broad.mit.edu	37	2	215914477	215914477	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:215914477G>C	ENST00000272895.7	-	6	785	c.566C>G	c.(565-567)tCa>tGa	p.S189*		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	189					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AATGTATCCTGAATAGCTGTC	0.338																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(565-567)tCa>tGa		ATP-binding cassette, sub-family A (ABC1), member 12							81.0	80.0	81.0					2																	215914477		2203	4300	6503	SO:0001587	stop_gained	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215914477G>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.566C>G	2.37:g.215914477G>C	ENSP00000272895:p.Ser189*						p.S189*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	6	785	-		Renal(323;0.127)	189					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	ENST00000272895.7	37	c.566C>G	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152630	0.78001	.	.	ENSG00000144452	ENST00000272895	.	.	.	6.05	5.16	0.70880	.	0.090866	0.48767	D	0.000163	.	.	.	.	.	.	0.41043	D	0.985241	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.8308	0.63380	0.0:0.0:0.8467:0.1533	.	.	.	.	X	189	.	ENSP00000272895:S189X	S	-	2	0	ABCA12	215622722	0.977000	0.34250	0.074000	0.20217	0.005000	0.04900	5.305000	0.65750	1.531000	0.49152	0.655000	0.94253	TCA		0.338	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		3	31	0	0	0	1	0	3	31				
ADCY2	108	broad.mit.edu	37	5	7789838	7789838	+	Silent	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:7789838G>C	ENST00000338316.4	+	20	2642	c.2553G>C	c.(2551-2553)ctG>ctC	p.L851L	ADCY2_ENST00000537121.1_Silent_p.L671L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	851					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGGAGAACCTGAACCGCGTGC	0.527																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(2551-2553)ctG>ctC		adenylate cyclase 2 (brain)							86.0	88.0	88.0					5																	7789838		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7789838G>C	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2553G>C	5.37:g.7789838G>C						ADCY2_ENST00000537121.1_Silent_p.L671L	p.L851L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			20	2642	+			851					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2553G>C	CCDS3872.2																																																																																				0.527	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		4	54	0	0	0	1	0	4	54				
CLUAP1	23059	broad.mit.edu	37	16	3586202	3586202	+	Silent	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr16:3586202C>G	ENST00000576634.1	+	12	1317	c.1173C>G	c.(1171-1173)ctC>ctG	p.L391L	CLUAP1_ENST00000341633.5_Silent_p.L410L|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|CLUAP1_ENST00000572600.1_Silent_p.L225L|CLUAP1_ENST00000445795.2_Silent_p.L169L|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000301749.7_RNA|CLUAP1_ENST00000417763.2_Silent_p.L225L|CLUAP1_ENST00000571025.1_3'UTR	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	391					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GCATTTCTCTCTCACCAACCA	0.478																																						ENST00000576634.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						c.(1171-1173)ctC>ctG		clusterin associated protein 1							116.0	104.0	108.0					16																	3586202		2197	4300	6497	SO:0001819	synonymous_variant	23059					nucleus	protein binding	g.chr16:3586202C>G	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.1173C>G	16.37:g.3586202C>G						CLUAP1_ENST00000572600.1_Silent_p.L225L|CLUAP1_ENST00000341633.5_Silent_p.L410L|CLUAP1_ENST00000445795.2_Silent_p.L169L|CLUAP1_ENST00000571025.1_3'UTR|CLUAP1_ENST00000417763.2_Silent_p.L225L	p.L391L	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN			12	1317	+			391					O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	ENST00000576634.1	37	c.1173C>G	CCDS32381.1																																																																																				0.478	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		5	54	0	0	0	1	0	5	54				
MYH7	4625	broad.mit.edu	37	14	23898464	23898464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr14:23898464C>T	ENST00000355349.3	-	13	1393	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	411	Myosin motor.		V -> I (in CMH1). {ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:12975413, ECO:0000269|PubMed:15858117}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCCTTGGTGACGTACTCATTG	0.567																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	GRCh37	CM032602	MYH7	M		c.(1231-1233)Gtc>Atc		myosin, heavy chain 7, cardiac muscle, beta							158.0	134.0	142.0					14																	23898464		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898464C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1231G>A	14.37:g.23898464C>T	ENSP00000347507:p.Val411Ile						p.V411I	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	13	1393	-	all_cancers(95;2.54e-05)		411		V -> I (in CMH1).	Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1231G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.025763	0.75390	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88896	-2.44	4.04	4.04	0.47022	Myosin head, motor domain (2);	.	.	.	.	D	0.92218	0.7532	L	0.48362	1.52	0.80722	D	1	D	0.57571	0.98	D	0.77004	0.989	D	0.93171	0.6566	9	0.66056	D	0.02	.	16.3734	0.83374	0.0:1.0:0.0:0.0	.	411	P12883	MYH7_HUMAN	I	411	ENSP00000347507:V411I	ENSP00000347507:V411I	V	-	1	0	MYH7	22968304	1.000000	0.71417	0.937000	0.37676	0.551000	0.35334	5.787000	0.69013	2.077000	0.62373	0.455000	0.32223	GTC		0.567	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		8	122	0	0	0	1	0	8	122				
VCAN	1462	broad.mit.edu	37	5	82815483	82815483	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:82815483C>G	ENST00000265077.3	+	7	1923	c.1358C>G	c.(1357-1359)tCa>tGa	p.S453*	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Nonsense_Mutation_p.S405*|VCAN_ENST00000342785.4_Nonsense_Mutation_p.S453*|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	453	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTAGACATATCAGAAATTAAG	0.463																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(1357-1359)tCa>tGa		versican							78.0	80.0	79.0					5																	82815483		2203	4300	6503	SO:0001587	stop_gained	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815483C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1358C>G	5.37:g.82815483C>G	ENSP00000265077:p.Ser453*					VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Nonsense_Mutation_p.S405*|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Nonsense_Mutation_p.S453*	p.S453*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	1923	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	453			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	ENST00000265077.3	37	c.1358C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	39	7.348586	0.98228	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	.	.	.	5.92	5.92	0.95590	.	0.320227	0.27464	N	0.019254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	12.7682	0.57403	0.0:0.9251:0.0:0.0749	.	.	.	.	X	453;453;405	.	ENSP00000265077:S453X	S	+	2	0	VCAN	82851239	1.000000	0.71417	0.963000	0.40424	0.364000	0.29643	3.006000	0.49529	2.809000	0.96659	0.655000	0.94253	TCA		0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		9	79	0	0	0	1	0	9	79				
ADAM18	8749	broad.mit.edu	37	8	39442835	39442835	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:39442835G>T	ENST00000265707.5	+	2	141	c.96G>T	c.(94-96)aaG>aaT	p.K32N	ADAM18_ENST00000520772.1_Missense_Mutation_p.K32N|ADAM18_ENST00000379866.1_Missense_Mutation_p.K32N|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	32					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTCCACGGAAGATTAAGTCAA	0.328																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(94-96)aaG>aaT		ADAM metallopeptidase domain 18							114.0	110.0	111.0					8																	39442835		2203	4300	6503	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39442835G>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.96G>T	8.37:g.39442835G>T	ENSP00000265707:p.Lys32Asn					ADAM18_ENST00000379866.1_Missense_Mutation_p.K32N|ADAM18_ENST00000520772.1_Missense_Mutation_p.K32N|ADAM18_ENST00000541111.1_5'UTR	p.K32N	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		2	141	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	32					B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.96G>T	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	8.101	0.776621	0.16120	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000520772	T;T;T	0.07114	3.22;3.22;3.22	3.73	1.92	0.25849	Peptidase M12B, propeptide (1);	0.000000	0.38778	N	0.001565	T	0.29882	0.0747	M	0.91038	3.17	0.09310	N	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.996;0.998	T	0.07347	-1.0777	10	0.66056	D	0.02	.	6.0832	0.19952	0.2421:0.0:0.7579:0.0	.	32;32;32	Q9Y3Q7-2;Q9Y3Q7;Q6IRW9	.;ADA18_HUMAN;.	N	32	ENSP00000265707:K32N;ENSP00000369195:K32N;ENSP00000429908:K32N	ENSP00000265707:K32N	K	+	3	2	ADAM18	39561992	0.828000	0.29307	0.024000	0.17045	0.003000	0.03518	0.414000	0.21164	0.377000	0.24735	-0.474000	0.04947	AAG		0.328	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		5	45	1	0	1.23904e-05	1	1.36547e-05	5	45				
USP53	54532	broad.mit.edu	37	4	120190941	120190941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr4:120190941C>T	ENST00000274030.6	+	15	2563	c.1384C>T	c.(1384-1386)Caa>Taa	p.Q462*	USP53_ENST00000450251.1_Nonsense_Mutation_p.Q462*	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACTTTCTTCACAAAGGAAAGA	0.318																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(1384-1386)Caa>Taa		ubiquitin specific peptidase 53							100.0	101.0	101.0					4																	120190941		1802	4060	5862	SO:0001587	stop_gained	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120190941C>T	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1384C>T	4.37:g.120190941C>T	ENSP00000274030:p.Gln462*					USP53_ENST00000274030.6_Nonsense_Mutation_p.Q462*	p.Q462*			Q70EK8	UBP53_HUMAN			11	1928	+			462						Nonsense_Mutation	SNP	ENST00000274030.6	37	c.1384C>T	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	C	42	9.811459	0.99270	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	.	.	.	5.47	5.47	0.80525	.	0.245363	0.34268	N	0.004120	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-16.3859	8.4477	0.32852	0.0:0.8676:0.0:0.1324	.	.	.	.	X	462	.	ENSP00000274030:Q462X	Q	+	1	0	USP53	120410389	0.985000	0.35326	0.921000	0.36526	0.996000	0.88848	2.873000	0.48475	2.560000	0.86352	0.561000	0.74099	CAA		0.318	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		10	70	0	0	0	1	0	10	70				
SMURF1	57154	broad.mit.edu	37	7	98636133	98636133	+	Silent	SNP	C	C	A	rs376582518		TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr7:98636133C>A	ENST00000361125.1	-	15	1963	c.1644G>T	c.(1642-1644)acG>acT	p.T548T	AC004893.11_ENST00000360902.1_RNA|SMURF1_ENST00000361368.2_Silent_p.T522T|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	548	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CCAGTACAGGCGTGATGTCGT	0.522																																						ENST00000361125.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.(1642-1644)acG>acT		SMAD specific E3 ubiquitin protein ligase 1							128.0	101.0	110.0					7																	98636133		2203	4300	6503	SO:0001819	synonymous_variant	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98636133C>A	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1644G>T	7.37:g.98636133C>A						SMURF1_ENST00000361368.2_Silent_p.T522T|AC004893.11_ENST00000468960.2_RNA	p.T548T	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		15	1963	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		548			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	ENST00000361125.1	37	c.1644G>T	CCDS34690.1																																																																																				0.522	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		3	39	1	0	0.004672	1	0.00485169	3	39				
RANBP2	5903	broad.mit.edu	37	2	109383938	109383938	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:109383938C>G	ENST00000283195.6	+	20	7069	c.6943C>G	c.(6943-6945)Cct>Gct	p.P2315A		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2315	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACCTGTTGTTCCTTTACCTGA	0.398																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(6943-6945)Cct>Gct		RAN binding protein 2							34.0	37.0	36.0					2																	109383938		2035	4183	6218	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383938C>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6943C>G	2.37:g.109383938C>G	ENSP00000283195:p.Pro2315Ala						p.P2315A	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	7069	+			2315			RanBD1 3.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.6943C>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354025	0.61293	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.31247	1.5	5.8	5.8	0.92144	Pleckstrin homology-type (1);Ran binding protein 1 (2);	.	.	.	.	T	0.36608	0.0973	M	0.66939	2.045	0.46298	D	0.998976	P	0.34780	0.468	B	0.30029	0.11	T	0.28138	-1.0053	9	0.72032	D	0.01	-24.7281	20.0591	0.97667	0.0:1.0:0.0:0.0	.	2315	P49792	RBP2_HUMAN	A	1339;2315	ENSP00000283195:P2315A	ENSP00000283195:P2315A	P	+	1	0	RANBP2	108750370	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	6.084000	0.71335	2.753000	0.94483	0.455000	0.32223	CCT		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	192	0	0	0	1	0	6	192				
AWAT1	158833	broad.mit.edu	37	X	69456945	69456945	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:69456945C>G	ENST00000374521.3	+	4	348	c.307C>G	c.(307-309)Cac>Gac	p.H103D	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	103					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CATGGGGGTTCACCCCCATGG	0.552																																						ENST00000374521.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						c.(307-309)Cac>Gac		acyl-CoA wax alcohol acyltransferase 1							76.0	48.0	57.0					X																	69456945		2203	4300	6503	SO:0001583	missense	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69456945C>G	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.307C>G	X.37:g.69456945C>G	ENSP00000363645:p.His103Asp					AWAT1_ENST00000480702.1_3'UTR	p.H103D	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN			4	348	+			103					Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	c.307C>G	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460421	0.84317	.	.	ENSG00000204195	ENST00000374521	T	0.16073	2.37	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.51092	0.1654	H	0.95260	3.645	0.58432	D	0.999999	D	0.58970	0.984	P	0.61070	0.883	T	0.68205	-0.5470	10	0.87932	D	0	-11.2768	15.2202	0.73306	0.0:1.0:0.0:0.0	.	103	Q58HT5	AWAT1_HUMAN	D	103	ENSP00000363645:H103D	ENSP00000363645:H103D	H	+	1	0	AWAT1	69373670	1.000000	0.71417	0.987000	0.45799	0.967000	0.64934	7.132000	0.77251	2.146000	0.66826	0.449000	0.29647	CAC		0.552	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		3	10	0	0	0	1	0	3	10				
OR2M7	391196	broad.mit.edu	37	1	248487611	248487611	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:248487611G>C	ENST00000317965.2	-	1	288	c.260C>G	c.(259-261)tCt>tGt	p.S87C		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTGCTGCCAGACAAGTAGTT	0.483																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(259-261)tCt>tGt		olfactory receptor, family 2, subfamily M, member 7							239.0	238.0	238.0					1																	248487611		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487611G>C	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.260C>G	1.37:g.248487611G>C	ENSP00000324557:p.Ser87Cys						p.S87C	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	288	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		87					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.260C>G	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	G	4.229	0.041405	0.08196	.	.	ENSG00000177186	ENST00000317965	T	0.00414	7.52	1.54	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32134	U	0.006531	T	0.00906	0.0030	M	0.84585	2.705	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45862	-0.9232	10	0.39692	T	0.17	.	4.4222	0.11486	0.1592:0.2367:0.6041:0.0	.	87	Q8NG81	OR2M7_HUMAN	C	87	ENSP00000324557:S87C	ENSP00000324557:S87C	S	-	2	0	OR2M7	246554234	0.000000	0.05858	0.229000	0.23960	0.122000	0.20287	-0.576000	0.05854	0.845000	0.35118	0.184000	0.17185	TCT		0.483	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		10	334	0	0	0	1	0	10	334				
DST	667	broad.mit.edu	37	6	56418442	56418442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:56418442G>A	ENST00000361203.3	-	57	14522	c.14515C>T	c.(14515-14517)Cag>Tag	p.Q4839*	DST_ENST00000244364.6_Nonsense_Mutation_p.Q2427*|DST_ENST00000370754.5_Nonsense_Mutation_p.Q5019*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q2753*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q4841*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q4515*|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.Q2753*			Q03001	DYST_HUMAN	dystonin	4839					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAAGGTGCTGGACATGATTC	0.323																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(15055-15057)Cag>Tag		dystonin							45.0	42.0	43.0					6																	56418442		1810	4085	5895	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56418442G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14515C>T	6.37:g.56418442G>A	ENSP00000354508:p.Gln4839*					DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Nonsense_Mutation_p.Q4839*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q2753*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q2753*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q4841*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q4515*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q2427*	p.Q5019*			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	15054	-	Lung NSC(77;0.103)		4839					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.15055C>T		.	.	.	.	.	.	.	.	.	.	G	54	22.535265	0.99949	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.61	4.73	0.59995	.	0.129661	0.34986	N	0.003533	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	15.5566	0.76200	0.0:0.3867:0.6133:0.0	.	.	.	.	X	2427;5019;4841;2753;4515;2753;4839	.	ENSP00000244364:Q2427X	Q	-	1	0	DST	56526401	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	1.713000	0.37951	1.493000	0.48517	0.655000	0.94253	CAG		0.323	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	55	0	0	0	1	0	5	55				
GREM1	26585	broad.mit.edu	37	15	33023039	33023039	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr15:33023039C>G	ENST00000300177.4	+	2	337	c.148C>G	c.(148-150)Ccc>Gcc	p.P50A	GREM1_ENST00000560830.1_Intron|GREM1_ENST00000560677.1_Intron|GREM1_ENST00000322805.4_Intron	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	50					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GACTCAGTCGCCCCAGCAGCC	0.672																																						ENST00000300177.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(148-150)Ccc>Gcc		gremlin 1, DAN family BMP antagonist							22.0	28.0	26.0					15																	33023039		2196	4292	6488	SO:0001583	missense	26585				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	g.chr15:33023039C>G		CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"""cysteine knot superfamily 1, BMP antagonist 1"", ""gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 1"", ""colorectal adenoma and carcinoma 1"""	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.148C>G	15.37:g.33023039C>G	ENSP00000300177:p.Pro50Ala					GREM1_ENST00000560830.1_Intron|GREM1_ENST00000560677.1_Intron|GREM1_ENST00000322805.4_Intron	p.P50A	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)	2	337	+		all_lung(180;1.49e-09)	50					Q52LV3|Q8N914|Q8N936	Missense_Mutation	SNP	ENST00000300177.4	37	c.148C>G	CCDS10029.1	.	.	.	.	.	.	.	.	.	.	C	5.115	0.206919	0.09704	.	.	ENSG00000166923	ENST00000300177	T	0.30714	1.52	5.56	4.62	0.57501	.	0.259165	0.40222	N	0.001148	T	0.17280	0.0415	N	0.14661	0.345	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.05273	-1.0895	10	0.07175	T	0.84	-24.5056	14.6436	0.68742	0.0:0.8549:0.1451:0.0	.	50	O60565	GREM1_HUMAN	A	50	ENSP00000300177:P50A	ENSP00000300177:P50A	P	+	1	0	GREM1	30810331	0.865000	0.29922	0.844000	0.33320	0.994000	0.84299	3.097000	0.50251	1.323000	0.45263	0.655000	0.94253	CCC		0.672	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2	NM_013372		9	41	0	0	0	1	0	9	41				
LRRCC1	85444	broad.mit.edu	37	8	86050673	86050673	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:86050673C>G	ENST00000360375.3	+	17	2952	c.2803C>G	c.(2803-2805)Ctt>Gtt	p.L935V	LRRCC1_ENST00000414626.2_Missense_Mutation_p.L915V	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	935					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GGAAAAGAAACTTAAAGCGGA	0.338																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(2743-2745)Ctt>Gtt		leucine rich repeat and coiled-coil centrosomal protein 1							65.0	66.0	66.0					8																	86050673		1828	4070	5898	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86050673C>G	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2803C>G	8.37:g.86050673C>G	ENSP00000353538:p.Leu935Val					LRRCC1_ENST00000360375.3_Missense_Mutation_p.L935V	p.L915V			Q9C099	LRCC1_HUMAN			16	3632	+			935					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2743C>G	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323703	0.81580	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.51071	0.72;0.73	5.28	5.28	0.74379	.	0.000000	0.31747	N	0.007140	T	0.68622	0.3021	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.994	T	0.69982	-0.4997	10	0.59425	D	0.04	-8.9718	18.8543	0.92246	0.0:1.0:0.0:0.0	.	915;842;935	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	V	935;915	ENSP00000353538:L935V;ENSP00000394695:L915V	ENSP00000353538:L935V	L	+	1	0	LRRCC1	86237925	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	3.965000	0.56788	2.622000	0.88805	0.650000	0.86243	CTT		0.338	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		5	65	0	0	0	1	0	5	65				
ZFPM2	23414	broad.mit.edu	37	8	106815541	106815541	+	Silent	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:106815541G>A	ENST00000407775.2	+	8	3481	c.3231G>A	c.(3229-3231)tcG>tcA	p.S1077S	ZFPM2_ENST00000517361.1_Silent_p.S945S|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.S945S|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.S808S|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1077					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1077S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AATCTCCCTCGTGGATCTCTG	0.478																																						ENST00000407775.2																			1	Substitution - coding silent(1)	p.S1077S(1)	lung(1)	NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(3229-3231)tcG>tcA		zinc finger protein, FOG family member 2							56.0	56.0	56.0					8																	106815541		1929	4130	6059	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815541G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3231G>A	8.37:g.106815541G>A						RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.S808S|ZFPM2_ENST00000517361.1_Silent_p.S945S|ZFPM2_ENST00000520492.1_Silent_p.S945S|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	p.S1077S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3481	+			1077					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.3231G>A	CCDS47908.1																																																																																				0.478	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			4	43	0	0	0	1	0	4	43				
CSMD3	114788	broad.mit.edu	37	8	113331129	113331129	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:113331129C>T	ENST00000297405.5	-	47	7541	c.7297G>A	c.(7297-7299)Gca>Aca	p.A2433T	CSMD3_ENST00000352409.3_Missense_Mutation_p.A2363T|CSMD3_ENST00000343508.3_Missense_Mutation_p.A2393T|CSMD3_ENST00000455883.2_Missense_Mutation_p.A2329T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2433	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCAGAATTGCATTACCAACT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7297-7299)Gca>Aca		CUB and Sushi multiple domains 3							107.0	97.0	101.0					8																	113331129		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113331129C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7297G>A	8.37:g.113331129C>T	ENSP00000297405:p.Ala2433Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.A2329T|CSMD3_ENST00000352409.3_Missense_Mutation_p.A2363T|CSMD3_ENST00000343508.3_Missense_Mutation_p.A2393T	p.A2433T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			47	7541	-			2433			Sushi 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7297G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842313	0.51057	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.82	4.95	0.65309	Complement control module (2);Sushi/SCR/CCP (3);	0.072477	0.52532	D	0.000061	T	0.50154	0.1599	N	0.25031	0.7	0.37273	D	0.907479	B;B;B	0.25312	0.03;0.123;0.051	B;B;B	0.31686	0.044;0.134;0.131	T	0.50767	-0.8789	10	0.20519	T	0.43	.	14.8876	0.70582	0.0:0.9315:0.0:0.0685	.	2329;2433;2393	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	2393;2433;1703;2329;2363	ENSP00000345799:A2393T;ENSP00000297405:A2433T;ENSP00000341558:A1703T;ENSP00000412263:A2329T;ENSP00000343124:A2363T	ENSP00000297405:A2433T	A	-	1	0	CSMD3	113400305	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	5.958000	0.70330	1.489000	0.48450	-0.245000	0.11935	GCA		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	57	0	0	0	1	0	8	57				
DNAJC11	55735	broad.mit.edu	37	1	6711664	6711664	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:6711664T>A	ENST00000377577.5	-	7	754		c.e7-2		DNAJC11_ENST00000349363.6_Splice_Site|DNAJC11_ENST00000294401.7_Splice_Site|DNAJC11_ENST00000542246.1_Splice_Site|DNAJC11_ENST00000377573.5_Splice_Site	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11							extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		AAATTCCAACTGTTTGAAAAG	0.433																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.e7-2		DnaJ (Hsp40) homolog, subfamily C, member 11							76.0	78.0	78.0					1																	6711664		2203	4300	6503	SO:0001630	splice_region_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6711664T>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.631-2A>T	1.37:g.6711664T>A						DNAJC11_ENST00000294401.7_Splice_Site|DNAJC11_ENST00000377573.5_Splice_Site|DNAJC11_ENST00000349363.6_Splice_Site|DNAJC11_ENST00000542246.1_Splice_Site		NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	7	754	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)						Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Splice_Site	SNP	ENST00000377577.5	37		CCDS87.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615072	0.87359	.	.	ENSG00000007923	ENST00000377577;ENST00000451196;ENST00000349363;ENST00000294401;ENST00000542246;ENST00000377573	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9416	0.70997	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAJC11	6634251	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.522000	0.73783	2.117000	0.64856	0.533000	0.62120	.		0.433	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	Intron	4	19	0	0	0	1	0	4	19				
PCDHA5	56143	broad.mit.edu	37	5	140202600	140202600	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:140202600C>T	ENST00000529859.1	+	1	1240	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R414C|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R414C|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	414	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGACCGCGAGAGCGT	0.642																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1240-1242)Cgc>Tgc									145.0	139.0	141.0					5																	140202600		2203	4300	6503	SO:0001583	missense	56143							g.chr5:140202600C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1240C>T	5.37:g.140202600C>T	ENSP00000436557:p.Arg414Cys					PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R414C|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R414C|PCDHA1_ENST00000394633.3_Intron	p.R414C	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1240	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1240C>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635852	0.67130	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.59772	0.24;0.24;0.24	4.02	2.13	0.27403	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79684	0.4488	M	0.92970	3.365	0.34040	D	0.654893	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.85783	0.1362	9	0.87932	D	0	.	12.2613	0.54652	0.3099:0.6901:0.0:0.0	.	414;414;414	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	C	414	ENSP00000433416:R414C;ENSP00000436557:R414C;ENSP00000367366:R414C	ENSP00000367366:R414C	R	+	1	0	PCDHA5	140182784	0.160000	0.22878	0.965000	0.40720	0.967000	0.64934	0.654000	0.24918	0.232000	0.21100	0.563000	0.77884	CGC		0.642	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		7	203	0	0	0	1	0	7	203				
LRRC24	441381	broad.mit.edu	37	8	145749502	145749502	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:145749502C>T	ENST00000529415.2	-	4	716	c.599G>A	c.(598-600)cGc>cAc	p.R200H	LRRC24_ENST00000533758.1_Missense_Mutation_p.R197H|LRRC14_ENST00000292524.1_3'UTR|LRRC14_ENST00000528528.1_Intron			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	200						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACCTGTGAGGCGCAGGACTTG	0.642																																						ENST00000529415.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(1)	5						c.(598-600)cGc>cAc		leucine rich repeat containing 24							102.0	110.0	107.0					8																	145749502		2203	4297	6500	SO:0001583	missense	441381					integral to membrane		g.chr8:145749502C>T	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.599G>A	8.37:g.145749502C>T	ENSP00000434849:p.Arg200His					LRRC24_ENST00000533758.1_Missense_Mutation_p.R197H|LRRC14_ENST00000292524.1_3'UTR|LRRC14_ENST00000528528.1_Intron	p.R200H			Q50LG9	LRC24_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	716	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		200						Missense_Mutation	SNP	ENST00000529415.2	37	c.599G>A	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975046	0.92919	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.57595	0.39;0.39	4.55	4.55	0.56014	.	0.062516	0.64402	D	0.000006	T	0.54919	0.1888	L	0.28556	0.865	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.75484	0.949;0.986	T	0.45833	-0.9234	10	0.07813	T	0.8	.	12.6709	0.56866	0.0:1.0:0.0:0.0	.	197;200	G3V1D8;Q50LG9	.;LRC24_HUMAN	H	200;197	ENSP00000434849:R200H;ENSP00000435653:R197H	ENSP00000434849:R200H	R	-	2	0	LRRC24	145720310	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	3.893000	0.56243	2.350000	0.79820	0.561000	0.74099	CGC		0.642	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		16	160	0	0	0	1	0	16	160				
ITPR2	3709	broad.mit.edu	37	12	26809443	26809443	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:26809443C>A	ENST00000381340.3	-	19	2647	c.2231G>T	c.(2230-2232)cGc>cTc	p.R744L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	744					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CAGATACTGGCGATCCAAGCA	0.453																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(2230-2232)cGc>cTc		inositol 1,4,5-trisphosphate receptor, type 2							68.0	70.0	69.0					12																	26809443		2001	4179	6180	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26809443C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2231G>T	12.37:g.26809443C>A	ENSP00000370744:p.Arg744Leu						p.R744L	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			19	2647	-	Colorectal(261;0.0847)		744					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2231G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109920	0.94292	.	.	ENSG00000123104	ENST00000381340	D	0.95622	-3.76	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.97949	0.9325	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98818	1.0746	10	0.87932	D	0	.	18.0329	0.89290	0.0:1.0:0.0:0.0	.	744	Q14571	ITPR2_HUMAN	L	744	ENSP00000370744:R744L	ENSP00000370744:R744L	R	-	2	0	ITPR2	26700710	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.596000	0.82721	2.546000	0.85860	0.655000	0.94253	CGC		0.453	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		5	45	1	0	0.014758	1	0.0150364	5	45				
GLS2	27165	broad.mit.edu	37	12	56868436	56868436	+	Silent	SNP	G	G	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:56868436G>T	ENST00000311966.4	-	12	1394	c.1116C>A	c.(1114-1116)atC>atA	p.I372I	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	372					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	TGATGGGGCAGATCCCACCGT	0.537																																						ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1114-1116)atC>atA		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						133.0	121.0	125.0					12																	56868436		2203	4300	6503	SO:0001819	synonymous_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56868436G>T		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1116C>A	12.37:g.56868436G>T						GLS2_ENST00000476991.1_5'UTR	p.I372I	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN			12	1394	-			372					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	ENST00000311966.4	37	c.1116C>A	CCDS8921.1																																																																																				0.537	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		5	128	1	0	0.0215528	1	0.0217542	5	128				
DNMT3A	1788	broad.mit.edu	37	2	25498412	25498412	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:25498412C>A	ENST00000264709.3	-	5	786	c.449G>T	c.(448-450)gGc>gTc	p.G150V	DNMT3A_ENST00000321117.5_Splice_Site_p.G150V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	150					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTTCTTTGCCTGTGGAGAG	0.562			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.e5-1		DNA (cytosine-5-)-methyltransferase 3 alpha							187.0	201.0	196.0					2																	25498412		2203	4300	6503	SO:0001630	splice_region_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25498412C>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.449-1G>T	2.37:g.25498412C>A						DNMT3A_ENST00000321117.5_Splice_Site_p.G150_splice	p.G150_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			5	786	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		150					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Splice_Site	SNP	ENST00000264709.3	37	c.448_splice	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.257039	0.39896	.	.	ENSG00000119772	ENST00000321117;ENST00000264709	D;D	0.92911	-3.13;-3.13	4.63	4.63	0.57726	.	0.414013	0.22387	N	0.060726	D	0.92296	0.7556	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.92367	0.5902	10	0.51188	T	0.08	.	13.0066	0.58707	0.0:1.0:0.0:0.0	.	150	Q9Y6K1	DNM3A_HUMAN	V	150	ENSP00000324375:G150V;ENSP00000264709:G150V	ENSP00000264709:G150V	G	-	2	0	DNMT3A	25351916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.652000	0.46682	2.116000	0.64780	0.561000	0.74099	GGC		0.562	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	Missense_Mutation	19	143	1	0	1.33834e-09	1	1.50563e-09	19	143				
DSC1	1823	broad.mit.edu	37	18	28737387	28737387	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr18:28737387G>C	ENST00000257198.5	-	3	559	c.298C>G	c.(298-300)Cag>Gag	p.Q100E	DSC1_ENST00000257197.3_Missense_Mutation_p.Q100E|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	100					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCCCGTCTCTGACCATCTGAA	0.408																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(298-300)Cag>Gag		desmocollin 1							110.0	89.0	96.0					18																	28737387		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28737387G>C	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.298C>G	18.37:g.28737387G>C	ENSP00000257198:p.Gln100Glu					RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.Q100E	p.Q100E	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		3	559	-			100					Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.298C>G	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.920987	0.00498	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.60299	0.2;0.2	5.67	3.9	0.45041	Cadherin prodomain-like (1);Cadherin-like (1);	0.272597	0.26126	N	0.026181	T	0.45074	0.1324	L	0.43646	1.37	0.09310	N	1	P;B	0.38280	0.625;0.022	B;B	0.38156	0.266;0.018	T	0.33523	-0.9865	10	0.06494	T	0.89	.	11.5525	0.50729	0.0696:0.3259:0.6045:0.0	.	100;100	Q08554;Q9HB00	DSC1_HUMAN;.	E	100	ENSP00000257197:Q100E;ENSP00000257198:Q100E	ENSP00000257197:Q100E	Q	-	1	0	DSC1	26991385	0.991000	0.36638	0.014000	0.15608	0.001000	0.01503	2.754000	0.47532	0.440000	0.26502	-0.795000	0.03280	CAG		0.408	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		3	35	0	0	0	1	0	3	35				
GATA3	2625	broad.mit.edu	37	10	8115926	8115926	+	Silent	SNP	G	G	C	rs182422967	byFrequency	TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr10:8115926G>C	ENST00000346208.3	+	6	1727	c.1272G>C	c.(1270-1272)ccG>ccC	p.P424P	GATA3_ENST00000379328.3_Silent_p.P425P|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	424					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.S427fs*21(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGATGCACCCGCCATCCAGCC	0.652			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		1	Insertion - Frameshift(1)	p.S427fs*21(1)	breast(1)	NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(1273-1275)ccG>ccC		GATA binding protein 3							92.0	78.0	83.0					10																	8115926		2203	4300	6503	SO:0001819	synonymous_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8115926G>C	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1272G>C	10.37:g.8115926G>C						GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.P424P	p.P425P	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			6	1843	+			424	P -> A (in Ref. 4; AAA35870).				Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	c.1275G>C	CCDS7083.1																																																																																				0.652	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		11	67	0	0	0	1	0	11	67				
UHMK1	127933	broad.mit.edu	37	1	162469842	162469842	+	Silent	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:162469842C>G	ENST00000489294.1	+	2	524	c.366C>G	c.(364-366)ctC>ctG	p.L122L	UHMK1_ENST00000545294.1_Silent_p.L48L|UHMK1_ENST00000538489.1_Silent_p.L122L|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGGAATTGCTCTTATATTCCA	0.453																																						ENST00000489294.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11						c.(364-366)ctC>ctG		U2AF homology motif (UHM) kinase 1							211.0	186.0	195.0					1																	162469842		2203	4300	6503	SO:0001819	synonymous_variant	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162469842C>G	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.366C>G	1.37:g.162469842C>G						UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Silent_p.L48L|UHMK1_ENST00000538489.1_Silent_p.L122L	p.L122L	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	524	+	all_hematologic(112;0.115)		122			Protein kinase.		A8K8K4|G3V1M1|Q96C22	Silent	SNP	ENST00000489294.1	37	c.366C>G	CCDS1239.1																																																																																				0.453	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		5	94	0	0	0	1	0	5	94				
SERINC5	256987	broad.mit.edu	37	5	79442049	79442049	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:79442049C>G	ENST00000507668.2	-	11	1252	c.1102G>C	c.(1102-1104)Gag>Cag	p.E368Q	CTC-458I2.2_ENST00000511484.1_RNA|SERINC5_ENST00000512721.1_Missense_Mutation_p.E368Q|SERINC5_ENST00000512972.2_Missense_Mutation_p.E368Q|SERINC5_ENST00000509193.1_Missense_Mutation_p.E366Q	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	368					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGCTGCTGCTCTTCAGTGTCT	0.512																																						ENST00000507668.2																			0				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8						c.(1102-1104)Gag>Cag		serine incorporator 5							205.0	199.0	201.0					5																	79442049		1956	4148	6104	SO:0001583	missense	256987				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		g.chr5:79442049C>G	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.1102G>C	5.37:g.79442049C>G	ENSP00000426237:p.Glu368Gln					SERINC5_ENST00000512721.1_Missense_Mutation_p.E368Q|SERINC5_ENST00000512972.2_Missense_Mutation_p.E368Q|SERINC5_ENST00000509193.1_Missense_Mutation_p.E366Q	p.E368Q	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)	11	1252	-		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)	368					B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	ENST00000507668.2	37	c.1102G>C	CCDS54873.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134794	0.77662	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.55	5.55	0.83447	.	0.347275	0.36338	N	0.002658	T	0.31702	0.0805	L	0.54863	1.705	0.58432	D	0.999996	D;B;D;D	0.63880	0.987;0.203;0.993;0.987	P;B;D;P	0.65010	0.868;0.097;0.931;0.868	T	0.00448	-1.1733	10	0.29301	T	0.29	.	18.2682	0.90059	0.0:1.0:0.0:0.0	.	368;368;366;368	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	Q	368;367;366;368;368	ENSP00000426237:E368Q;ENSP00000426134:E366Q;ENSP00000421665:E368Q;ENSP00000420863:E368Q	ENSP00000327542:E367Q	E	-	1	0	SERINC5	79477805	1.000000	0.71417	0.982000	0.44146	0.240000	0.25518	6.283000	0.72646	2.605000	0.88082	0.655000	0.94253	GAG		0.512	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276		9	173	0	0	0	1	0	9	173				
ACBD3	64746	broad.mit.edu	37	1	226334469	226334469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:226334469C>G	ENST00000366812.5	-	8	1483	c.1429G>C	c.(1429-1431)Gat>Cat	p.D477H	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	477	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ACAATCTCATCCAGCAAAGGC	0.458																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(1429-1431)Gat>Cat		acyl-CoA binding domain containing 3							195.0	157.0	170.0					1																	226334469		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226334469C>G	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1429G>C	1.37:g.226334469C>G	ENSP00000355777:p.Asp477His						p.D477H	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	8	1483	-	Breast(184;0.158)		477			GOLD.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.1429G>C	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925575	0.92319	.	.	ENSG00000182827	ENST00000366812	T	0.41400	1.0	5.74	5.74	0.90152	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	M	0.80847	2.515	0.80722	D	1	D	0.69078	0.997	D	0.74674	0.984	T	0.70978	-0.4725	10	0.66056	D	0.02	-28.5498	19.9144	0.97043	0.0:1.0:0.0:0.0	.	477	Q9H3P7	GCP60_HUMAN	H	477	ENSP00000355777:D477H	ENSP00000355777:D477H	D	-	1	0	ACBD3	224401092	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.426000	0.80270	2.716000	0.92895	0.491000	0.48974	GAT		0.458	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		5	108	0	0	0	1	0	5	108				
BTK	695	broad.mit.edu	37	X	100617201	100617201	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:100617201T>C	ENST00000308731.7	-	7	711	c.548A>G	c.(547-549)aAg>aGg	p.K183R	BTK_ENST00000372880.1_Missense_Mutation_p.K183R	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	183					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTTTTTGTCTTCCGGTGAGA	0.493									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(547-549)aAg>aGg		Bruton agammaglobulinemia tyrosine kinase							124.0	103.0	110.0					X																	100617201		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100617201T>C	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.548A>G	X.37:g.100617201T>C	ENSP00000308176:p.Lys183Arg					BTK_ENST00000372880.1_Missense_Mutation_p.K183R	p.K183R	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			7	711	-			183					B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.548A>G	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.873481	0.51695	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;T	0.82433	-1.61;-1.01	5.5	5.5	0.81552	.	0.337596	0.35407	N	0.003236	T	0.67183	0.2866	N	0.08118	0	0.39345	D	0.965658	B;B;B	0.17852	0.024;0.002;0.003	B;B;B	0.12156	0.007;0.003;0.002	T	0.63892	-0.6534	10	0.21540	T	0.41	.	13.3049	0.60347	0.0:0.0:0.0:1.0	.	183;183;183	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	R	183	ENSP00000361971:K183R;ENSP00000308176:K183R	ENSP00000308176:K183R	K	-	2	0	BTK	100503857	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	4.363000	0.59473	1.858000	0.53909	0.430000	0.28490	AAG		0.493	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		8	34	0	0	0	1	0	8	34				
SIX6	4990	broad.mit.edu	37	14	60976389	60976389	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr14:60976389G>T	ENST00000327720.5	+	1	721	c.273G>T	c.(271-273)tgG>tgT	p.W91C		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	91					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		AGGCGCTGTGGCTTGAAGCAC	0.582																																						ENST00000327720.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11						c.(271-273)tgG>tgT		SIX homeobox 6							43.0	44.0	44.0					14																	60976389		2203	4300	6503	SO:0001583	missense	4990				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:60976389G>T	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.273G>T	14.37:g.60976389G>T	ENSP00000328596:p.Trp91Cys						p.W91C	NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)	1	721	+			91					Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	37	c.273G>T	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188821	0.78789	.	.	ENSG00000184302	ENST00000327720	D	0.97138	-4.26	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99075	1.0835	10	0.87932	D	0	.	18.6065	0.91268	0.0:0.0:1.0:0.0	.	91	O95475	SIX6_HUMAN	C	91	ENSP00000328596:W91C	ENSP00000328596:W91C	W	+	3	0	SIX6	60046142	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.657000	0.98554	2.873000	0.98535	0.563000	0.77884	TGG		0.582	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			3	37	1	0	0.004672	1	0.00485169	3	37				
RP1L1	94137	broad.mit.edu	37	8	10465188	10465188	+	Silent	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:10465188C>T	ENST00000382483.3	-	4	6643	c.6420G>A	c.(6418-6420)gaG>gaA	p.E2140E		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2220	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAGGCTGGGCCTCCCCTTCAG	0.622																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6418-6420)gaG>gaA		retinitis pigmentosa 1-like 1							156.0	170.0	165.0					8																	10465188		1900	4109	6009	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10465188C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6420G>A	8.37:g.10465188C>T							p.E2140E	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6643	-			2140					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.6420G>A	CCDS43708.1																																																																																				0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			18	219	0	0	0	1	0	18	219				
AK9	221264	broad.mit.edu	37	6	109819114	109819114	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:109819114G>T	ENST00000424296.2	-	37	5177	c.5101C>A	c.(5101-5103)Cca>Aca	p.P1701T	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1701					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TCAGCAGATGGGAGTGGATGA	0.453																																						ENST00000424296.2																			0											c.(5101-5103)Cca>Aca		adenylate kinase 9							134.0	126.0	129.0					6																	109819114		2203	4300	6503	SO:0001583	missense	221264							g.chr6:109819114G>T	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5101C>A	6.37:g.109819114G>T	ENSP00000410186:p.Pro1701Thr					RP5-919F19.5_ENST00000423747.1_RNA	p.P1701T	NM_001145128.2	NP_001138600.2					37	5177	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.5101C>A	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.556430|3.556430	0.65425|0.65425	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000490722|ENST00000424296	.|T	.|0.75477	.|-0.94	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.85745|0.85745	0.5768|0.5768	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.97110	.|1.0;0.957	D|D	0.86167|0.86167	0.1597|0.1597	6|9	.|.	.|.	.|.	.|.	19.0284|19.0284	0.92944|0.92944	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|86;1701	.|B7ZL24;Q5TCS8	.|.;AKD1_HUMAN	H|T	101|1701	.|ENSP00000410186:P1701T	.|.	P|P	-|-	2|1	0|0	AKD1|AKD1	109925807|109925807	1.000000|1.000000	0.71417|0.71417	0.693000|0.693000	0.30195|0.30195	0.336000|0.336000	0.28762|0.28762	6.549000|6.549000	0.73900|0.73900	2.502000|2.502000	0.84385|0.84385	0.561000|0.561000	0.74099|0.74099	CCC|CCA		0.453	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		11	63	1	0	7.03913e-09	1	7.83738e-09	11	63				
SLC6A18	348932	broad.mit.edu	37	5	1242892	1242892	+	Missense_Mutation	SNP	G	G	A	rs369530348		TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:1242892G>A	ENST00000324642.3	+	8	1168	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	349					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTACCCAGCCGTCCTCATGCA	0.597																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1045-1047)Gtc>Atc		solute carrier family 6 (neutral amino acid transporter), member 18		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	147.0	123.0	131.0		1045	0.7	0.0	5		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC6A18	NM_182632.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	349/629	1242892	2,13004	2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1242892G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1045G>A	5.37:g.1242892G>A	ENSP00000323549:p.Val349Ile					SLC6A18_ENST00000296821.4_Intron	p.V349I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1168	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		349						Missense_Mutation	SNP	ENST00000324642.3	37	c.1045G>A	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	5.959	0.360962	0.11296	2.27E-4	1.16E-4	ENSG00000164363	ENST00000324642	T	0.74315	-0.83	4.71	0.721	0.18219	.	0.713073	0.13281	N	0.399748	T	0.54791	0.1880	L	0.31926	0.97	0.09310	N	1	P	0.45212	0.853	B	0.38106	0.265	T	0.44742	-0.9308	10	0.30078	T	0.28	.	3.5149	0.07721	0.094:0.2408:0.4754:0.1898	.	349	Q96N87	S6A18_HUMAN	I	349	ENSP00000323549:V349I	ENSP00000323549:V349I	V	+	1	0	SLC6A18	1295892	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.273000	0.18662	0.413000	0.25759	0.561000	0.74099	GTC		0.597	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		10	78	0	0	0	1	0	10	78				
GLOD4	51031	broad.mit.edu	37	17	679061	679061	+	Silent	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:679061C>T	ENST00000301328.5	-	5	428	c.405G>A	c.(403-405)ccG>ccA	p.P135P	GLOD4_ENST00000301329.6_Silent_p.P120P|GLOD4_ENST00000536578.1_Silent_p.P111P			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	135						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TATATCCTCCCGGGGCCTCGG	0.502																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(358-360)ccG>ccA		glyoxalase domain containing 4							93.0	92.0	92.0					17																	679061		2203	4300	6503	SO:0001819	synonymous_variant	51031					mitochondrion		g.chr17:679061C>T	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.405G>A	17.37:g.679061C>T						GLOD4_ENST00000301328.5_Silent_p.P135P|GLOD4_ENST00000536578.1_Silent_p.P111P	p.P120P	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	4	445	-			135					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	ENST00000301328.5	37	c.360G>A																																																																																					0.502	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		7	86	0	0	0	1	0	7	86				
SSH1	54434	broad.mit.edu	37	12	109181883	109181883	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:109181883C>T	ENST00000326495.5	-	15	3124	c.3031G>A	c.(3031-3033)Gaa>Aaa	p.E1011K	SSH1_ENST00000360239.3_Missense_Mutation_p.E699K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1011	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGAAGATTCACTCAAAGTG	0.577																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3031-3033)Gaa>Aaa		slingshot protein phosphatase 1							132.0	134.0	134.0					12																	109181883		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109181883C>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.3031G>A	12.37:g.109181883C>T	ENSP00000315713:p.Glu1011Lys					SSH1_ENST00000360239.3_Missense_Mutation_p.E699K	p.E1011K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	3124	-			1011			Interaction with YWHAG.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.3031G>A	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425346	0.43020	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12465	2.85;2.68	5.27	-1.67	0.08238	.	1.385860	0.04615	N	0.401016	T	0.11707	0.0285	L	0.47716	1.5	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.39396	-0.9616	10	0.10377	T	0.69	-0.0035	7.8504	0.29451	0.0:0.418:0.3857:0.1963	.	1011;699	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	K	699;1011	ENSP00000353374:E699K;ENSP00000315713:E1011K	ENSP00000315713:E1011K	E	-	1	0	SSH1	107706012	0.001000	0.12720	0.000000	0.03702	0.084000	0.17831	0.676000	0.25247	-0.530000	0.06349	0.650000	0.86243	GAA		0.577	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		10	172	0	0	0	1	0	10	172				
POLD1	5424	broad.mit.edu	37	19	50905484	50905484	+	Silent	SNP	C	C	T	rs147881471	byFrequency	TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:50905484C>T	ENST00000440232.2	+	6	665	c.612C>T	c.(610-612)caC>caT	p.H204H	POLD1_ENST00000595904.1_Silent_p.H204H|POLD1_ENST00000599857.1_Silent_p.H204H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	204					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACCACGGGCACGGCCCCTCCC	0.701								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(610-612)caC>caT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit		T		13,4387	19.1+/-41.9	0,13,2187	47.0	50.0	49.0		612	-4.0	0.6	19	dbSNP_134	49	0,8582		0,0,4291	no	coding-synonymous	POLD1	NM_002691.2		0,13,6478	TT,TC,CC		0.0,0.2955,0.1001		204/1108	50905484	13,12969	2200	4291	6491	SO:0001819	synonymous_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905484C>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.612C>T	19.37:g.50905484C>T						POLD1_ENST00000595904.1_Silent_p.H204H|POLD1_ENST00000599857.1_Silent_p.H204H	p.H204H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	6	665	+		all_neural(266;0.0571)	204					Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	c.612C>T	CCDS12795.1																																																																																				0.701	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			6	70	0	0	0	1	0	6	70				
NKRF	55922	broad.mit.edu	37	X	118723885	118723885	+	Silent	SNP	A	A	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:118723885A>G	ENST00000371527.1	-	2	2155	c.1503T>C	c.(1501-1503)taT>taC	p.Y501Y	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Silent_p.Y516Y|NKRF_ENST00000304449.5_Silent_p.Y501Y	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	501					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CAGCAGCTTCATATTTGACAG	0.423																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1501-1503)taT>taC		NFKB repressing factor							102.0	103.0	103.0					X																	118723885		2203	4300	6503	SO:0001819	synonymous_variant	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118723885A>G	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1503T>C	X.37:g.118723885A>G						NKRF_ENST00000304449.5_Silent_p.Y501Y|NKRF_ENST00000542113.1_Silent_p.Y516Y|NKRF_ENST00000487600.1_Intron	p.Y501Y	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	2155	-			501					G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	37	c.1503T>C	CCDS35375.1																																																																																				0.423	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		10	89	0	0	0	1	0	10	89				
ATP10D	57205	broad.mit.edu	37	4	47537632	47537632	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr4:47537632G>A	ENST00000273859.3	+	6	1152	c.883G>A	c.(883-885)Ggc>Agc	p.G295S	ATP10D_ENST00000504445.1_Splice_Site_p.G295S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	295					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GGTTTATGCAGGTCGGTTATG	0.373																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.e6+1		ATPase, class V, type 10D							170.0	159.0	163.0					4																	47537632		2203	4300	6503	SO:0001630	splice_region_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47537632G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.883+1G>A	4.37:g.47537632G>A						ATP10D_ENST00000504445.1_Splice_Site_p.G295_splice	p.G295_splice	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			6	1152	+			295					A2RRC8|D6REN2|Q8NC70|Q96SR3	Splice_Site	SNP	ENST00000273859.3	37	c.883_splice	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982408	0.93044	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.93953	-3.32;-3.32	5.31	5.31	0.75309	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.058381	0.64402	D	0.000002	D	0.98576	0.9524	H	0.99794	4.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99568	1.0970	10	0.87932	D	0	-20.0537	18.3416	0.90307	0.0:0.0:1.0:0.0	.	295;295	Q9P241;Q6PEW3	AT10D_HUMAN;.	S	295	ENSP00000273859:G295S;ENSP00000420909:G295S	ENSP00000273859:G295S	G	+	1	0	ATP10D	47232389	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	7.957000	0.87870	2.635000	0.89317	0.563000	0.77884	GGC		0.373	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	Missense_Mutation	4	67	0	0	0	1	0	4	67				
CAMTA1	23261	broad.mit.edu	37	1	7724935	7724935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:7724935delG	ENST00000303635.7	+	9	2535	c.2328delG	c.(2326-2328)ctgfs	p.L776fs	CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.L776fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	776					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCTCCGACCTGATCAACGACT	0.627			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2326-2328)ctfs		calmodulin binding transcription activator 1							166.0	188.0	180.0					1																	7724935		2203	4300	6503	SO:0001589	frameshift_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724935delG	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2328delG	1.37:g.7724935delG	ENSP00000306522:p.Leu776fs					CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.L776fs	p.L776fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2535	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	776					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Frame_Shift_Del	DEL	ENST00000303635.7	37	c.2328delG	CCDS30576.1																																																																																				0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		42	305						42	305	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			440926							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			4	6						4	6	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25472599	25472600	+	RNA	INS	-	-	C	rs386782168|rs77595280|rs113949193|rs79275127	byFrequency	TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr15:25472599_25472600insC	ENST00000453082.2	+	0	1238				SNORD115-31_ENST00000365318.1_RNA|SNORD115-30_ENST00000364117.1_RNA|SNORD115-32_ENST00000364079.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGCACAAGTGACCCCCCCAGCC	0.584																																						ENST00000453082.2																			0																																																			104472715							g.chr15:25472599_25472600insC			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25472606_25472606dupC								NR_003343.1						0	1238	+									RNA	INS	ENST00000453082.2	37																																																																																						0.584	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			5	1						5	1	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			100216544							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	4						3	4	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		10	208						10	208	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578397	7578398	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:7578397_7578398insG	ENST00000269305.4	-	5	721_722	c.532_533insC	c.(532-534)cacfs	p.H178fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.H178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.H178fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Ins_p.H178fs	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	178	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma). {ECO:0000269|PubMed:1303181}.|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178P(6)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCGCTCATGGTGGGGGCAGCGC	0.644		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		107	Deletion - Frameshift(38)|Substitution - Missense(27)|Deletion - In frame(26)|Whole gene deletion(8)|Insertion - Frameshift(5)|Complex - deletion inframe(3)	p.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178P(6)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(23)|breast(14)|upper_aerodigestive_tract(11)|ovary(9)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|endometrium(6)|skin(6)|oesophagus(5)|bone(5)|lung(4)|stomach(3)|liver(2)|pancreas(2)|thyroid(1)|vulva(1)|biliary_tract(1)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD983489	TP53	D	rs68130327	c.(532-534)ccafs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578397_7578398insG	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.533dupC	17.37:g.7578402_7578402dupG	ENSP00000269305:p.His178fs	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_ENST00000455263.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000574684.1_5'UTR	p.P178fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	664_665	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	178		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.532_533insC	CCDS11118.1																																																																																				0.644	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	61						9	61	---	---	---	---
