#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
STOM	2040	broad.mit.edu	37	9	124111399	124111399	+	Splice_Site	SNP	T	T	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr9:124111399T>A	ENST00000286713.2	-	5	541	c.524A>T	c.(523-525)cAg>cTg	p.Q175L	STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Splice_Site_p.Q124L	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	175					protein homooligomerization (GO:0051260)|regulation of acid-sensing ion channel activity (GO:1901585)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|vesicle (GO:0031982)				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		ACTCCCCACCTGCATGTTGTG	0.448																																						ENST00000286713.2																			0				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6						c.e5+1		stomatin							84.0	72.0	76.0					9																	124111399		2203	4300	6503	SO:0001630	splice_region_variant	2040				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding	g.chr9:124111399T>A		CCDS6830.1, CCDS6831.1, CCDS75892.1	9q34.1	2008-07-21	2002-11-11	2002-11-15	ENSG00000148175	ENSG00000148175			3383	protein-coding gene	gene with protein product		133090	"""erythrocyte membrane protein band 7.2 (stomatin)"""	EPB7, EPB72		1883838	Standard	NM_198194		Approved	BND7	uc004blh.4	P27105	OTTHUMG00000020590	ENST00000286713.2:c.525+1A>T	9.37:g.124111399T>A						STOM_ENST00000538954.1_Splice_Site_p.Q124_splice|STOM_ENST00000347359.2_Intron	p.Q175_splice	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)	5	541	-			175					B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Splice_Site	SNP	ENST00000286713.2	37	c.525_splice	CCDS6830.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.646730	0.87958	.	.	ENSG00000148175	ENST00000286713;ENST00000538954	D;D	0.94376	-3.41;-3.41	5.5	5.5	0.81552	Band 7/stomatin-like, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91327	0.7265	L	0.42744	1.35	0.80722	D	1	P	0.39404	0.672	B	0.41088	0.347	D	0.92035	0.5636	10	0.66056	D	0.02	.	14.9457	0.71029	0.0:0.0:0.0:1.0	.	175	P27105	STOM_HUMAN	L	175;124	ENSP00000286713:Q175L;ENSP00000445764:Q124L	ENSP00000286713:Q175L	Q	-	2	0	STOM	123151220	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.672000	0.83956	2.308000	0.77769	0.533000	0.62120	CAG		0.448	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053889.1	NM_004099	Missense_Mutation	3	30	0	0	0	1	0	3	30				
FAM198B	51313	broad.mit.edu	37	4	159091713	159091713	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr4:159091713A>G	ENST00000296530.8	-	2	1436	c.815T>C	c.(814-816)tTg>tCg	p.L272S	RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.L272S|FAM198B_ENST00000585682.1_Missense_Mutation_p.L272S|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Missense_Mutation_p.L272S|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	272						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						ACTCATGTCCAAGGGCTGCTT	0.617											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(814-816)tTg>tCg		family with sequence similarity 198, member B							50.0	56.0	54.0					4																	159091713		2203	4300	6503	SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159091713A>G		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.815T>C	4.37:g.159091713A>G	ENSP00000296530:p.Leu272Ser		OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1798	FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Missense_Mutation_p.L272S|FAM198B_ENST00000585682.1_Missense_Mutation_p.L272S|FAM198B_ENST00000393807.5_Missense_Mutation_p.L272S	p.L272S	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			2	1436	-			272					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.815T>C	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.984407	0.53934	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.29917	1.55;1.55	5.44	5.44	0.79542	.	0.071429	0.56097	D	0.000022	T	0.49830	0.1580	M	0.68952	2.095	0.51482	D	0.999929	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.79784	0.993;0.931;0.925	T	0.47032	-0.9148	10	0.08381	T	0.77	4.0338	15.487	0.75575	1.0:0.0:0.0:0.0	.	272;272;272	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	S	272	ENSP00000296530:L272S;ENSP00000377396:L272S	ENSP00000296530:L272S	L	-	2	0	FAM198B	159311163	0.901000	0.30685	0.897000	0.35233	0.985000	0.73830	5.368000	0.66133	2.054000	0.61138	0.460000	0.39030	TTG		0.617	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		13	40	0	0	0	1	0	13	40				
FAM179B	23116	broad.mit.edu	37	14	45512902	45512902	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr14:45512902G>A	ENST00000361577.3	+	12	4040	c.3826G>A	c.(3826-3828)Gag>Aag	p.E1276K	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.E1276K|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1276										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAAGAAAATTGAGGGACTGAA	0.343																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(3826-3828)Gag>Aag		family with sequence similarity 179, member B							74.0	75.0	74.0					14																	45512902		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45512902G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.3826G>A	14.37:g.45512902G>A	ENSP00000355045:p.Glu1276Lys					FAM179B_ENST00000361577.3_Missense_Mutation_p.E1276K|FAM179B_ENST00000382233.2_3'UTR	p.E1276K			Q9Y4F4	F179B_HUMAN			12	4009	+			1276					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.3826G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226442	0.79576	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.16457	2.34;2.34	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	N	0.25992	0.78	0.80722	D	1	P;D	0.76494	0.741;0.999	P;D	0.77557	0.772;0.99	T	0.02813	-1.1107	10	0.15952	T	0.53	-17.5695	18.1925	0.89812	0.0:0.0:1.0:0.0	.	1276;1276	G3XAE9;Q9Y4F4	.;F179B_HUMAN	K	1276	ENSP00000355045:E1276K;ENSP00000354917:E1276K	ENSP00000354917:E1276K	E	+	1	0	FAM179B	44582652	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.924000	0.70054	2.652000	0.90054	0.563000	0.77884	GAG		0.343	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		13	16	0	0	0	1	0	13	16				
ATP2C1	27032	broad.mit.edu	37	3	130682857	130682857	+	Silent	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:130682857C>T	ENST00000510168.1	+	13	1492	c.942C>T	c.(940-942)gtC>gtT	p.V314V	ATP2C1_ENST00000422190.2_Silent_p.V314V|ATP2C1_ENST00000513801.1_Silent_p.V298V|ATP2C1_ENST00000393221.4_Silent_p.V348V|ATP2C1_ENST00000504381.1_Silent_p.V259V|ATP2C1_ENST00000533801.2_Silent_p.V309V|ATP2C1_ENST00000504948.1_Silent_p.V298V|ATP2C1_ENST00000505330.1_Silent_p.V298V|ATP2C1_ENST00000508532.1_Silent_p.V314V|ATP2C1_ENST00000507488.2_Silent_p.V298V|ATP2C1_ENST00000428331.2_Silent_p.V314V|ATP2C1_ENST00000359644.3_Silent_p.V314V|ATP2C1_ENST00000328560.8_Silent_p.V314V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	314					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCATTGTGGTCACAGTGACGC	0.408									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(940-942)gtC>gtT		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						191.0	183.0	186.0					3																	130682857		2203	4300	6503	SO:0001819	synonymous_variant	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130682857C>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.942C>T	3.37:g.130682857C>T						ATP2C1_ENST00000504948.1_Silent_p.V298V|ATP2C1_ENST00000505330.1_Silent_p.V298V|ATP2C1_ENST00000507488.2_Silent_p.V298V|ATP2C1_ENST00000359644.3_Silent_p.V314V|ATP2C1_ENST00000422190.2_Silent_p.V314V|ATP2C1_ENST00000428331.2_Silent_p.V314V|ATP2C1_ENST00000393221.4_Silent_p.V348V|ATP2C1_ENST00000508532.1_Silent_p.V314V|ATP2C1_ENST00000513801.1_Silent_p.V298V|ATP2C1_ENST00000328560.8_Silent_p.V314V|ATP2C1_ENST00000533801.2_Silent_p.V309V|ATP2C1_ENST00000504381.1_Silent_p.V259V	p.V314V			P98194	AT2C1_HUMAN			13	1492	+			314					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	ENST00000510168.1	37	c.942C>T	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248400	0.22880	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.85	3.89	0.44902	.	.	.	.	.	T	0.59169	0.2174	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54022	-0.8355	4	.	.	.	.	9.7211	0.40304	0.2974:0.5988:0.1037:0.0	.	.	.	.	L	268	.	.	S	+	2	0	ATP2C1	132165547	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	2.769000	0.95229	0.491000	0.48974	TCA		0.408	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		33	211	0	0	0	1	0	33	211				
TMCC2	9911	broad.mit.edu	37	1	205211155	205211155	+	Missense_Mutation	SNP	G	G	A	rs148387041		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:205211155G>A	ENST00000358024.3	+	2	1119	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.E166K	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	244				TALLLADGSNVYLLAEEAEGIGDK -> MNQVVQPLMSRHS ACRGSQAHLSW (in Ref. 8; BAB46924). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGAGGAGGCCGAAGGCATCGG	0.672																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(730-732)Gaa>Aaa		transmembrane and coiled-coil domain family 2		G	LYS/GLU,LYS/GLU	1,4375		0,1,2187	21.0	21.0	21.0		496,730	5.2	0.5	1	dbSNP_134	21	1,8523		0,1,4261	yes	missense,missense	TMCC2	NM_001242925.1,NM_014858.3	56,56	0,2,6448	AA,AG,GG		0.0117,0.0229,0.0155	benign,benign	166/632,244/710	205211155	2,12898	2188	4262	6450	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205211155G>A	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.730G>A	1.37:g.205211155G>A	ENSP00000350718:p.Glu244Lys					TMCC2_ENST00000545499.1_Missense_Mutation_p.E166K|TMCC2_ENST00000495538.1_3'UTR	p.E244K	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	1119	+	Breast(84;0.0871)		244	TALLLADGSNVYLLAEEAEGIGDK -> MNQVVQPLMSRHS ACRGSQAHLSW (in Ref. 6).				A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.730G>A	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.573258	0.45902	2.29E-4	1.17E-4	ENSG00000133069	ENST00000358024;ENST00000545499	T;T	0.31769	1.48;1.5	5.19	5.19	0.71726	.	0.364903	0.24881	N	0.034857	T	0.44746	0.1308	L	0.36672	1.1	0.47245	D	0.999364	D	0.63046	0.992	P	0.62649	0.905	T	0.40979	-0.9534	10	0.87932	D	0	.	16.4984	0.84251	0.0:0.0:1.0:0.0	.	244	O75069	TMCC2_HUMAN	K	244;166	ENSP00000350718:E244K;ENSP00000437943:E166K	ENSP00000350718:E244K	E	+	1	0	TMCC2	203477778	1.000000	0.71417	0.503000	0.27626	0.673000	0.39480	5.806000	0.69150	2.400000	0.81607	0.563000	0.77884	GAA		0.672	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		10	30	0	0	0	1	0	10	30				
UBOX5	22888	broad.mit.edu	37	20	3102422	3102422	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:3102422G>A	ENST00000217173.2	-	3	1334	c.863C>T	c.(862-864)aCa>aTa	p.T288I	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.T288I	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CTTCTCCAGTGTGCTCTGGTC	0.582																																						ENST00000217173.2																			0				endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						c.(862-864)aCa>aTa		U-box domain containing 5							52.0	47.0	49.0					20																	3102422		2203	4300	6503	SO:0001583	missense	22888					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr20:3102422G>A	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.863C>T	20.37:g.3102422G>A	ENSP00000217173:p.Thr288Ile					UBOX5_ENST00000348031.2_Missense_Mutation_p.T288I|UBOX5-AS1_ENST00000446537.1_RNA	p.T288I	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN			3	1334	-			288			U-box.			Missense_Mutation	SNP	ENST00000217173.2	37	c.863C>T	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370677	0.82573	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.56941	0.43;0.6	5.42	5.42	0.78866	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	U	0.000000	T	0.73353	0.3576	M	0.70787	2.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75476	-0.3304	10	0.66056	D	0.02	-10.8299	19.2336	0.93849	0.0:0.0:1.0:0.0	.	288;288;288	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	I	288	ENSP00000217173:T288I;ENSP00000311726:T288I	ENSP00000217173:T288I	T	-	2	0	UBOX5	3050422	1.000000	0.71417	0.951000	0.38953	0.949000	0.60115	8.585000	0.90802	2.534000	0.85438	0.563000	0.77884	ACA		0.582	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		16	48	0	0	0	1	0	16	48				
WDR49	151790	broad.mit.edu	37	3	167278011	167278011	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:167278011G>A	ENST00000308378.3	-	5	797	c.492C>T	c.(490-492)atC>atT	p.I164I	WDR49_ENST00000476376.1_5'UTR|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.I217I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	164										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TATCAGAGCTGATTACCTAAG	0.368																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(490-492)atC>atT		WD repeat domain 49							68.0	68.0	68.0					3																	167278011		2203	4300	6503	SO:0001819	synonymous_variant	151790							g.chr3:167278011G>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.492C>T	3.37:g.167278011G>A						WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.I217I|WDR49_ENST00000476376.1_5'UTR	p.I164I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			5	797	-			164					Q8N297	Silent	SNP	ENST00000308378.3	37	c.492C>T	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	4.419	0.077506	0.08485	.	.	ENSG00000174776	ENST00000472600	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	T	0.73289	0.3568	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72789	-0.4187	4	.	.	.	.	17.2833	0.87134	0.0:0.0:1.0:0.0	.	.	.	.	L	229	.	.	S	-	2	0	WDR49	168760705	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	2.333000	0.43912	2.445000	0.82738	0.585000	0.79938	TCA		0.368	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		14	75	0	0	0	1	0	14	75				
MAP1B	4131	broad.mit.edu	37	5	71411527	71411527	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:71411527A>C	ENST00000296755.7	+	2	485	c.187A>C	c.(187-189)Atc>Ctc	p.I63L	MAP1B_ENST00000504183.1_3'UTR	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	63					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCCCTAGGAATCCGATCATG	0.443																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(187-189)Atc>Ctc		microtubule-associated protein 1B							119.0	107.0	111.0					5																	71411527		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71411527A>C	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.187A>C	5.37:g.71411527A>C	ENSP00000296755:p.Ile63Leu					MAP1B_ENST00000504183.1_3'UTR	p.I63L	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	2	485	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	63					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.187A>C	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543639	0.86022	.	.	ENSG00000131711	ENST00000512974;ENST00000296755;ENST00000511641	T;T	0.06142	3.91;3.34	5.75	5.75	0.90469	.	0.000000	0.52532	D	0.000064	T	0.20618	0.0496	L	0.51422	1.61	0.80722	D	1	D	0.64830	0.994	D	0.72625	0.978	T	0.00129	-1.2016	10	0.72032	D	0.01	-22.182	16.0623	0.80847	1.0:0.0:0.0:0.0	.	63	P46821	MAP1B_HUMAN	L	63	ENSP00000296755:I63L;ENSP00000423444:I63L	ENSP00000296755:I63L	I	+	1	0	MAP1B	71447283	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.685000	0.91246	2.195000	0.70347	0.533000	0.62120	ATC		0.443	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		23	36	0	0	0	1	0	23	36				
SSTR4	6754	broad.mit.edu	37	20	23016246	23016246	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:23016246G>A	ENST00000255008.3	+	1	190	c.126G>A	c.(124-126)gcG>gcA	p.A42A	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	42					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ccggggacgcgcgggcggcgg	0.726																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(124-126)gcG>gcA		somatostatin receptor 4							27.0	36.0	33.0					20																	23016246		2134	4248	6382	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016246G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.126G>A	20.37:g.23016246G>A						RP4-753D10.3_ENST00000440921.1_RNA	p.A42A	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	190	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		42					Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.126G>A	CCDS42856.1																																																																																				0.726	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			16	75	0	0	0	1	0	16	75				
UPF3B	65109	broad.mit.edu	37	X	118977252	118977252	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chrX:118977252C>T	ENST00000276201.2	-	5	551	c.482G>A	c.(481-483)aGa>aAa	p.R161K	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Missense_Mutation_p.R161K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	161	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CAAAAACTTTCTATATTCTGG	0.284																																						ENST00000276201.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						c.(481-483)aGa>aAa		UPF3 regulator of nonsense transcripts homolog B (yeast)							156.0	139.0	145.0					X																	118977252		2202	4300	6502	SO:0001583	missense	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118977252C>T	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.482G>A	X.37:g.118977252C>T	ENSP00000276201:p.Arg161Lys					UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Missense_Mutation_p.R161K	p.R161K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN			5	551	-			161			Necessary for interaction with UPF2.|Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.482G>A	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	C	7.062	0.566558	0.13560	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.61859	0.07;0.07	5.08	4.09	0.47781	Regulator of nonsense-mediated decay, UPF3 (1);	0.045406	0.85682	D	0.000000	T	0.15739	0.0379	N	0.00465	-1.465	0.38519	D	0.948677	B;B	0.18310	0.001;0.027	B;B	0.17979	0.003;0.02	T	0.39078	-0.9631	10	0.02654	T	1	.	3.2586	0.06840	0.0:0.5781:0.0:0.4219	.	161;161	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	K	161	ENSP00000276201:R161K;ENSP00000245418:R161K	ENSP00000276201:R161K	R	-	2	0	UPF3B	118861280	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.715000	0.61909	2.108000	0.64289	0.594000	0.82650	AGA		0.284	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			3	22	0	0	0	1	0	3	22				
TTN	7273	broad.mit.edu	37	2	179454894	179454894	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr2:179454894C>T	ENST00000591111.1	-	254	56859	c.56635G>A	c.(56635-56637)Gaa>Aaa	p.E18879K	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11647K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11455K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11580K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E20520K|TTN_ENST00000342992.6_Missense_Mutation_p.E17952K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18879	Ig-like 107.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCTCTTTTCTCGGACCAAT	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(61558-61560)Gaa>Aaa		titin							177.0	169.0	172.0					2																	179454894		1933	4124	6057	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454894C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56635G>A	2.37:g.179454894C>T	ENSP00000465570:p.Glu18879Lys					TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11455K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18879K|TTN_ENST00000342992.6_Missense_Mutation_p.E17952K|TTN_ENST00000359218.5_Missense_Mutation_p.E11580K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11647K|TTN-AS1_ENST00000592689.1_RNA	p.E20520K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61782	-			18879			Fibronectin type-III 49.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.61558G>A		.	.	.	.	.	.	.	.	.	.	C	11.52	1.664364	0.29604	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31544	0.0800	N	0.10760	0.04	0.35630	D	0.810104	B;B;B;B	0.21147	0.052;0.052;0.052;0.052	B;B;B;B	0.24701	0.029;0.029;0.055;0.055	T	0.36720	-0.9736	9	0.87932	D	0	.	20.3955	0.98984	0.0:1.0:0.0:0.0	.	11455;11580;11647;18879	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	17952;11455;11647;11580;11453	ENSP00000343764:E17952K;ENSP00000434586:E11455K;ENSP00000340554:E11647K;ENSP00000352154:E11580K	ENSP00000340554:E11647K	E	-	1	0	TTN	179163140	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	5.893000	0.69798	2.830000	0.97506	0.655000	0.94253	GAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	42	0	0	0	1	0	26	42				
GRM7	2917	broad.mit.edu	37	3	7620617	7620617	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:7620617C>T	ENST00000357716.4	+	8	2298	c.2024C>T	c.(2023-2025)aCg>aTg	p.T675M	GRM7_ENST00000389336.4_Missense_Mutation_p.T675M|GRM7_ENST00000402647.2_Missense_Mutation_p.T675M|GRM7_ENST00000486284.1_Missense_Mutation_p.T675M|GRM7_ENST00000403881.1_Missense_Mutation_p.T675M|GRM7_ENST00000458641.2_3'UTR	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	675					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GCCCTCTTGACGAAAACAAAT	0.458																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2023-2025)aCg>aTg		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						101.0	91.0	94.0					3																	7620617		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620617C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2024C>T	3.37:g.7620617C>T	ENSP00000350348:p.Thr675Met					GRM7_ENST00000403881.1_Missense_Mutation_p.T675M|GRM7_ENST00000357716.4_Missense_Mutation_p.T675M|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.T675M|GRM7_ENST00000389336.4_Missense_Mutation_p.T675M	p.T675M	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2298	+			675					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2024C>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290035	0.59976	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.956;0.997;0.999;0.998;0.981	D	0.95329	0.8428	10	0.87932	D	0	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	675;675;430;675;675	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	M	675	ENSP00000350348:T675M;ENSP00000417536:T675M;ENSP00000373987:T675M;ENSP00000385664:T675M;ENSP00000384585:T675M	ENSP00000350348:T675M	T	+	2	0	GRM7	7595617	1.000000	0.71417	0.976000	0.42696	0.205000	0.24178	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ACG		0.458	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		15	40	0	0	0	1	0	15	40				
WDFY3	23001	broad.mit.edu	37	4	85741276	85741276	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr4:85741276G>C	ENST00000295888.4	-	12	2062	c.1655C>G	c.(1654-1656)aCc>aGc	p.T552S	WDFY3_ENST00000322366.6_Missense_Mutation_p.T552S	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	552					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CACTGTCAAGGTCTCCATAAC	0.368																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1654-1656)aCc>aGc		WD repeat and FYVE domain containing 3							211.0	225.0	220.0					4																	85741276		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85741276G>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1655C>G	4.37:g.85741276G>C	ENSP00000295888:p.Thr552Ser					WDFY3_ENST00000295888.4_Missense_Mutation_p.T552S	p.T552S			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	12	2062	-		Hepatocellular(203;0.114)	552					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.1655C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079369	0.55753	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63913	-0.07;-0.06	5.68	5.68	0.88126	Armadillo-like helical (1);	0.144555	0.64402	D	0.000008	T	0.61048	0.2316	M	0.71581	2.175	0.48452	D	0.999651	B;P	0.45078	0.192;0.85	B;B	0.39904	0.068;0.313	T	0.61959	-0.6955	10	0.07482	T	0.82	.	19.839	0.96675	0.0:0.0:1.0:0.0	.	552;552	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	S	552	ENSP00000318466:T552S;ENSP00000295888:T552S	ENSP00000295888:T552S	T	-	2	0	WDFY3	85960300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.021000	0.93673	2.678000	0.91216	0.579000	0.79373	ACC		0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		48	122	0	0	0	1	0	48	122				
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A	rs202223627		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517																																						ENST00000375050.4																			3	Substitution - Missense(3)	p.Y262F(3)	lung(3)	endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(784-786)tAt>tTt		pre-B-cell leukemia homeobox 2																																				SO:0001583	missense	5089						transcription factor binding	g.chr6:32155509T>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.785A>T	6.37:g.32155509T>A	ENSP00000364190:p.Tyr262Phe						p.Y262F	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			5	1055	-			262					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.785A>T	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.841111	0.71488	.	.	ENSG00000204304	ENST00000375050	D	0.83673	-1.75	4.63	4.63	0.57726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.201957	0.34435	N	0.003969	T	0.61837	0.2379	N	0.10629	0.01	0.80722	D	1	P;P	0.42337	0.776;0.502	P;P	0.45232	0.474;0.458	T	0.71314	-0.4630	10	0.49607	T	0.09	-0.8351	12.0363	0.53427	0.0:0.0:0.0:1.0	.	262;262	Q7KZE5;P40425	.;PBX2_HUMAN	F	262	ENSP00000364190:Y262F	ENSP00000364190:Y262F	Y	-	2	0	PBX2	32263487	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.505000	0.81655	1.943000	0.56356	0.459000	0.35465	TAT		0.517	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			3	5	0	0	0	1	0	3	5				
MUC16	94025	broad.mit.edu	37	19	9090795	9090795	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:9090795G>A	ENST00000397910.4	-	1	1223	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	340	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACCCTTTCGGCACTTGTTT	0.527																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1018-1020)gcC>gcT		mucin 16, cell surface associated							100.0	98.0	98.0					19																	9090795		2055	4200	6255	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090795G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1020C>T	19.37:g.9090795G>A							p.A340A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1223	-			340			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1020C>T	CCDS54212.1																																																																																				0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	31	0	0	0	1	0	17	31				
GGN	199720	broad.mit.edu	37	19	38877187	38877187	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:38877187G>T	ENST00000334928.6	-	3	847	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	239	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCAGGCTCAGACCGGACTCG	0.687																																						ENST00000334928.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(715-717)Ctg>Atg		gametogenetin							18.0	21.0	20.0					19																	38877187		2094	4109	6203	SO:0001583	missense	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38877187G>T	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.715C>A	19.37:g.38877187G>T	ENSP00000334940:p.Leu239Met					AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	p.L239M	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	847	-	all_cancers(60;3.4e-06)		239			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	c.715C>A	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	7.341	0.620888	0.14193	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.91	1.73	0.24493	.	0.000000	0.33650	N	0.004697	T	0.33089	0.0851	L	0.27053	0.805	0.24652	N	0.993514	P;P	0.50272	0.933;0.933	P;P	0.55999	0.789;0.732	T	0.07616	-1.0763	9	0.44086	T	0.13	-11.5171	5.2165	0.15346	0.1175:0.2105:0.672:0.0	.	156;239	Q86UU5-2;Q86UU5	.;GGN_HUMAN	M	239	.	ENSP00000334940:L239M	L	-	1	2	GGN	43569027	0.116000	0.22171	0.657000	0.29651	0.124000	0.20399	0.042000	0.13949	0.307000	0.22880	-0.467000	0.05162	CTG		0.687	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		9	37	1	0	1.12685e-05	1	1.20418e-05	9	37				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	C	rs28392876	byFrequency	TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:16946438G>C	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672													.|||	426	0.0850639	0.0673	0.0591	5008	,	,		60824	0.0952		0.0815	False		,,,				2504	0.1207					ENST00000412962.1																			0																																																			84809							g.chr1:16946438G>C	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>C														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	14	0	0	0	1	0	4	14				
NUPL1	9818	broad.mit.edu	37	13	25887887	25887887	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr13:25887887C>T	ENST00000381736.3	+	5	822	c.572C>T	c.(571-573)tCa>tTa	p.S191L	NUPL1_ENST00000463407.1_Missense_Mutation_p.S191L|NUPL1_ENST00000381718.3_Missense_Mutation_p.S179L|NUPL1_ENST00000466694.1_3'UTR	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	191	14 X 2 AA repeats of F-G.				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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ACAGGAACATCAGGTAATTGA	0.363																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	ENST00000463407.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16						c.(571-573)tCa>tTa		nucleoporin like 1							73.0	70.0	71.0					13																	25887887		2203	4300	6503	SO:0001583	missense	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25887887C>T	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.572C>T	13.37:g.25887887C>T	ENSP00000371155:p.Ser191Leu					NUPL1_ENST00000381736.3_Missense_Mutation_p.S191L|NUPL1_ENST00000381718.3_Missense_Mutation_p.S179L|NUPL1_ENST00000466694.1_3'UTR	p.S191L			Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	5	715	+		Lung SC(185;0.0225)|Breast(139;0.0351)	191			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	c.572C>T	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880877	0.72294	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.48836	1.4;1.4;1.42;1.39;0.8	5.83	5.83	0.93111	.	1.012140	0.07901	N	0.972717	T	0.49338	0.1551	L	0.44542	1.39	0.43099	D	0.99478	B;B;B	0.19200	0.034;0.034;0.034	B;B;B	0.24394	0.033;0.033;0.053	T	0.28870	-1.0030	10	0.25106	T	0.35	-0.1679	20.1863	0.98216	0.0:1.0:0.0:0.0	.	179;191;191	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	L	191;179;168;191;179;191;138	ENSP00000371155:S191L;ENSP00000418555:S191L;ENSP00000371137:S179L;ENSP00000371166:S191L;ENSP00000408147:S138L	ENSP00000318459:S168L	S	+	2	0	NUPL1	24785887	1.000000	0.71417	0.993000	0.49108	0.793000	0.44817	5.311000	0.65786	2.781000	0.95711	0.650000	0.86243	TCA		0.363	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			11	28	0	0	0	1	0	11	28				
CHRNA4	1137	broad.mit.edu	37	20	61981275	61981275	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:61981275G>A	ENST00000370263.4	-	5	1709	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	496					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GGGCGGCATCGTCTCGGGGAA	0.701																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1486-1488)gaC>gaT		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						12.0	14.0	13.0					20																	61981275		2182	4288	6470	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981275G>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1488C>T	20.37:g.61981275G>A						CHRNA4_ENST00000463705.1_5'UTR	p.D496D	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1709	-	all_cancers(38;1.71e-10)		496					Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.1488C>T	CCDS13517.1																																																																																				0.701	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			5	13	0	0	0	1	0	5	13				
GOLGB1	2804	broad.mit.edu	37	3	121417477	121417477	+	Silent	SNP	T	T	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:121417477T>G	ENST00000340645.5	-	13	2003	c.1878A>C	c.(1876-1878)ccA>ccC	p.P626P	GOLGB1_ENST00000393667.3_Silent_p.P631P	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	626					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTCTTCATTTGGCATTAAGG	0.388																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(1891-1893)ccA>ccC		golgin B1							97.0	99.0	99.0					3																	121417477		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417477T>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1878A>C	3.37:g.121417477T>G						GOLGB1_ENST00000340645.5_Silent_p.P626P	p.P631P	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2003	-			626					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.1893A>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	5.558	0.287870	0.10513	.	.	ENSG00000173230	ENST00000489400	.	.	.	5.44	-0.089	0.13670	.	.	.	.	.	T	0.32526	0.0832	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30268	-0.9984	4	.	.	.	.	8.2953	0.31982	0.0:0.0772:0.488:0.4348	.	.	.	.	P	497	.	.	Q	-	2	0	GOLGB1	122900167	0.000000	0.05858	0.000000	0.03702	0.921000	0.55340	-0.192000	0.09587	-0.142000	0.11354	0.482000	0.46254	CAA		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		10	147	0	0	0	1	0	10	147				
ZNF713	349075	broad.mit.edu	37	7	56006940	56006940	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr7:56006940G>A	ENST00000429591.2	+	4	572	c.534G>A	c.(532-534)ctG>ctA	p.L178L	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACTGTAATCTGAACTCAAACC	0.363																																						ENST00000429591.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(532-534)ctG>ctA		zinc finger protein 713							55.0	57.0	56.0					7																	56006940		2203	4300	6503	SO:0001819	synonymous_variant	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56006940G>A	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.534G>A	7.37:g.56006940G>A						MRPS17_ENST00000426595.1_Intron	p.L178L	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	572	+	Breast(14;0.214)		178						Silent	SNP	ENST00000429591.2	37	c.534G>A	CCDS34639.1																																																																																				0.363	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		15	25	0	0	0	1	0	15	25				
SYCE2	256126	broad.mit.edu	37	19	13011306	13011306	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:13011306T>A	ENST00000293695.7	-	4	481	c.463A>T	c.(463-465)Act>Tct	p.T155S	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	155					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TTGTACACAGTCTCCACGCTG	0.517																																						ENST00000293695.7																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(463-465)Act>Tct		synaptonemal complex central element protein 2							84.0	74.0	77.0					19																	13011306		1934	4131	6065	SO:0001583	missense	256126				cell division	central element		g.chr19:13011306T>A	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"""central element synaptonemal complex 1"""	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.463A>T	19.37:g.13011306T>A	ENSP00000293695:p.Thr155Ser					GCDH_ENST00000588242.2_3'UTR	p.T155S	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN			4	481	-			155					B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	c.463A>T	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.704852	0.68615	.	.	ENSG00000161860	ENST00000293695	D	0.85411	-1.98	4.68	3.64	0.41730	.	0.777669	0.11908	N	0.517980	D	0.88713	0.6511	L	0.50333	1.59	0.28300	N	0.923169	D	0.71674	0.998	D	0.80764	0.994	T	0.78550	-0.2161	10	0.39692	T	0.17	2.1875	8.7839	0.34809	0.169:0.0:0.0:0.831	.	155	Q6PIF2	SYCE2_HUMAN	S	155	ENSP00000293695:T155S	ENSP00000293695:T155S	T	-	1	0	SYCE2	12872306	0.998000	0.40836	0.736000	0.30914	0.917000	0.54804	1.226000	0.32563	0.784000	0.33661	0.379000	0.24179	ACT		0.517	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	XM_497609		17	40	0	0	0	1	0	17	40				
ZNF300P1	134466	broad.mit.edu	37	5	150311204	150311204	+	RNA	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:150311204G>A	ENST00000520773.1	-	0	2117									zinc finger protein 300 pseudogene 1 (functional)																		ACTTCTCACTGAAGGCTTTTC	0.383																																						ENST00000520773.1																			0																																																			134466							g.chr5:150311204G>A	AK096536		5q33.1	2014-09-11	2014-01-16		ENSG00000197083	ENSG00000197083		"""-"""	27032	pseudogene	pseudogene			"""zinc finger protein 300 pseudogene 1"""			24393131	Standard	NR_026867		Approved		uc003lsz.1		OTTHUMG00000154830		5.37:g.150311204G>A														0	2117	-									RNA	SNP	ENST00000520773.1	37																																																																																						0.383	ZNF300P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374771.1	NR_026867		3	13	0	0	0	1	0	3	13				
RAB20	55647	broad.mit.edu	37	13	111176513	111176513	+	Missense_Mutation	SNP	C	C	T	rs370664083		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr13:111176513C>T	ENST00000267328.3	-	2	417	c.204G>A	c.(202-204)atG>atA	p.M68I		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	68					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCCGGCAGTACATGGAGCCCA	0.612																																						ENST00000267328.3																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(202-204)atG>atA		RAB20, member RAS oncogene family							31.0	34.0	33.0					13																	111176513		2203	4298	6501	SO:0001583	missense	55647				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr13:111176513C>T	AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"""RAB, member RAS oncogene"""	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.204G>A	13.37:g.111176513C>T	ENSP00000267328:p.Met68Ile						p.M68I	NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)		2	417	-	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		68					Q5T9X5|Q9NX49	Missense_Mutation	SNP	ENST00000267328.3	37	c.204G>A	CCDS9512.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648207	0.67358	.	.	ENSG00000139832	ENST00000267328	T	0.73363	-0.74	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.037072	0.85682	D	0.000000	T	0.62660	0.2446	N	0.13198	0.31	0.80722	D	1	B	0.21452	0.056	B	0.20955	0.032	T	0.61893	-0.6969	10	0.72032	D	0.01	-40.3884	18.4999	0.90877	0.0:1.0:0.0:0.0	.	68	Q9NX57	RAB20_HUMAN	I	68	ENSP00000267328:M68I	ENSP00000267328:M68I	M	-	3	0	RAB20	109974514	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.334000	0.79224	2.364000	0.80123	0.561000	0.74099	ATG		0.612	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045760.2	NM_017817		8	66	0	0	0	1	0	8	66				
SPACA7	122258	broad.mit.edu	37	13	113030788	113030788	+	Missense_Mutation	SNP	T	T	C	rs201471740		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr13:113030788T>C	ENST00000283550.3	+	1	156	c.89T>C	c.(88-90)aTt>aCt	p.I30T		NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	30						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						AGAACCGTGATTCCAGGTAGG	0.592																																						ENST00000283550.3																			0				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						c.(88-90)aTt>aCt		sperm acrosome associated 7							54.0	45.0	48.0					13																	113030788		2203	4300	6503	SO:0001583	missense	122258					extracellular region		g.chr13:113030788T>C	BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.89T>C	13.37:g.113030788T>C	ENSP00000283550:p.Ile30Thr						p.I30T	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN			1	156	+			30					Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	c.89T>C	CCDS9524.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.602428	0.00849	.	.	ENSG00000153498	ENST00000283550	T	0.39229	1.09	3.58	-1.85	0.07784	.	.	.	.	.	T	0.13500	0.0327	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18116	-1.0347	9	0.36615	T	0.2	-2.9393	3.4782	0.07593	0.1796:0.3787:0.0:0.4417	.	30	Q96KW9	SPAC7_HUMAN	T	30	ENSP00000283550:I30T	ENSP00000283550:I30T	I	+	2	0	SPACA7	112078789	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.273000	0.02823	-0.212000	0.10109	-0.354000	0.07668	ATT		0.592	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248		4	18	0	0	0	1	0	4	18				
CA10	56934	broad.mit.edu	37	17	49731041	49731041	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:49731041C>G	ENST00000285273.4	-	6	1633	c.522G>C	c.(520-522)aaG>aaC	p.K174N	CA10_ENST00000451037.2_Missense_Mutation_p.K174N|CA10_ENST00000340813.6_Missense_Mutation_p.K180N|CA10_ENST00000570565.1_Missense_Mutation_p.K99N|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.K174N	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	174					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	CATTTGGACTCTTTGCAGCTT	0.388																																						ENST00000451037.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(520-522)aaG>aaC		carbonic anhydrase X							108.0	102.0	104.0					17																	49731041		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49731041C>G	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.522G>C	17.37:g.49731041C>G	ENSP00000285273:p.Lys174Asn					CA10_ENST00000285273.4_Missense_Mutation_p.K174N|CA10_ENST00000442502.2_Missense_Mutation_p.K174N|CA10_ENST00000570565.1_Missense_Mutation_p.K99N|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.K180N	p.K174N	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		5	1462	-			174					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.522G>C	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098679	0.56183	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.55	2.03	0.26663	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.044995	0.85682	D	0.000000	T	0.57095	0.2030	L	0.31804	0.96	0.52501	D	0.999952	P;P;B	0.45634	0.863;0.863;0.205	P;P;B	0.49140	0.524;0.601;0.063	T	0.50874	-0.8776	9	.	.	.	.	7.8812	0.29623	0.0:0.6291:0.0:0.3709	.	174;180;99	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	N	174;174;174;180	ENSP00000390666:K174N;ENSP00000285273:K174N;ENSP00000405388:K174N;ENSP00000340363:K180N	.	K	-	3	2	CA10	47086040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.979000	0.29500	0.817000	0.34445	0.655000	0.94253	AAG		0.388	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		8	33	0	0	0	1	0	8	33				
STARD13	90627	broad.mit.edu	37	13	33703785	33703785	+	Silent	SNP	C	C	T	rs143999176	byFrequency	TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr13:33703785C>T	ENST00000336934.5	-	5	1145	c.1029G>A	c.(1027-1029)gtG>gtA	p.V343V	STARD13_ENST00000399365.3_Silent_p.V225V|STARD13_ENST00000255486.4_Silent_p.V335V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	343					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGGGCGTGCTCACCCCGCTGC	0.647																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(1027-1029)gtG>gtA		StAR-related lipid transfer (START) domain containing 13		C	,,	0,4406		0,0,2203	76.0	69.0	71.0		675,1029,1005	3.1	0.0	13	dbSNP_134	71	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	STARD13	NM_052851.2,NM_178006.3,NM_178007.2	,,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,,	225/996,343/1114,335/1106	33703785	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703785C>T	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1029G>A	13.37:g.33703785C>T						STARD13_ENST00000399365.3_Silent_p.V225V|STARD13_ENST00000255486.4_Silent_p.V335V	p.V343V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	1145	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	343					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.1029G>A	CCDS9348.1																																																																																				0.647	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		4	46	0	0	0	1	0	4	46				
MLLT4	4301	broad.mit.edu	37	6	168265244	168265244	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr6:168265244A>G	ENST00000447894.2	+	2	119	c.119A>G	c.(118-120)cAt>cGt	p.H40R	MLLT4_ENST00000400822.3_Missense_Mutation_p.H40R|MLLT4_ENST00000344191.4_Missense_Mutation_p.H40R|MLLT4_ENST00000392108.3_Missense_Mutation_p.H40R|MLLT4_ENST00000351017.4_Missense_Mutation_p.H40R|MLLT4_ENST00000366806.2_Missense_Mutation_p.H40R|MLLT4_ENST00000392112.1_Missense_Mutation_p.H40R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	40	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTGGAGTTCCATGGAGTGATG	0.338			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(118-120)cAt>cGt		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							183.0	206.0	198.0					6																	168265244		2203	4297	6500	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168265244A>G	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.119A>G	6.37:g.168265244A>G	ENSP00000404595:p.His40Arg					MLLT4_ENST00000351017.4_Missense_Mutation_p.H40R|MLLT4_ENST00000392112.1_Missense_Mutation_p.H40R|MLLT4_ENST00000344191.4_Missense_Mutation_p.H40R|MLLT4_ENST00000400822.3_Missense_Mutation_p.H40R|MLLT4_ENST00000392108.3_Missense_Mutation_p.H40R|MLLT4_ENST00000447894.2_Missense_Mutation_p.H40R	p.H40R			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	2	261	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	40			Ras-associating 1.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.119A>G		.	.	.	.	.	.	.	.	.	.	A	22.4	4.284417	0.80803	.	.	ENSG00000130396	ENST00000400825;ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400824;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.996	T	0.01824	-1.1266	10	0.59425	D	0.04	-5.0512	16.3648	0.83312	1.0:0.0:0.0:0.0	.	40;40;40	P55196-5;P55196-6;P55196-2	.;.;.	R	40	ENSP00000383626:H40R;ENSP00000341118:H40R;ENSP00000252692:H40R;ENSP00000375956:H40R;ENSP00000355771:H40R;ENSP00000375960:H40R;ENSP00000383625:H40R;ENSP00000383623:H40R;ENSP00000404595:H40R	ENSP00000345834:H40R	H	+	2	0	MLLT4	168008093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.739000	0.91574	2.263000	0.75096	0.533000	0.62120	CAT		0.338	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		57	122	0	0	0	1	0	57	122				
REEP2	51308	broad.mit.edu	37	5	137780952	137780952	+	Silent	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:137780952C>T	ENST00000254901.5	+	6	569	c.447C>T	c.(445-447)ttC>ttT	p.F149F	REEP2_ENST00000378339.2_Silent_p.F151F|REEP2_ENST00000506158.1_Silent_p.F111F	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	149					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCGCAGCTTCAGCATGCAGG	0.692																																						ENST00000378339.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(451-453)ttC>ttT		receptor accessory protein 2							50.0	58.0	56.0					5																	137780952		2203	4300	6503	SO:0001819	synonymous_variant	51308					integral to membrane		g.chr5:137780952C>T	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.447C>T	5.37:g.137780952C>T						REEP2_ENST00000506158.1_Silent_p.F111F|REEP2_ENST00000254901.5_Silent_p.F149F	p.F151F	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		6	645	+			149					Q53EM8|Q9NYF2	Silent	SNP	ENST00000254901.5	37	c.453C>T	CCDS4205.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621608	0.28889	.	.	ENSG00000132563	ENST00000512126	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	T	0.73628	0.3611	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72077	-0.4399	4	.	.	.	-11.0232	17.5609	0.87906	0.0:1.0:0.0:0.0	.	.	.	.	L	189	.	.	S	+	2	0	REEP2	137808851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.786000	0.69006	2.681000	0.91329	0.655000	0.94253	TCA		0.692	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606		23	46	0	0	0	1	0	23	46				
PRKCA	5578	broad.mit.edu	37	17	64783033	64783033	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:64783033G>C	ENST00000413366.3	+	15	1680	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	MIR634_ENST00000385208.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	552	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GTCTATCATGGAGCACAACGT	0.413																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1654-1656)Gag>Cag		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						126.0	111.0	116.0					17																	64783033		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64783033G>C		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1654G>C	17.37:g.64783033G>C	ENSP00000408695:p.Glu552Gln						p.E552Q	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		15	1680	+			552			Protein kinase.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.1654G>C	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821373	0.71028	.	.	ENSG00000154229	ENST00000413366	T	0.67698	-0.28	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	L	0.31294	0.92	0.80722	D	1	B	0.28552	0.215	B	0.34180	0.177	T	0.59144	-0.7509	10	0.45353	T	0.12	.	19.7888	0.96450	0.0:0.0:1.0:0.0	.	552	P17252	KPCA_HUMAN	Q	552	ENSP00000408695:E552Q	ENSP00000408695:E552Q	E	+	1	0	PRKCA	62213495	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.371000	0.97162	2.662000	0.90505	0.655000	0.94253	GAG		0.413	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			12	42	0	0	0	1	0	12	42				
KIAA0907	22889	broad.mit.edu	37	1	155887350	155887350	+	Silent	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:155887350C>T	ENST00000368321.3	-	11	1403	c.1380G>A	c.(1378-1380)caG>caA	p.Q460Q	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Silent_p.Q460Q	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	460							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ATCGTCTCTTCTGTGCCTGGG	0.537																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1378-1380)caG>caA		KIAA0907							99.0	108.0	105.0					1																	155887350		2203	4300	6503	SO:0001819	synonymous_variant	22889							g.chr1:155887350C>T	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1380G>A	1.37:g.155887350C>T						KIAA0907_ENST00000368321.3_Silent_p.Q460Q	p.Q460Q			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1405	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		460					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Silent	SNP	ENST00000368321.3	37	c.1380G>A	CCDS30885.1																																																																																				0.537	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		14	147	0	0	0	1	0	14	147				
SYNPO	11346	broad.mit.edu	37	5	150029326	150029326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:150029326G>T	ENST00000394243.1	+	3	2595	c.2221G>T	c.(2221-2223)Gag>Tag	p.E741*	SYNPO_ENST00000519664.1_Nonsense_Mutation_p.E497*|SYNPO_ENST00000522122.1_Nonsense_Mutation_p.E741*|SYNPO_ENST00000307662.4_Nonsense_Mutation_p.E497*	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	741					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATATGTCATCGAGTCTTCAAG	0.622																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2221-2223)Gag>Tag		synaptopodin							57.0	71.0	66.0					5																	150029326		2203	4300	6503	SO:0001587	stop_gained	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029326G>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2221G>T	5.37:g.150029326G>T	ENSP00000377789:p.Glu741*					SYNPO_ENST00000307662.4_Nonsense_Mutation_p.E497*|SYNPO_ENST00000522122.1_Nonsense_Mutation_p.E741*|SYNPO_ENST00000519664.1_Nonsense_Mutation_p.E497*	p.E741*	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2595	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	741					A5PKZ8|D3DQG8|O15271|Q9UPX1	Nonsense_Mutation	SNP	ENST00000394243.1	37	c.2221G>T	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	41	8.933599	0.99008	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	.	.	.	5.06	5.06	0.68205	.	0.000000	0.49305	D	0.000160	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-22.12	18.0401	0.89316	0.0:0.0:1.0:0.0	.	.	.	.	X	741;741;497;497	.	ENSP00000302139:E497X	E	+	1	0	SYNPO	150009519	1.000000	0.71417	0.996000	0.52242	0.756000	0.42949	7.912000	0.87465	2.363000	0.80096	0.462000	0.41574	GAG		0.622	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		28	50	1	0	1.39806e-14	1	1.57101e-14	28	50				
FLNC	2318	broad.mit.edu	37	7	128482910	128482910	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr7:128482910G>A	ENST00000325888.8	+	16	2713	c.2452G>A	c.(2452-2454)Gac>Aac	p.D818N	FLNC_ENST00000346177.6_Missense_Mutation_p.D818N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	818					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCTGACATTGACTTCGACAT	0.602																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(2452-2454)Gac>Aac		filamin C, gamma							59.0	65.0	63.0					7																	128482910		2155	4248	6403	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128482910G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2452G>A	7.37:g.128482910G>A	ENSP00000327145:p.Asp818Asn					FLNC_ENST00000346177.6_Missense_Mutation_p.D818N	p.D818N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			16	2713	+			818					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.2452G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	g	36	5.723453	0.96847	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.92299	-2.89;-3.01	5.7	4.83	0.62350	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051006	0.85682	D	0.000000	D	0.95069	0.8403	L	0.60455	1.87	0.54753	D	0.999982	D;D	0.76494	0.982;0.999	P;D	0.75484	0.836;0.986	D	0.95414	0.8501	10	0.66056	D	0.02	.	16.9377	0.86207	0.0:0.1279:0.8721:0.0	.	818;818	Q14315-2;Q14315	.;FLNC_HUMAN	N	818	ENSP00000327145:D818N;ENSP00000344002:D818N	ENSP00000327145:D818N	D	+	1	0	FLNC	128270146	1.000000	0.71417	0.970000	0.41538	0.956000	0.61745	6.632000	0.74281	1.427000	0.47276	-0.121000	0.15023	GAC		0.602	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			12	34	0	0	0	1	0	12	34				
TLN2	83660	broad.mit.edu	37	15	63073360	63073360	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr15:63073360G>A	ENST00000561311.1	+	43	5766	c.5536G>A	c.(5536-5538)Gaa>Aaa	p.E1846K	TLN2_ENST00000306829.6_Missense_Mutation_p.E1846K|TLN2_ENST00000472902.1_Missense_Mutation_p.E239K			Q9Y4G6	TLN2_HUMAN	talin 2	1846					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CACTCCTCCAGAACCAAAGGG	0.458																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5536-5538)Gaa>Aaa		talin 2							71.0	69.0	70.0					15																	63073360		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63073360G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5536G>A	15.37:g.63073360G>A	ENSP00000453508:p.Glu1846Lys					TLN2_ENST00000306829.6_Missense_Mutation_p.E1846K|TLN2_ENST00000472902.1_Missense_Mutation_p.E239K	p.E1846K			Q9Y4G6	TLN2_HUMAN			43	5766	+			1846					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5536G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095979	0.56075	.	.	ENSG00000171914	ENST00000306829	T	0.14266	2.52	5.7	5.7	0.88788	.	0.044527	0.85682	D	0.000000	T	0.20007	0.0481	M	0.78916	2.43	0.47737	D	0.999501	B;P	0.34892	0.38;0.474	B;B	0.31946	0.138;0.066	T	0.11036	-1.0604	10	0.11485	T	0.65	-23.939	19.8405	0.96681	0.0:0.0:1.0:0.0	.	890;1846	G1UI21;Q9Y4G6	.;TLN2_HUMAN	K	1846	ENSP00000303476:E1846K	ENSP00000303476:E1846K	E	+	1	0	TLN2	60860413	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.876000	0.87215	2.671000	0.90904	0.655000	0.94253	GAA		0.458	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			9	26	0	0	0	1	0	9	26				
ADAMTS9	56999	broad.mit.edu	37	3	64633635	64633635	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:64633635G>A	ENST00000498707.1	-	11	2033	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.T536M	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	564	Disintegrin.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCGCACTCCGTCCCATCGGC	0.517																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(1690-1692)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 9							135.0	122.0	126.0					3																	64633635		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64633635G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1691C>T	3.37:g.64633635G>A	ENSP00000418735:p.Thr564Met					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.T536M	p.T564M	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	11	2033	-		Lung NSC(201;0.00682)	564			Disintegrin.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.1691C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853751	0.91355	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.69040	-0.35;-0.37	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.89294	0.6674	H	0.97265	3.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;1.0;0.999	D	0.92242	0.5801	10	0.87932	D	0	.	20.2508	0.98407	0.0:0.0:1.0:0.0	.	536;564;564;564	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	M	536;564	ENSP00000295903:T536M;ENSP00000418735:T564M	ENSP00000295903:T536M	T	-	2	0	ADAMTS9	64608675	1.000000	0.71417	0.968000	0.41197	0.975000	0.68041	9.404000	0.97306	2.788000	0.95919	0.585000	0.79938	ACG		0.517	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			29	76	0	0	0	1	0	29	76				
TRIM68	55128	broad.mit.edu	37	11	4626317	4626317	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr11:4626317C>G	ENST00000300747.5	-	2	707	c.418G>C	c.(418-420)Gag>Cag	p.E140Q		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	140					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACCTTGTACTCCCAGGCAACA	0.547																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(418-420)Gag>Cag		tripartite motif containing 68							78.0	67.0	71.0					11																	4626317		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626317C>G	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.418G>C	11.37:g.4626317C>G	ENSP00000300747:p.Glu140Gln						p.E140Q	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	707	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	140					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.418G>C	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815806	0.32145	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	T;T	0.58060	0.36;0.36	4.67	4.67	0.58626	.	0.308172	0.23787	N	0.044578	T	0.50803	0.1637	M	0.74647	2.275	0.32858	D	0.507511	P;B	0.40398	0.716;0.151	B;B	0.32465	0.146;0.097	T	0.68610	-0.5363	10	0.44086	T	0.13	.	15.8499	0.78921	0.0:1.0:0.0:0.0	.	140;140	E9PR29;Q6AZZ1	.;TRI68_HUMAN	Q	140	ENSP00000300747:E140Q;ENSP00000436112:E140Q	ENSP00000300747:E140Q	E	-	1	0	TRIM68	4582893	0.971000	0.33674	0.991000	0.47740	0.426000	0.31534	1.898000	0.39809	2.521000	0.84997	0.549000	0.68633	GAG		0.547	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		16	24	0	0	0	1	0	16	24				
STX5	6811	broad.mit.edu	37	11	62592578	62592578	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr11:62592578C>A	ENST00000294179.3	-	8	762	c.609G>T	c.(607-609)caG>caT	p.Q203H	STX5_ENST00000377897.4_Missense_Mutation_p.Q203H|STX5_ENST00000541317.1_Missense_Mutation_p.Q107H|STX5_ENST00000394690.1_Missense_Mutation_p.Q149H	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	203					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GGCTCCTCTGCTGCTTCAGGT	0.582																																						ENST00000294179.3																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(607-609)caG>caT		syntaxin 5							45.0	53.0	50.0					11																	62592578		2201	4299	6500	SO:0001583	missense	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62592578C>A	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.609G>T	11.37:g.62592578C>A	ENSP00000294179:p.Gln203His					STX5_ENST00000541317.1_Missense_Mutation_p.Q107H|STX5_ENST00000394690.1_Missense_Mutation_p.Q149H|STX5_ENST00000377897.4_Missense_Mutation_p.Q203H	p.Q203H	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN			8	762	-			203					B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	c.609G>T	CCDS8038.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.151185|2.151185	0.38021|0.38021	.|.	.|.	ENSG00000162236|ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317|ENST00000431400	T;T;T;T|.	0.23950|.	1.88;1.88;1.88;1.88|.	5.41|5.41	3.55|3.55	0.40652|0.40652	t-SNARE (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43986|0.43986	0.1272|0.1272	L|L	0.33293|0.33293	1|1	0.58432|0.58432	D|D	0.999999|0.999999	B;B|.	0.20459|.	0.045;0.026|.	B;B|.	0.25884|.	0.064;0.017|.	T|T	0.19976|0.19976	-1.0289|-1.0289	10|5	0.30854|.	T|.	0.27|.	-17.6819|-17.6819	7.0993|7.0993	0.25327|0.25327	0.0:0.736:0.0:0.264|0.0:0.736:0.0:0.264	.|.	203;203|.	F8W8Q9;Q13190|.	.;STX5_HUMAN|.	H|I	203;203;149;107|58	ENSP00000367129:Q203H;ENSP00000294179:Q203H;ENSP00000378182:Q149H;ENSP00000441428:Q107H|.	ENSP00000294179:Q203H|.	Q|S	-|-	3|2	2|0	STX5|STX5	62349154|62349154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	1.033000|1.033000	0.30191|0.30191	0.859000|0.859000	0.35456|0.35456	0.655000|0.655000	0.94253|0.94253	CAG|AGC		0.582	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		12	46	1	0	6.40141e-05	1	6.77431e-05	12	46				
HFM1	164045	broad.mit.edu	37	1	91790285	91790285	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:91790285C>G	ENST00000370425.3	-	21	2472	c.2374G>C	c.(2374-2376)Gag>Cag	p.E792Q	HFM1_ENST00000294696.5_Missense_Mutation_p.E24Q|HFM1_ENST00000370424.3_Missense_Mutation_p.E471Q|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	792	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCACTGTCTCAAATGTAATA	0.313																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(2374-2376)Gag>Cag		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							44.0	48.0	47.0					1																	91790285		2201	4297	6498	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91790285C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2374G>C	1.37:g.91790285C>G	ENSP00000359454:p.Glu792Gln					HFM1_ENST00000370424.3_Missense_Mutation_p.E471Q|HFM1_ENST00000294696.5_Missense_Mutation_p.E24Q|HFM1_ENST00000462405.1_5'UTR	p.E792Q	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	21	2472	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	792			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2374G>C	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.15|16.15	3.042358|3.042358	0.55003|0.55003	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.61158|.	0.13;0.13;0.13|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Sec63 domain (2);|.	0.116593|.	0.64402|.	D|.	0.000019|.	T|T	0.55909|0.55909	0.1950|0.1950	M|M	0.65498|0.65498	2.005|2.005	0.37968|0.37968	D|D	0.933201|0.933201	B;P;B|.	0.37122|.	0.112;0.583;0.355|.	B;B;B|.	0.42882|.	0.064;0.401;0.213|.	T|T	0.59188|0.59188	-0.7501|-0.7501	10|5	0.56958|.	D|.	0.05|.	.|.	10.7629|10.7629	0.46274|0.46274	0.0:0.8528:0.0:0.1472|0.0:0.8528:0.0:0.1472	.|.	471;47;792|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	Q|F	792;24;471;476|47	ENSP00000359454:E792Q;ENSP00000294696:E24Q;ENSP00000359453:E471Q|.	ENSP00000294696:E24Q|.	E|L	-|-	1|3	0|2	HFM1|HFM1	91562873|91562873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.910000|4.910000	0.63321|0.63321	2.555000|2.555000	0.86185|0.86185	0.557000|0.557000	0.71058|0.71058	GAG|TTG		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		3	13	0	0	0	1	0	3	13				
ANKRD30B	374860	broad.mit.edu	37	18	14851603	14851603	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr18:14851603G>A	ENST00000358984.4	+	36	3483	c.3303G>A	c.(3301-3303)ctG>ctA	p.L1101L		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1101										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAGCCACACTGAAACATCAAC	0.338																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3301-3303)ctG>ctA		ankyrin repeat domain 30B							46.0	37.0	40.0					18																	14851603		692	1590	2282	SO:0001819	synonymous_variant	374860							g.chr18:14851603G>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3303G>A	18.37:g.14851603G>A							p.L1101L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			36	3483	+			1186					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.3303G>A	CCDS54182.1																																																																																				0.338	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		10	16	0	0	0	1	0	10	16				
C2CD4A	145741	broad.mit.edu	37	15	62360020	62360020	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr15:62360020G>A	ENST00000355522.5	+	2	349	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	70						nucleus (GO:0005634)											TTCTTGGGTCGAAGAAGCAGG	0.692																																						ENST00000355522.5																			0											c.(208-210)Gaa>Aaa		C2 calcium-dependent domain containing 4A							14.0	16.0	16.0					15																	62360020		2199	4295	6494	SO:0001583	missense	145741					nucleus		g.chr15:62360020G>A	AF504646	CCDS32258.1	15q22.2	2009-09-28	2009-09-28	2009-09-28		ENSG00000198535			33627	protein-coding gene	gene with protein product	"""nuclear localized factor 1"""	610343	"""family with sequence similarity 148, member A"""	FAM148A			Standard	NM_207322		Approved	NLF1	uc002ahf.4	Q8NCU7		ENST00000355522.5:c.208G>A	15.37:g.62360020G>A	ENSP00000347712:p.Glu70Lys						p.E70K	NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN			2	349	+			70						Missense_Mutation	SNP	ENST00000355522.5	37	c.208G>A	CCDS32258.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104028	0.37145	.	.	ENSG00000198535	ENST00000355522	T	0.30448	1.53	4.5	-0.177	0.13307	.	0.397240	0.21749	U	0.069715	T	0.16854	0.0405	L	0.34521	1.04	0.09310	N	1	B	0.16166	0.016	B	0.11329	0.006	T	0.17077	-1.0381	10	0.23302	T	0.38	.	4.3225	0.11023	0.0941:0.4221:0.3399:0.1438	.	70	Q8NCU7	C2C4A_HUMAN	K	70	ENSP00000347712:E70K	ENSP00000347712:E70K	E	+	1	0	C2CD4A	60147312	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.729000	0.04920	-0.196000	0.10366	0.563000	0.77884	GAA		0.692	C2CD4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416008.2	NM_207322		5	17	0	0	0	1	0	5	17				
WWTR1	25937	broad.mit.edu	37	3	149243913	149243913	+	Splice_Site	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:149243913C>T	ENST00000465804.1	-	7	1162		c.e7-1		WWTR1_ENST00000467467.1_Splice_Site|WWTR1_ENST00000360632.3_Splice_Site|RNU6-1098P_ENST00000516772.1_RNA	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1						cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATATGGCCCTCTGCAAAGCAA	0.458			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.e7-1		WW domain containing transcription regulator 1							85.0	78.0	80.0					3																	149243913		2203	4300	6503	SO:0001630	splice_region_variant	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149243913C>T	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.906-1G>A	3.37:g.149243913C>T						WWTR1_ENST00000467467.1_Splice_Site|WWTR1_ENST00000360632.3_Splice_Site		NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		7	1162	-								D3DNH7|Q8N3P2|Q9Y3W6	Splice_Site	SNP	ENST00000465804.1	37		CCDS3144.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676208	0.67928	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.846	0.96707	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WWTR1	150726603	1.000000	0.71417	0.855000	0.33649	0.731000	0.41821	7.481000	0.81124	2.683000	0.91414	0.563000	0.77884	.		0.458	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472	Intron	23	76	0	0	0	1	0	23	76				
CRNKL1	51340	broad.mit.edu	37	20	20031214	20031214	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:20031214C>T	ENST00000377340.2	-	3	618	c.587G>A	c.(586-588)aGa>aAa	p.R196K	C20orf26_ENST00000377306.1_5'Flank|C20orf26_ENST00000389656.3_5'Flank|C20orf26_ENST00000377309.2_5'Flank|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R35K|CRNKL1_ENST00000377327.4_Missense_Mutation_p.R184K|C20orf26_ENST00000245957.5_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	196					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTTAGCCTCTCTTAAGAGTTG	0.373																																						ENST00000377340.2																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.(586-588)aGa>aAa		crooked neck pre-mRNA splicing factor 1							150.0	143.0	145.0					20																	20031214		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20031214C>T	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.587G>A	20.37:g.20031214C>T	ENSP00000366557:p.Arg196Lys					CRNKL1_ENST00000377327.4_Missense_Mutation_p.R184K|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R35K	p.R196K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN			3	618	-			196					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.587G>A	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077638	0.94000	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.48522	1.49;1.49;0.81	5.42	5.42	0.78866	.	0.042704	0.85682	D	0.000000	T	0.56558	0.1993	M	0.67397	2.05	0.80722	D	1	P;P	0.48764	0.915;0.756	P;B	0.47251	0.542;0.218	T	0.57365	-0.7824	10	0.45353	T	0.12	-18.3666	19.4096	0.94665	0.0:1.0:0.0:0.0	.	184;196	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	K	184;196;35	ENSP00000366544:R184K;ENSP00000366557:R196K;ENSP00000440733:R35K	ENSP00000366544:R184K	R	-	2	0	CRNKL1	19979214	1.000000	0.71417	0.798000	0.32154	0.995000	0.86356	7.609000	0.82925	2.817000	0.96982	0.563000	0.77884	AGA		0.373	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			10	38	0	0	0	1	0	10	38				
CLCN6	1185	broad.mit.edu	37	1	11900211	11900211	+	Silent	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:11900211C>T	ENST00000346436.6	+	23	2593	c.2541C>T	c.(2539-2541)atC>atT	p.I847I	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.I825I|NPPA-AS1_ENST00000446542.1_RNA	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	847	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTGGGGATCATCACACGGC	0.582																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2539-2541)atC>atT		chloride channel, voltage-sensitive 6							113.0	107.0	110.0					1																	11900211		2203	4300	6503	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11900211C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2541C>T	1.37:g.11900211C>T						CLCN6_ENST00000376487.3_Silent_p.I825I|CLCN6_ENST00000312413.6_3'UTR	p.I847I	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	23	2593	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	847			CBS 2.		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.2541C>T	CCDS138.1																																																																																				0.582	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		21	24	0	0	0	1	0	21	24				
ST6GALNAC3	256435	broad.mit.edu	37	1	76779675	76779675	+	Missense_Mutation	SNP	G	G	C	rs115264699		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:76779675G>C	ENST00000328299.3	+	2	352	c.204G>C	c.(202-204)aaG>aaC	p.K68N	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	68					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TAAATGTGAAGACACAAGAGG	0.458																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(202-204)aaG>aaC		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							97.0	88.0	91.0					1																	76779675		2203	4299	6502	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76779675G>C		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.204G>C	1.37:g.76779675G>C	ENSP00000329214:p.Lys68Asn					ST6GALNAC3_ENST00000464140.1_3'UTR	p.K68N	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			2	352	+			68					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.204G>C	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463573	0.26248	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.32023	1.47	5.11	-0.249	0.13011	.	0.396687	0.29273	N	0.012631	T	0.08891	0.0220	L	0.40543	1.245	0.27392	N	0.955108	B;B	0.29301	0.089;0.241	B;B	0.35770	0.21;0.051	T	0.39210	-0.9625	10	0.17369	T	0.5	-19.5933	8.0359	0.30493	0.7147:0.0:0.2853:0.0	.	68;68	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	N	68;68;67	ENSP00000329214:K68N	ENSP00000329214:K68N	K	+	3	2	ST6GALNAC3	76552263	1.000000	0.71417	0.991000	0.47740	0.921000	0.55340	0.607000	0.24209	0.042000	0.15717	0.591000	0.81541	AAG		0.458	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		9	27	0	0	0	1	0	9	27				
IGSF10	285313	broad.mit.edu	37	3	151165650	151165650	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:151165650C>T	ENST00000282466.3	-	4	2118	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	707					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCCAACCTCAGCCTCCATC	0.483																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2119-2121)Gag>Aag		immunoglobulin superfamily, member 10							77.0	65.0	69.0					3																	151165650		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165650C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2119G>A	3.37:g.151165650C>T	ENSP00000282466:p.Glu707Lys						p.E707K	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2118	-			707					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2119G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508351	0.44660	.	.	ENSG00000152580	ENST00000282466	T	0.69175	-0.38	4.98	1.99	0.26369	.	0.567009	0.14638	N	0.307401	T	0.49660	0.1570	L	0.34521	1.04	0.09310	N	1	B	0.21381	0.055	B	0.12837	0.008	T	0.25882	-1.0119	10	0.10902	T	0.67	.	10.4513	0.44524	0.0:0.5593:0.369:0.0717	.	707	Q6WRI0	IGS10_HUMAN	K	707	ENSP00000282466:E707K	ENSP00000282466:E707K	E	-	1	0	IGSF10	152648340	0.000000	0.05858	0.045000	0.18777	0.054000	0.15201	-0.064000	0.11636	0.500000	0.27991	0.591000	0.81541	GAG		0.483	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		18	78	0	0	0	1	0	18	78				
OR2M5	127059	broad.mit.edu	37	1	248308947	248308947	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:248308947C>G	ENST00000366476.1	+	1	498	c.498C>G	c.(496-498)ttC>ttG	p.F166L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATTTTCCTTCTCCTACTGTG	0.443																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(496-498)ttC>ttG		olfactory receptor, family 2, subfamily M, member 5							275.0	260.0	265.0					1																	248308947		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308947C>G		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.498C>G	1.37:g.248308947C>G	ENSP00000355432:p.Phe166Leu						p.F166L	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	498	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		166						Missense_Mutation	SNP	ENST00000366476.1	37	c.498C>G	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	15.04	2.714728	0.48622	.	.	ENSG00000162727	ENST00000366476	T	0.00018	9.07	2.86	-0.765	0.11023	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33272	U	0.005091	T	0.00039	0.0001	N	0.02865	-0.47	0.09310	N	1	B	0.27316	0.175	B	0.33339	0.162	T	0.05194	-1.0900	10	0.30078	T	0.28	.	4.6886	0.12769	0.0:0.2755:0.3399:0.3847	.	166	A3KFT3	OR2M5_HUMAN	L	166	ENSP00000355432:F166L	ENSP00000355432:F166L	F	+	3	2	OR2M5	246375570	0.000000	0.05858	0.010000	0.14722	0.921000	0.55340	-1.470000	0.02346	0.054000	0.16065	0.492000	0.49549	TTC		0.443	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		10	164	0	0	0	1	0	10	164				
MUC16	94025	broad.mit.edu	37	19	9010648	9010648	+	Splice_Site	SNP	T	T	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:9010648T>C	ENST00000397910.4	-	38	39216	c.39013A>G	c.(39013-39015)Aca>Gca	p.T13005A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13007					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTACTTACTTGTGGGGCTG	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.e38+1		mucin 16, cell surface associated							80.0	73.0	75.0					19																	9010648		1917	4128	6045	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9010648T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39013+1A>G	19.37:g.9010648T>C							p.T13005_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			38	39216	-			13007					Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37	c.39013_splice	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	0.909	-0.719737	0.03182	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.01725	4.67	1.16	-2.32	0.06745	.	.	.	.	.	T	0.00440	0.0014	N	0.00197	-1.87	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.45527	-0.9255	7	.	.	.	.	2.0134	0.03493	0.2938:0.4676:0.0:0.2386	.	13005	B5ME49	.	A	13005;158	ENSP00000381008:T13005A	.	T	-	1	0	MUC16	8871648	0.021000	0.18746	0.045000	0.18777	0.002000	0.02628	0.101000	0.15251	-0.515000	0.06479	-3.395000	0.00039	ACA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Missense_Mutation	3	26	0	0	0	1	0	3	26				
ANO7	50636	broad.mit.edu	37	2	242163156	242163156	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr2:242163156G>A	ENST00000274979.8	+	23	2757	c.2654G>A	c.(2653-2655)cGg>cAg	p.R885Q		NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	885					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AAAGTGAAGCGGGAGTACTAC	0.592																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(2653-2655)cGg>cAg		anoctamin 7							84.0	78.0	80.0					2																	242163156		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242163156G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2654G>A	2.37:g.242163156G>A	ENSP00000274979:p.Arg885Gln						p.R885Q	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			23	2757	+			885					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.2654G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591602	0.86953	.	.	ENSG00000146205	ENST00000274979	T	0.70986	-0.53	3.85	2.68	0.31781	.	0.092622	0.41396	U	0.000898	T	0.79287	0.4420	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	P	0.60173	0.87	T	0.81540	-0.0886	10	0.56958	D	0.05	.	11.9146	0.52757	0.1085:0.0:0.8915:0.0	.	885	Q6IWH7	ANO7_HUMAN	Q	885	ENSP00000274979:R885Q	ENSP00000274979:R885Q	R	+	2	0	ANO7	241811829	0.973000	0.33851	0.307000	0.25127	0.990000	0.78478	3.094000	0.50227	1.710000	0.51325	0.467000	0.42956	CGG		0.592	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		11	22	0	0	0	1	0	11	22				
STAT3	6774	broad.mit.edu	37	17	40476788	40476788	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:40476788G>T	ENST00000264657.5	-	17	1853	c.1541C>A	c.(1540-1542)tCc>tAc	p.S514Y	STAT3_ENST00000389272.3_Missense_Mutation_p.S416Y|STAT3_ENST00000585517.1_Missense_Mutation_p.S514Y|STAT3_ENST00000588969.1_Missense_Mutation_p.S514Y|STAT3_ENST00000404395.3_Missense_Mutation_p.S514Y	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	514					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTGGTGGTGGAGGAGAACTG	0.542									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1540-1542)tCc>tAc		signal transducer and activator of transcription 3 (acute-phase response factor)							84.0	79.0	80.0					17																	40476788		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40476788G>T	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1541C>A	17.37:g.40476788G>T	ENSP00000264657:p.Ser514Tyr					STAT3_ENST00000389272.3_Missense_Mutation_p.S416Y|STAT3_ENST00000585517.1_Missense_Mutation_p.S514Y|STAT3_ENST00000588969.1_Missense_Mutation_p.S514Y|STAT3_ENST00000404395.3_Missense_Mutation_p.S514Y	p.S514Y	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	17	1853	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	514					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1541C>A	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144428	0.77888	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.91068	-2.78;-2.78;-2.78	5.63	5.63	0.86233	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	M	0.75884	2.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.995;0.995	D	0.95395	0.8485	10	0.87932	D	0	-3.2884	19.679	0.95950	0.0:0.0:1.0:0.0	.	514;514;514	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	Y	514;416;514	ENSP00000264657:S514Y;ENSP00000373923:S416Y;ENSP00000384943:S514Y	ENSP00000264657:S514Y	S	-	2	0	STAT3	37730314	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.912000	0.87465	2.651000	0.90000	0.655000	0.94253	TCC		0.542	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		13	38	1	0	9.31168e-06	1	1.00492e-05	13	38				
HCG17	414778	broad.mit.edu	37	6	30231273	30231273	+	lincRNA	SNP	A	A	G	rs3130401	byFrequency	TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr6:30231273A>G	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		TGTATTTTCTATCTTTTCCCC	0.418													A|||	431	0.0860623	0.1135	0.0663	5008	,	,		19614	0.0496		0.1223	False		,,,				2504	0.0634					ENST00000453558.1																			0																																																			414778							g.chr6:30231273A>G	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30231273A>G						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	SNP	ENST00000453558.1	37																																																																																						0.418	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		3	30	0	0	0	1	0	3	30				
APLP2	334	broad.mit.edu	37	11	129999057	129999057	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr11:129999057G>T	ENST00000263574.5	+	10	1483	c.1411G>T	c.(1411-1413)Gct>Tct	p.A471S	APLP2_ENST00000543137.1_Missense_Mutation_p.A378S|APLP2_ENST00000338167.5_Missense_Mutation_p.A471S|APLP2_ENST00000539648.1_Missense_Mutation_p.A259S|APLP2_ENST00000278756.7_Missense_Mutation_p.A481S|APLP2_ENST00000345598.5_Missense_Mutation_p.A242S|APLP2_ENST00000528499.1_Missense_Mutation_p.A415S	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	471					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCGTCGGATGGCTCTGGAGAA	0.592																																						ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1411-1413)Gct>Tct		amyloid beta (A4) precursor-like protein 2							100.0	90.0	93.0					11																	129999057		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129999057G>T	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1411G>T	11.37:g.129999057G>T	ENSP00000263574:p.Ala471Ser					APLP2_ENST00000539648.1_Missense_Mutation_p.A259S|APLP2_ENST00000543137.1_Missense_Mutation_p.A378S|APLP2_ENST00000338167.5_Missense_Mutation_p.A471S|APLP2_ENST00000345598.5_Missense_Mutation_p.A242S|APLP2_ENST00000278756.7_Missense_Mutation_p.A481S|APLP2_ENST00000528499.1_Missense_Mutation_p.A415S	p.A471S	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	10	1483	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	471					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1411G>T	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508932	0.96386	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.71	5.71	0.89125	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.85682	D	0.000000	D	0.82646	0.5082	M	0.86740	2.835	0.80722	D	1	D;D;D;P;D;D;D	0.69078	0.978;0.997;0.967;0.883;0.992;0.982;0.984	P;D;D;D;D;D;D	0.77557	0.887;0.99;0.924;0.915;0.955;0.924;0.94	D	0.85137	0.0978	10	0.87932	D	0	-24.8187	18.8518	0.92235	0.0:0.0:1.0:0.0	.	259;471;415;242;409;415;471	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	S	415;259;471;242;471;481;378	ENSP00000435914:A415S;ENSP00000443728:A259S;ENSP00000263574:A471S;ENSP00000263575:A242S;ENSP00000345444:A471S;ENSP00000278756:A481S;ENSP00000444122:A378S	ENSP00000263574:A471S	A	+	1	0	APLP2	129504267	1.000000	0.71417	0.952000	0.39060	0.951000	0.60555	9.476000	0.97823	2.694000	0.91930	0.655000	0.94253	GCT		0.592	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		28	36	1	0	6.32553e-13	1	6.96447e-13	28	36				
OPN5	221391	broad.mit.edu	37	6	47754305	47754305	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr6:47754305A>G	ENST00000371211.2	+	2	213	c.185A>G	c.(184-186)aAg>aGg	p.K62R	OPN5_ENST00000489301.2_Missense_Mutation_p.K62R|OPN5_ENST00000393699.2_Missense_Mutation_p.K62R	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	62					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCTAGACGAAAGAAGAAGCTG	0.373																																					Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(184-186)aAg>aGg		opsin 5							129.0	121.0	123.0					6																	47754305		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47754305A>G	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.185A>G	6.37:g.47754305A>G	ENSP00000360255:p.Lys62Arg					OPN5_ENST00000393699.2_Missense_Mutation_p.K62R|OPN5_ENST00000371211.2_Missense_Mutation_p.K62R	p.K62R			Q6U736	OPN5_HUMAN			2	270	+			62					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.185A>G	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626417	0.28978	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.37411	1.2;1.2;1.2	5.97	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	L	0.28649	0.875	0.42160	D	0.991593	B	0.23185	0.081	B	0.26094	0.066	T	0.03728	-1.1009	10	0.49607	T	0.09	.	12.1669	0.54135	0.9334:0.0:0.0666:0.0	.	62	Q6U736	OPN5_HUMAN	R	62	ENSP00000426991:K62R;ENSP00000360255:K62R;ENSP00000377302:K62R	ENSP00000360255:K62R	K	+	2	0	OPN5	47862264	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.557000	0.90700	1.075000	0.40932	0.533000	0.62120	AAG		0.373	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		3	28	0	0	0	1	0	3	28				
RGPD3	653489	broad.mit.edu	37	2	107041559	107041559	+	Missense_Mutation	SNP	C	C	T	rs201811240		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr2:107041559C>T	ENST00000409886.3	-	20	2951	c.2864G>A	c.(2863-2865)cGg>cAg	p.R955Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.R955Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	955					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCCCTTCTTCCGGCCACTAAT	0.403																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2863-2865)cGg>cAg		RANBP2-like and GRIP domain containing 3		T	GLN/ARG	3,1381		0,3,689	172.0	137.0	148.0		2864	2.3	0.1	2		148	0,3180		0,0,1590	no	missense	RGPD3	NM_001144013.1	43	0,3,2279	TT,TC,CC		0.0,0.2168,0.0657	benign	955/1759	107041559	3,4561	692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107041559C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2864G>A	2.37:g.107041559C>T	ENSP00000386588:p.Arg955Gln					RGPD3_ENST00000304514.7_Missense_Mutation_p.R955Q	p.R955Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	2951	-			955					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2864G>A	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.515496	0.00010	0.002168	0.0	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.36340	1.26;1.26	2.33	2.33	0.28932	.	.	.	.	.	T	0.06735	0.0172	N	0.00197	-1.87	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.33214	-0.9877	9	0.07990	T	0.79	-1.8592	2.2368	0.04010	0.2458:0.1545:0.0:0.5997	.	955	A6NKT7	RGPD3_HUMAN	Q	955;713;955	ENSP00000386588:R955Q;ENSP00000303659:R955Q	ENSP00000303659:R955Q	R	-	2	0	RGPD3	106407991	1.000000	0.71417	0.068000	0.19968	0.006000	0.05464	1.676000	0.37565	0.144000	0.18951	-1.758000	0.00672	CGG		0.403	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		10	222	0	0	0	1	0	10	222				
ABCA1	19	broad.mit.edu	37	9	107562201	107562201	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr9:107562201G>A	ENST00000374736.3	-	36	5236	c.4842C>T	c.(4840-4842)ctC>ctT	p.L1614L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1614					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)	GGTTGGCCCGGAGAATGGCAT	0.473																																						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.(4840-4842)ctC>ctT		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						136.0	123.0	127.0					9																	107562201		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:107562201G>A	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.4842C>T	9.37:g.107562201G>A							p.L1614L	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	36	5236	-			1614					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.4842C>T	CCDS6762.1																																																																																				0.473	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		24	68	0	0	0	1	0	24	68				
PRKCE	5581	broad.mit.edu	37	2	46070195	46070195	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr2:46070195G>A	ENST00000306156.3	+	2	732	c.405G>A	c.(403-405)tcG>tcA	p.S135S	PRKCE_ENST00000467135.1_3'UTR	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	135					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	CAGGGTCGTCGGGTGAAGGTA	0.483																																						ENST00000306156.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(403-405)tcG>tcA		protein kinase C, epsilon							333.0	303.0	313.0					2																	46070195		2203	4300	6503	SO:0001819	synonymous_variant	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46070195G>A		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.405G>A	2.37:g.46070195G>A						PRKCE_ENST00000467135.1_3'UTR	p.S135S	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		2	732	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	135					B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Silent	SNP	ENST00000306156.3	37	c.405G>A	CCDS1824.1																																																																																				0.483	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			46	106	0	0	0	1	0	46	106				
LRRC37B	114659	broad.mit.edu	37	17	30348398	30348398	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:30348398C>T	ENST00000341671.7	+	1	238	c.233C>T	c.(232-234)tCt>tTt	p.S78F	LRRC37B_ENST00000327564.7_Missense_Mutation_p.S105F|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S90F|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S78F|LRRC37B_ENST00000543378.2_Intron	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	78						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTGGGGCCCTCTGCTTCTTCG	0.602																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(313-315)tCt>tTt		leucine rich repeat containing 37B							49.0	58.0	55.0					17																	30348398		2203	4300	6503	SO:0001583	missense	114659					integral to membrane		g.chr17:30348398C>T	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.233C>T	17.37:g.30348398C>T	ENSP00000340519:p.Ser78Phe					LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S78F|LRRC37B_ENST00000341671.7_Missense_Mutation_p.S78F|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S90F	p.S105F			Q96QE4	LR37B_HUMAN			1	375	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	78					Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.314C>T	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	13.46	2.242552	0.39598	.	.	ENSG00000185158	ENST00000327564;ENST00000394713;ENST00000341671	T;T;T	0.77489	-1.1;0.05;-1.06	2.11	2.11	0.27256	.	.	.	.	.	D	0.83308	0.5226	L	0.59436	1.845	0.09310	N	1	D;D	0.65815	0.985;0.995	P;D	0.75484	0.562;0.986	T	0.69551	-0.5115	9	0.87932	D	0	.	7.7934	0.29133	0.0:1.0:0.0:0.0	.	78;78	Q17RC9;Q96QE4	.;LR37B_HUMAN	F	105;78;78	ENSP00000332536:S105F;ENSP00000378202:S78F;ENSP00000340519:S78F	ENSP00000332536:S105F	S	+	2	0	LRRC37B	27372511	0.000000	0.05858	0.003000	0.11579	0.177000	0.22998	-0.060000	0.11712	1.504000	0.48704	0.299000	0.19835	TCT		0.602	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		12	107	0	0	0	1	0	12	107				
WDR55	54853	broad.mit.edu	37	5	140044531	140044531	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:140044531G>A	ENST00000358337.5	+	1	271	c.34G>A	c.(34-36)Gat>Aat	p.D12N		NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	12					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTGAGGATGGGAGCGA	0.667																																						ENST00000358337.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9						c.(34-36)Gat>Aat		WD repeat domain 55							31.0	27.0	28.0					5																	140044531		2201	4299	6500	SO:0001583	missense	54853				rRNA processing	cytoplasm|nucleolus		g.chr5:140044531G>A	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.34G>A	5.37:g.140044531G>A	ENSP00000351100:p.Asp12Asn						p.D12N	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	271	+			12					Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	c.34G>A	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393929	0.62066	.	.	ENSG00000120314	ENST00000358337	T	0.30981	1.51	4.93	4.06	0.47325	.	1.666860	0.04137	U	0.318952	T	0.30792	0.0776	L	0.43152	1.355	0.09310	N	0.999993	B	0.12013	0.005	B	0.14023	0.01	T	0.30650	-0.9971	10	0.17369	T	0.5	-8.5137	12.4083	0.55453	0.0:0.1939:0.8061:0.0	.	12	Q9H6Y2	WDR55_HUMAN	N	12	ENSP00000351100:D12N	ENSP00000351100:D12N	D	+	1	0	WDR55	140024715	0.008000	0.16893	0.009000	0.14445	0.014000	0.08584	1.649000	0.37281	1.427000	0.47276	0.650000	0.86243	GAT		0.667	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		3	18	0	0	0	1	0	3	18				
CHAD	1101	broad.mit.edu	37	17	48545767	48545767	+	Silent	SNP	A	A	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:48545767A>C	ENST00000508540.1	-	1	560	c.408T>G	c.(406-408)acT>acG	p.T136T	ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Silent_p.T136T|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	136					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGGGCAGCTCAGTGACCTTGT	0.607																																						ENST00000508540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15						c.(406-408)acT>acG		chondroadherin							55.0	48.0	50.0					17																	48545767		2203	4300	6503	SO:0001819	synonymous_variant	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48545767A>C	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.408T>G	17.37:g.48545767A>C						ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Silent_p.T136T|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron	p.T136T	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	560	-	Breast(11;1.93e-18)		136					A8K812|Q6GTU0|Q96RJ5	Silent	SNP	ENST00000508540.1	37	c.408T>G	CCDS11568.1																																																																																				0.607	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		23	85	0	0	0	1	0	23	85				
NHP2L1	4809	broad.mit.edu	37	22	42070976	42070976	+	Silent	SNP	G	G	T	rs11558910		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr22:42070976G>T	ENST00000401959.1	-	4	664	c.348C>A	c.(346-348)atC>atA	p.I116I	NHP2L1_ENST00000402458.1_Silent_p.I120I|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Silent_p.I116I|NHP2L1_ENST00000355257.3_Silent_p.I116I	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	116					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GAATGGATTGGATCTGCTGTT	0.557																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(346-348)atC>atA		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							83.0	78.0	80.0					22																	42070976		2203	4300	6503	SO:0001819	synonymous_variant	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42070976G>T		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.348C>A	22.37:g.42070976G>T						NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Silent_p.I116I|NHP2L1_ENST00000402458.1_Silent_p.I120I|NHP2L1_ENST00000355257.3_Silent_p.I116I	p.I116I	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			4	664	-			116						Silent	SNP	ENST00000401959.1	37	c.348C>A	CCDS14022.1																																																																																				0.557	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		5	61	1	0	0.184627	1	0.188078	5	61				
LRRC37B	114659	broad.mit.edu	37	17	30348998	30348998	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:30348998C>G	ENST00000341671.7	+	1	838	c.833C>G	c.(832-834)tCt>tGt	p.S278C	LRRC37B_ENST00000327564.7_Missense_Mutation_p.S305C|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S290C|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S278C|LRRC37B_ENST00000543378.2_Missense_Mutation_p.S196C	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	278						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATCCAGTCCTCTTCACTCCAG	0.552																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(913-915)tCt>tGt		leucine rich repeat containing 37B							59.0	72.0	68.0					17																	30348998		2200	4291	6491	SO:0001583	missense	114659					integral to membrane		g.chr17:30348998C>G	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.833C>G	17.37:g.30348998C>G	ENSP00000340519:p.Ser278Cys					LRRC37B_ENST00000543378.2_Missense_Mutation_p.S196C|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S278C|LRRC37B_ENST00000341671.7_Missense_Mutation_p.S278C|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S290C	p.S305C			Q96QE4	LR37B_HUMAN			1	975	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	278					Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.914C>G	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	11.75	1.731007	0.30684	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.71579	-0.53;-0.51;0.61;-0.58	1.76	-0.436	0.12275	.	.	.	.	.	T	0.76062	0.3935	M	0.64567	1.98	0.09310	N	1	D;D	0.76494	0.992;0.999	B;D	0.76071	0.354;0.987	T	0.61931	-0.6961	9	0.39692	T	0.17	.	4.1071	0.10041	0.0:0.5813:0.0:0.4187	.	278;278	Q17RC9;Q96QE4	.;LR37B_HUMAN	C	196;305;278;278	ENSP00000443345:S196C;ENSP00000332536:S305C;ENSP00000378202:S278C;ENSP00000340519:S278C	ENSP00000332536:S305C	S	+	2	0	LRRC37B	27373111	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-0.159000	0.10056	-0.076000	0.12775	0.186000	0.17326	TCT		0.552	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		9	123	0	0	0	1	0	9	123				
ATRNL1	26033	broad.mit.edu	37	10	117045776	117045776	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr10:117045776G>C	ENST00000355044.3	+	15	2410	c.2284G>C	c.(2284-2286)Gtc>Ctc	p.V762L		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	762	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGTCTTAGAGTCAATTCCAG	0.328																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2284-2286)Gtc>Ctc		attractin-like 1							86.0	90.0	89.0					10																	117045776		2203	4297	6500	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117045776G>C	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2284G>C	10.37:g.117045776G>C	ENSP00000347152:p.Val762Leu						p.V762L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	15	2410	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	762			C-type lectin.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2284G>C	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322552	0.23994	.	.	ENSG00000107518	ENST00000355044	T	0.16324	2.35	5.47	-3.14	0.05250	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.146846	0.64402	N	0.000013	T	0.03739	0.0106	N	0.01624	-0.795	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42275	-0.9461	10	0.10636	T	0.68	-4.1845	6.0253	0.19652	0.4614:0.2743:0.2643:0.0	.	762	Q5VV63	ATRN1_HUMAN	L	762	ENSP00000347152:V762L	ENSP00000347152:V762L	V	+	1	0	ATRNL1	117035766	1.000000	0.71417	0.904000	0.35570	0.655000	0.38815	2.733000	0.47360	-0.544000	0.06232	-1.346000	0.01242	GTC		0.328	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		7	21	0	0	0	1	0	7	21				
FAM135B	51059	broad.mit.edu	37	8	139190891	139190891	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr8:139190891C>A	ENST00000395297.1	-	10	1086	c.916G>T	c.(916-918)Gat>Tat	p.D306Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	306								p.D306N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGCCAGATCCTTGCTTATC	0.512										HNSCC(54;0.14)																												ENST00000395297.1																			2	Substitution - Missense(2)	p.D306N(2)	lung(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(916-918)Gat>Tat		family with sequence similarity 135, member B							144.0	141.0	142.0					8																	139190891		2046	4196	6242	SO:0001583	missense	51059							g.chr8:139190891C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.916G>T	8.37:g.139190891C>A	ENSP00000378710:p.Asp306Tyr	HNSCC(54;0.14)					p.D306Y	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		10	1086	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		306					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.916G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852137	0.71719	.	.	ENSG00000147724	ENST00000395297	T	0.79554	-1.28	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.88340	0.6410	M	0.61703	1.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.89196	0.3554	10	0.87932	D	0	-21.5161	16.7244	0.85417	0.0:1.0:0.0:0.0	.	306	Q49AJ0	F135B_HUMAN	Y	306	ENSP00000378710:D306Y	ENSP00000276737:D306Y	D	-	1	0	FAM135B	139260073	1.000000	0.71417	0.998000	0.56505	0.616000	0.37450	4.060000	0.57477	2.616000	0.88540	0.561000	0.74099	GAT		0.512	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		23	38	1	0	3.5997e-14	1	4.00375e-14	23	38				
SERPINF1	5176	broad.mit.edu	37	17	1673237	1673237	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:1673237C>G	ENST00000254722.4	+	3	339	c.176C>G	c.(175-177)tCc>tGc	p.S59C	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	59					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GCGGCTGTCTCCAACTTCGGC	0.647																																						ENST00000254722.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						c.(175-177)tCc>tGc		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1							95.0	90.0	92.0					17																	1673237		2203	4300	6503	SO:0001583	missense	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1673237C>G	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.176C>G	17.37:g.1673237C>G	ENSP00000254722:p.Ser59Cys					SERPINF1_ENST00000571870.1_3'UTR	p.S59C	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN			3	339	+			59					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	37	c.176C>G	CCDS11012.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093374	0.76756	.	.	ENSG00000132386	ENST00000254722	D	0.84873	-1.91	5.67	5.67	0.87782	Serpin domain (2);	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91769	0.5426	10	0.66056	D	0.02	.	19.8439	0.96702	0.0:1.0:0.0:0.0	.	59	P36955	PEDF_HUMAN	C	59	ENSP00000254722:S59C	ENSP00000254722:S59C	S	+	2	0	SERPINF1	1619987	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	6.360000	0.73064	2.690000	0.91761	0.650000	0.86243	TCC		0.647	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		42	84	0	0	0	1	0	42	84				
GDF2	2658	broad.mit.edu	37	10	48416492	48416492	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr10:48416492G>A	ENST00000249598.1	-	1	361	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	68			R -> L (in HHT5; impaired protein processing and function). {ECO:0000269|PubMed:23972370}.		activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R68C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TTAAGGCTGCGCAGGAAATCC	0.577																																						ENST00000249598.1																			1	Substitution - Missense(1)	p.R68C(1)	endometrium(1)	breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						c.(202-204)Cgc>Tgc		growth differentiation factor 2							78.0	73.0	75.0					10																	48416492		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48416492G>A	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.202C>T	10.37:g.48416492G>A	ENSP00000249598:p.Arg68Cys						p.R68C	NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN			1	361	-			68					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.202C>T	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272845	0.59649	.	.	ENSG00000128802	ENST00000249598	T	0.67865	-0.29	5.22	5.22	0.72569	Transforming growth factor-beta, N-terminal (1);	0.048640	0.85682	D	0.000000	T	0.77831	0.4189	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.79107	-0.1939	10	0.62326	D	0.03	.	7.3187	0.26515	0.0861:0.0:0.7337:0.1802	.	68	Q9UK05	GDF2_HUMAN	C	68	ENSP00000249598:R68C	ENSP00000249598:R68C	R	-	1	0	GDF2	48036498	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	3.013000	0.49582	2.595000	0.87683	0.655000	0.94253	CGC		0.577	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		17	52	0	0	0	1	0	17	52				
SLC17A8	246213	broad.mit.edu	37	12	100797904	100797904	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr12:100797904A>C	ENST00000323346.5	+	9	1455	c.1142A>C	c.(1141-1143)cAa>cCa	p.Q381P	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Missense_Mutation_p.Q331P	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	381					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AGAAGCAGACAAATTTTAACC	0.413																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1141-1143)cAa>cCa		solute carrier family 17 (vesicular glutamate transporter), member 8							109.0	105.0	106.0					12																	100797904		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100797904A>C	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1142A>C	12.37:g.100797904A>C	ENSP00000316909:p.Gln381Pro					SLC17A8_ENST00000392989.3_Missense_Mutation_p.Q331P	p.Q381P	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			9	1455	+			381					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1142A>C	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966665	0.53507	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.69306	0.04;-0.39	5.63	4.48	0.54585	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.236143	0.49305	D	0.000144	T	0.68063	0.2960	L	0.53249	1.67	0.35094	D	0.764597	B;B	0.29341	0.242;0.147	B;B	0.41440	0.357;0.128	T	0.74100	-0.3774	10	0.51188	T	0.08	.	11.3629	0.49655	0.929:0.0:0.071:0.0	.	381;331	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	P	381;331	ENSP00000316909:Q381P;ENSP00000376715:Q331P	ENSP00000316909:Q381P	Q	+	2	0	SLC17A8	99322035	1.000000	0.71417	0.967000	0.41034	0.982000	0.71751	7.465000	0.80898	0.961000	0.38030	0.455000	0.32223	CAA		0.413	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		14	21	0	0	0	1	0	14	21				
INPP4B	8821	broad.mit.edu	37	4	143094792	143094792	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr4:143094792G>A	ENST00000513000.1	-	17	1785	c.1352C>T	c.(1351-1353)tCa>tTa	p.S451L	INPP4B_ENST00000262992.4_Missense_Mutation_p.S451L|INPP4B_ENST00000508116.1_Missense_Mutation_p.S451L|INPP4B_ENST00000509777.1_Missense_Mutation_p.S451L|INPP4B_ENST00000308502.4_Missense_Mutation_p.S451L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	451					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TACTTTTTCTGAAAGCATCTT	0.388																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1351-1353)tCa>tTa		inositol polyphosphate-4-phosphatase, type II, 105kDa							136.0	134.0	135.0					4																	143094792		2203	4299	6502	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143094792G>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1352C>T	4.37:g.143094792G>A	ENSP00000425487:p.Ser451Leu					INPP4B_ENST00000508116.1_Missense_Mutation_p.S451L|INPP4B_ENST00000509777.1_Missense_Mutation_p.S451L|INPP4B_ENST00000308502.4_Missense_Mutation_p.S451L|INPP4B_ENST00000262992.4_Missense_Mutation_p.S451L	p.S451L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			17	1785	-	all_hematologic(180;0.158)		451					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.1352C>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194243	0.78902	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.71	4.87	0.63330	.	0.070116	0.64402	D	0.000014	T	0.40347	0.1113	L	0.59436	1.845	0.51482	D	0.999929	D;D	0.67145	0.996;0.963	D;P	0.77557	0.99;0.757	T	0.19647	-1.0299	10	0.12766	T	0.61	.	16.5073	0.84276	0.0:0.0:0.8681:0.1319	.	322;451	B7Z6T2;O15327	.;INP4B_HUMAN	L	451;451;451;322;451;451;266;266;451;322	ENSP00000425487:S451L;ENSP00000262992:S451L;ENSP00000308441:S451L;ENSP00000423954:S451L;ENSP00000422793:S451L;ENSP00000426207:S266L;ENSP00000427250:S451L;ENSP00000421065:S322L	ENSP00000262992:S451L	S	-	2	0	INPP4B	143314242	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.699000	0.91316	1.546000	0.49388	-0.175000	0.13238	TCA		0.388	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		15	42	0	0	0	1	0	15	42				
HSP90B1	7184	broad.mit.edu	37	12	104337073	104337073	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr12:104337073G>T	ENST00000299767.5	+	13	2048	c.1866G>T	c.(1864-1866)atG>atT	p.M622I		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	622					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TGAATTGGATGAAAGATAAAG	0.363																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(1864-1866)atG>atT		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						58.0	62.0	61.0					12																	104337073		2202	4300	6502	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104337073G>T	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1866G>T	12.37:g.104337073G>T	ENSP00000299767:p.Met622Ile						p.M622I	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			13	2048	+			622					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1866G>T	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322377	0.41096	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.39997	1.05	5.85	5.85	0.93711	.	0.038047	0.85682	D	0.000000	T	0.29749	0.0743	N	0.11064	0.09	0.80722	D	1	B	0.22146	0.065	B	0.23716	0.048	T	0.06826	-1.0805	10	0.25751	T	0.34	.	20.542	0.99273	0.0:0.0:1.0:0.0	.	622	P14625	ENPL_HUMAN	I	622;372	ENSP00000299767:M622I	ENSP00000299767:M622I	M	+	3	0	HSP90B1	102861203	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.576000	0.67437	2.932000	0.99384	0.643000	0.83706	ATG		0.363	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		4	29	1	0	0.014758	1	0.0151757	4	29				
PROS1	5627	broad.mit.edu	37	3	93595847	93595847	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:93595847C>T	ENST00000394236.3	-	14	2149	c.1833G>A	c.(1831-1833)atG>atA	p.M611I	PROS1_ENST00000407433.1_Missense_Mutation_p.M480I	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	611	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		M -> K (in THPH5). {ECO:0000269|PubMed:15712227}.|M -> T (in THPH5). {ECO:0000269|PubMed:10706858, ECO:0000269|PubMed:7545463, ECO:0000269|PubMed:8781426}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CTTTTGCTTTCATTGCTTTGT	0.378																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1831-1833)atG>atA		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						130.0	123.0	126.0					3																	93595847		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93595847C>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1833G>A	3.37:g.93595847C>T	ENSP00000377783:p.Met611Ile					PROS1_ENST00000407433.1_Missense_Mutation_p.M480I	p.M611I	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			14	2149	-			611		M -> K (in PROS1D).|M -> T (in PROS1D).	Laminin G-like 2.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1833G>A	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847614	0.71603	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.77489	-1.1;-1.1	4.64	4.64	0.57946	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88032	0.6328	M	0.80616	2.505	0.51482	D	0.999921	D	0.59357	0.985	D	0.72338	0.977	D	0.88931	0.3373	10	0.52906	T	0.07	.	16.4217	0.83760	0.0:1.0:0.0:0.0	.	611	P07225	PROS_HUMAN	I	611;480	ENSP00000377783:M611I;ENSP00000385794:M480I	ENSP00000377783:M611I	M	-	3	0	PROS1	95078537	0.958000	0.32768	0.988000	0.46212	0.709000	0.40893	2.613000	0.46351	2.400000	0.81607	0.555000	0.69702	ATG		0.378	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		19	102	0	0	0	1	0	19	102				
ZNF267	10308	broad.mit.edu	37	16	31896534	31896534	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr16:31896534G>A	ENST00000300870.10	+	3	392	c.183G>A	c.(181-183)gaG>gaA	p.E61E	ZNF267_ENST00000394846.3_Silent_p.E61E	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGGAAAGAGCCTTGGAATG	0.448																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(181-183)gaG>gaA		zinc finger protein 267							63.0	61.0	61.0					16																	31896534		2197	4300	6497	SO:0001819	synonymous_variant	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31896534G>A	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.183G>A	16.37:g.31896534G>A						ZNF267_ENST00000394846.3_Silent_p.E61E	p.E61E	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			3	392	+			61			KRAB.		A0JNZ9|Q8NE41|Q9NRJ0	Silent	SNP	ENST00000300870.10	37	c.183G>A	CCDS32440.1																																																																																				0.448	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		5	18	0	0	0	1	0	5	18				
ZNF385D	79750	broad.mit.edu	37	3	21465539	21465539	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:21465539C>A	ENST00000281523.2	-	7	1388	c.870G>T	c.(868-870)agG>agT	p.R290S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	290						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGTCTTTGTGCCTTCTACTGC	0.398																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(868-870)agG>agT		zinc finger protein 385D							150.0	146.0	147.0					3																	21465539		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21465539C>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.870G>T	3.37:g.21465539C>A	ENSP00000281523:p.Arg290Ser						p.R290S	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			7	1388	-			290						Missense_Mutation	SNP	ENST00000281523.2	37	c.870G>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779244	0.70107	.	.	ENSG00000151789	ENST00000281523	T	0.25749	1.78	5.6	4.73	0.59995	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.095323	0.64402	D	0.000001	T	0.49098	0.1537	M	0.66939	2.045	0.43047	D	0.994641	D	0.76494	0.999	D	0.81914	0.995	T	0.53479	-0.8433	10	0.72032	D	0.01	-10.5594	14.5397	0.67984	0.0:0.9292:0.0:0.0708	.	290	Q9H6B1	Z385D_HUMAN	S	290	ENSP00000281523:R290S	ENSP00000281523:R290S	R	-	3	2	ZNF385D	21440543	0.992000	0.36948	1.000000	0.80357	0.992000	0.81027	0.319000	0.19522	1.364000	0.46038	0.561000	0.74099	AGG		0.398	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		13	43	1	0	9.05144e-12	1	9.86607e-12	13	43				
CEACAM7	1087	broad.mit.edu	37	19	42187954	42187954	+	Silent	SNP	A	A	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:42187954A>G	ENST00000006724.3	-	3	669	c.468T>C	c.(466-468)aaT>aaC	p.N156N	CEACAM7_ENST00000401731.1_Silent_p.N156N|CEACAM7_ENST00000599715.1_5'Flank|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	156	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCTCCACCGGATTGAAGTTGT	0.522																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(466-468)aaT>aaC		carcinoembryonic antigen-related cell adhesion molecule 7							148.0	147.0	147.0					19																	42187954		2203	4300	6503	SO:0001819	synonymous_variant	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187954A>G	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.468T>C	19.37:g.42187954A>G						CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Silent_p.N156N|CEACAM7_ENST00000338196.4_Intron	p.N156N	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	3	669	-			156			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Silent	SNP	ENST00000006724.3	37	c.468T>C	CCDS12583.1																																																																																				0.522	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		34	70	0	0	0	1	0	34	70				
PCDHA5	56143	broad.mit.edu	37	5	140202157	140202157	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:140202157C>G	ENST00000529859.1	+	1	797	c.797C>G	c.(796-798)tCa>tGa	p.S266*	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Nonsense_Mutation_p.S266*|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Nonsense_Mutation_p.S266*|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	266	Cadherin 3. {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)			CTGAACGCCTCAGATGCAGAT	0.333																																						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.(796-798)tCa>tGa									53.0	54.0	54.0					5																	140202157		2203	4299	6502	SO:0001587	stop_gained	56143							g.chr5:140202157C>G	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.797C>G	5.37:g.140202157C>G	ENSP00000436557:p.Ser266*					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Nonsense_Mutation_p.S266*|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Nonsense_Mutation_p.S266*	p.S266*	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	797	+								O75284|Q8N4R3	Nonsense_Mutation	SNP	ENST00000529859.1	37	c.797C>G	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938444	0.92526	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0336	0.64632	0.0:0.8481:0.1519:0.0	.	.	.	.	X	266	.	ENSP00000367366:S266X	S	+	2	0	PCDHA5	140182341	0.011000	0.17503	1.000000	0.80357	0.997000	0.91878	2.487000	0.45268	1.995000	0.58328	0.655000	0.94253	TCA		0.333	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		13	42	0	0	0	1	0	13	42				
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T	rs376271028		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1				BMS1 pseudogene 20																		TGTTTAATTCAGCCTTGGAAG	0.413																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664115A>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664115A>T								NR_027293.1						0	638	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	51	0	0	0	1	0	4	51				
RASA2	5922	broad.mit.edu	37	3	141327388	141327388	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:141327388G>A	ENST00000452898.1	+	21	2112	c.2077G>A	c.(2077-2079)Gaa>Aaa	p.E693K	RASA2_ENST00000286364.3_Missense_Mutation_p.E692K|RASA2_ENST00000509118.1_3'UTR	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	693	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TAACTGTGTAGAAGCTAATGA	0.403																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(2074-2076)Gaa>Aaa		RAS p21 protein activator 2							128.0	121.0	124.0					3																	141327388		2203	4300	6503	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141327388G>A	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.2077G>A	3.37:g.141327388G>A	ENSP00000391677:p.Glu693Lys					RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.E693K	p.E692K			Q15283	RASA2_HUMAN			21	2109	+			692			PH.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.2074G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.126432	0.94429	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.79247	-1.25;-1.25	5.39	4.51	0.55191	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.94021	3.485	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.77557	0.99;0.983;0.99	D	0.92942	0.6373	10	0.87932	D	0	.	14.4225	0.67193	0.0707:0.0:0.9293:0.0	.	693;693;692	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	K	692;693	ENSP00000286364:E692K;ENSP00000391677:E693K	ENSP00000286364:E692K	E	+	1	0	RASA2	142810078	1.000000	0.71417	0.996000	0.52242	0.902000	0.53008	9.263000	0.95617	1.509000	0.48786	0.650000	0.86243	GAA		0.403	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		13	109	0	0	0	1	0	13	109				
RYR2	6262	broad.mit.edu	37	1	237972270	237972270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:237972270C>T	ENST00000366574.2	+	100	14685	c.14368C>T	c.(14368-14370)Cga>Tga	p.R4790*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.R4774*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.R4796*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4790					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R4788R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATTTTTTCCGAAAATTCTA	0.353																																						ENST00000366574.2																			1	Substitution - coding silent(1)	p.R4788R(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14368-14370)Cga>Tga		ryanodine receptor 2 (cardiac)							260.0	254.0	256.0					1																	237972270		1845	4094	5939	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237972270C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14368C>T	1.37:g.237972270C>T	ENSP00000355533:p.Arg4790*					RYR2_ENST00000360064.6_Nonsense_Mutation_p.R4796*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R4774*	p.R4790*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		100	14685	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4790					Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.14368C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	55	24.986533	0.99963	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	.	.	.	4.88	3.95	0.45737	.	0.000000	0.47852	U	0.000203	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.754	0.69549	0.146:0.854:0.0:0.0	.	.	.	.	X	4790;4796;4774;223	.	ENSP00000353174:R4796X	R	+	1	2	RYR2	236038893	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.324000	0.52022	1.162000	0.42619	-0.309000	0.09137	CGA		0.353	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		25	80	0	0	0	1	0	25	80				
IGF2R	3482	broad.mit.edu	37	6	160500709	160500709	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr6:160500709C>T	ENST00000356956.1	+	38	5724	c.5576C>T	c.(5575-5577)tCa>tTa	p.S1859L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1859					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGTCTGCTCTCAGGCACCAAG	0.557																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(5575-5577)tCa>tTa		insulin-like growth factor 2 receptor							124.0	106.0	112.0					6																	160500709		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160500709C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5576C>T	6.37:g.160500709C>T	ENSP00000349437:p.Ser1859Leu						p.S1859L	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	38	5724	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1859					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5576C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973418	0.74246	.	.	ENSG00000197081	ENST00000356956	T	0.02258	4.37	6.0	5.12	0.69794	Mannose-6-phosphate receptor, binding (1);	0.261960	0.40222	N	0.001143	T	0.07052	0.0179	M	0.73217	2.22	0.43073	D	0.99471	D	0.76494	0.999	D	0.74674	0.984	T	0.04976	-1.0914	10	0.72032	D	0.01	-15.2657	16.5017	0.84259	0.1319:0.8681:0.0:0.0	.	1859	P11717	MPRI_HUMAN	L	1859	ENSP00000349437:S1859L	ENSP00000349437:S1859L	S	+	2	0	IGF2R	160420699	0.991000	0.36638	0.000000	0.03702	0.458000	0.32498	3.138000	0.50570	1.495000	0.48549	0.655000	0.94253	TCA		0.557	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		11	39	0	0	0	1	0	11	39				
MKKS	8195	broad.mit.edu	37	20	10393947	10393947	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:10393947G>A	ENST00000347364.3	-	3	978	c.216C>T	c.(214-216)ccC>ccT	p.P72P	MKKS_ENST00000399054.2_Silent_p.P72P	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	72					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TCTTTAAAATGGGATGTGTGA	0.463																																					Melanoma(79;1979 2212 6640)	ENST00000347364.2																			0				kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						c.(214-216)ccC>ccT		McKusick-Kaufman syndrome							153.0	134.0	140.0					20																	10393947		2203	4300	6503	SO:0001819	synonymous_variant	8195				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	g.chr20:10393947G>A	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.216C>T	20.37:g.10393947G>A							p.P72P	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN			3	978	-			72					A8K7B0|D3DW18	Silent	SNP	ENST00000347364.3	37	c.216C>T	CCDS13111.1																																																																																				0.463	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			12	68	0	0	0	1	0	12	68				
MYH1	4619	broad.mit.edu	37	17	10399728	10399728	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:10399728C>G	ENST00000226207.5	-	34	4889	c.4795G>C	c.(4795-4797)Gag>Cag	p.E1599Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1599					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGCATGGACTCCACGATTCTA	0.443																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(4795-4797)Gag>Cag		myosin, heavy chain 1, skeletal muscle, adult							260.0	230.0	240.0					17																	10399728		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399728C>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4795G>C	17.37:g.10399728C>G	ENSP00000226207:p.Glu1599Gln					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.E1599Q	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			34	4889	-			1599					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4795G>C	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222868	0.79464	.	.	ENSG00000109061	ENST00000226207	T	0.80824	-1.42	5.42	5.42	0.78866	Myosin tail (1);	0.000000	0.43579	U	0.000542	D	0.93207	0.7836	H	0.95884	3.735	0.58432	D	0.999999	D	0.63880	0.993	D	0.69142	0.962	D	0.94896	0.8052	10	0.87932	D	0	.	19.573	0.95428	0.0:1.0:0.0:0.0	.	1599	P12882	MYH1_HUMAN	Q	1599	ENSP00000226207:E1599Q	ENSP00000226207:E1599Q	E	-	1	0	MYH1	10340453	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.594000	0.82698	2.687000	0.91594	0.655000	0.94253	GAG		0.443	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		28	101	0	0	0	1	0	28	101				
PDIA5	10954	broad.mit.edu	37	3	122849361	122849361	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:122849361C>T	ENST00000316218.7	+	11	903	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	270	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CCCTGAGACTCCCTGGGCAGA	0.592																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(808-810)Ccc>Tcc		protein disulfide isomerase family A, member 5							80.0	72.0	74.0					3																	122849361		2203	4300	6503	SO:0001583	missense	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122849361C>T	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.808C>T	3.37:g.122849361C>T	ENSP00000323313:p.Pro270Ser						p.P270S	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	11	903	+			270			Thioredoxin 2.		D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.808C>T	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558342	0.45590	.	.	ENSG00000065485	ENST00000316218	T	0.62232	0.04	5.62	4.7	0.59300	Thioredoxin-like fold (3);	0.054609	0.85682	D	0.000000	T	0.41396	0.1157	N	0.11313	0.125	0.58432	D	0.999997	B	0.14805	0.011	B	0.17979	0.02	T	0.31916	-0.9926	10	0.07813	T	0.8	.	16.5439	0.84409	0.0:0.8589:0.1411:0.0	.	270	Q14554	PDIA5_HUMAN	S	270	ENSP00000323313:P270S	ENSP00000323313:P270S	P	+	1	0	PDIA5	124332051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.278000	0.65592	2.637000	0.89404	0.462000	0.41574	CCC		0.592	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		13	133	0	0	0	1	0	13	133				
AP3D1	8943	broad.mit.edu	37	19	2120904	2120904	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:2120904C>G	ENST00000345016.5	-	14	1669	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	AP3D1_ENST00000355272.6_Missense_Mutation_p.E480Q|AP3D1_ENST00000350812.6_Missense_Mutation_p.E311Q|AP3D1_ENST00000356926.4_Missense_Mutation_p.E389Q|AP3D1_ENST00000590683.1_5'Flank	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	480					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACAGCACCTCACAGATCCCG	0.647																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1438-1440)Gag>Cag		adaptor-related protein complex 3, delta 1 subunit							40.0	45.0	43.0					19																	2120904		2188	4284	6472	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2120904C>G	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1438G>C	19.37:g.2120904C>G	ENSP00000344055:p.Glu480Gln					AP3D1_ENST00000350812.6_Missense_Mutation_p.E311Q|AP3D1_ENST00000356926.4_Missense_Mutation_p.E389Q|AP3D1_ENST00000345016.5_Missense_Mutation_p.E480Q	p.E480Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1644	-		Hepatocellular(1079;0.137)	480					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.1438G>C	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740993	0.89573	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	4.67	4.67	0.58626	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.70842	2.15	0.80722	D	1	D;D;D	0.89917	1.0;0.967;0.959	D;P;P	0.71870	0.975;0.838;0.835	T	0.56739	-0.7929	10	0.48119	T	0.1	-43.3749	16.537	0.84375	0.0:1.0:0.0:0.0	.	480;480;389	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	Q	389;480;480;480;311	ENSP00000349398:E389Q;ENSP00000344055:E480Q;ENSP00000347416:E480Q;ENSP00000342321:E311Q	ENSP00000341579:E480Q	E	-	1	0	AP3D1	2071904	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	7.648000	0.83479	2.161000	0.67846	0.462000	0.41574	GAG		0.647	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			4	51	0	0	0	1	0	4	51				
MKI67	4288	broad.mit.edu	37	10	129904445	129904445	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr10:129904445C>T	ENST00000368654.3	-	13	6034	c.5659G>A	c.(5659-5661)Gag>Aag	p.E1887K	MKI67_ENST00000368653.3_Missense_Mutation_p.E1527K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1887	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AATTCTTCCTCTACGTCTGCT	0.458																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(5659-5661)Gag>Aag		marker of proliferation Ki-67							278.0	279.0	279.0					10																	129904445		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904445C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5659G>A	10.37:g.129904445C>T	ENSP00000357643:p.Glu1887Lys					MKI67_ENST00000368653.3_Missense_Mutation_p.E1527K	p.E1887K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6034	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1887			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5659G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	1.761	-0.486775	0.04352	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01767	4.65;4.65	2.96	-5.92	0.02261	.	3.999860	0.01201	N	0.007564	T	0.01695	0.0054	L	0.39020	1.185	0.09310	N	1	B;P;P	0.52692	0.006;0.955;0.828	B;P;P	0.47251	0.008;0.491;0.542	T	0.52548	-0.8561	10	0.06236	T	0.91	.	1.5332	0.02539	0.1182:0.2278:0.3092:0.3448	.	1886;1527;1887	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	1887;1527;1886	ENSP00000357643:E1887K;ENSP00000357642:E1527K	ENSP00000357642:E1527K	E	-	1	0	MKI67	129794435	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.705000	0.00821	-1.440000	0.01960	-0.291000	0.09656	GAG		0.458	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		70	193	0	0	0	1	0	70	193				
CD200R1L	344807	broad.mit.edu	37	3	112545847	112545847	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:112545847C>G	ENST00000398214.1	-	4	897	c.672G>C	c.(670-672)ttG>ttC	p.L224F	CD200R1L_ENST00000448932.1_Missense_Mutation_p.L203F|CD200R1L_ENST00000488794.1_Missense_Mutation_p.L203F	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	224						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TACCTGAATTCAACTTTACGG	0.433																																						ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(607-609)ttG>ttC		CD200 receptor 1-like							66.0	69.0	68.0					3																	112545847		2183	4298	6481	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112545847C>G	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.672G>C	3.37:g.112545847C>G	ENSP00000381272:p.Leu224Phe					CD200R1L_ENST00000448932.1_Missense_Mutation_p.L203F|CD200R1L_ENST00000398214.1_Missense_Mutation_p.L224F	p.L203F			Q6Q8B3	MO2R2_HUMAN			6	1198	-			224			Ig-like C2-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.609G>C	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133051	0.37630	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.24908	1.83;1.86;1.86	4.14	-0.0504	0.13830	.	1.028080	0.07758	N	0.949541	T	0.40932	0.1137	L	0.54323	1.7	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.27331	-1.0077	10	0.56958	D	0.05	.	6.1916	0.20528	0.0:0.4501:0.0:0.5499	.	224	Q6Q8B3	MO2R2_HUMAN	F	224;203;203	ENSP00000381272:L224F;ENSP00000418413:L203F;ENSP00000415132:L203F	ENSP00000381272:L224F	L	-	3	2	CD200R1L	114028537	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.198000	0.09505	0.074000	0.16767	0.655000	0.94253	TTG		0.433	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		14	149	0	0	0	1	0	14	149				
ST3GAL3	6487	broad.mit.edu	37	1	44365307	44365307	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:44365307G>A	ENST00000361392.4	+	9	829	c.652G>A	c.(652-654)Gag>Aag	p.E218K	ST3GAL3_ENST00000372372.2_Missense_Mutation_p.E256K|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.E202K|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.E187K|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.E287K|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.E272K|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.E272K|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.E187K|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.E218K|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.E256K|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.E218K|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.E202K|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.E287K|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.E233K|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.E218K|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372367.1_Intron	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	218					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GCAGCGGCCTGAGCAGTACGA	0.542																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(859-861)Gag>Aag		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							109.0	108.0	108.0					1																	44365307		2203	4300	6503	SO:0001583	missense	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44365307G>A	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.652G>A	1.37:g.44365307G>A	ENSP00000355341:p.Glu218Lys					ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.E287K|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.E218K|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.E256K|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.E187K|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.E272K|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.E218K|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.E272K|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.E187K|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.E218K|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.E256K|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.E202K|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.E233K|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.E218K|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.E202K|ST3GAL3_ENST00000531816.1_Intron	p.E287K	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			10	1036	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	218					A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	c.859G>A	CCDS492.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539258	0.85917	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372368;ENST00000372372;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.69	5.69	0.88448	.	0.163302	0.53938	D	0.000054	T	0.41396	0.1157	L	0.35487	1.065	0.80722	D	1	D;D;D;D;D;B;D;P;D;P;D	0.71674	0.982;0.998;0.998;0.968;0.992;0.395;0.982;0.851;0.975;0.754;0.986	P;D;D;P;D;B;P;P;P;P;D	0.65987	0.858;0.94;0.919;0.802;0.94;0.372;0.775;0.525;0.875;0.525;0.913	T	0.05500	-1.0881	10	0.06625	T	0.88	.	19.8211	0.96595	0.0:0.0:1.0:0.0	.	218;171;202;187;218;256;202;272;218;287;233	Q11203-5;Q11203-21;Q11203-16;Q11203-7;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.	K	218;202;287;272;256;187;218;233;218;287;272;256;202;218;187	ENSP00000355341:E218K;ENSP00000354748:E202K;ENSP00000262915:E287K;ENSP00000361450:E272K;ENSP00000316999:E256K;ENSP00000361449:E187K;ENSP00000330463:E218K;ENSP00000317192:E233K;ENSP00000361444:E218K;ENSP00000354657:E287K;ENSP00000361443:E272K;ENSP00000361447:E256K;ENSP00000432682:E202K;ENSP00000432965:E218K;ENSP00000329755:E187K	ENSP00000262915:E287K	E	+	1	0	ST3GAL3	44137894	1.000000	0.71417	0.882000	0.34594	0.950000	0.60333	9.361000	0.97122	2.687000	0.91594	0.655000	0.94253	GAG		0.542	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		16	62	0	0	0	1	0	16	62				
CNTN6	27255	broad.mit.edu	37	3	1418744	1418744	+	Silent	SNP	C	C	T	rs369886465		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:1418744C>T	ENST00000446702.2	+	17	2778	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L	CNTN6_ENST00000350110.2_Silent_p.L717L|CNTN6_ENST00000539053.1_Silent_p.L645L			Q9UQ52	CNTN6_HUMAN	contactin 6	717	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGTCTGAACTCGTCATTACGT	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18514	0.0		0.0	False		,,,				2504	0.0					ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2149-2151)ctC>ctT		contactin 6		C		2,4404	4.2+/-10.8	0,2,2201	191.0	181.0	184.0		2151	1.8	1.0	3		184	0,8600		0,0,4300	no	coding-synonymous	CNTN6	NM_014461.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		717/1029	1418744	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1418744C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2151C>T	3.37:g.1418744C>T						CNTN6_ENST00000350110.2_Silent_p.L717L|CNTN6_ENST00000539053.1_Silent_p.L645L	p.L717L			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	17	2778	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	717			Fibronectin type-III 2.		Q2KHM2	Silent	SNP	ENST00000446702.2	37	c.2151C>T	CCDS2557.1																																																																																				0.378	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		22	53	0	0	0	1	0	22	53				
DNAAF3	352909	broad.mit.edu	37	19	55672125	55672125	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:55672125G>C	ENST00000524407.2	-	9	964	c.931C>G	c.(931-933)Caa>Gaa	p.Q311E	DNAAF3_ENST00000527223.2_Missense_Mutation_p.Q379E|DNAAF3_ENST00000391720.4_Missense_Mutation_p.Q358E|DNAAF3_ENST00000587789.2_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Missense_Mutation_p.Q257E|CTD-2587H24.4_ENST00000587871.1_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	311					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											ACGTTGTGTTGAGTGATCTCC	0.711																																						ENST00000527223.2																			0											c.(1135-1137)Caa>Gaa		dynein, axonemal, assembly factor 3							33.0	34.0	34.0					19																	55672125		1917	4101	6018	SO:0001583	missense	352909							g.chr19:55672125G>C	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.931C>G	19.37:g.55672125G>C	ENSP00000432046:p.Gln311Glu					DNAAF3_ENST00000524407.2_Missense_Mutation_p.Q311E|DNAAF3_ENST00000455045.1_Missense_Mutation_p.Q257E|DNAAF3_ENST00000391720.4_Missense_Mutation_p.Q358E|CTD-2587H24.5_ENST00000591665.1_RNA	p.Q379E	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN			9	1136	-			311					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.1135C>G	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.324566	0.00229	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.14144	2.53;2.53	3.88	2.8	0.32819	.	0.487230	0.20149	N	0.098204	T	0.04679	0.0127	N	0.03917	-0.325	0.09310	N	1	B;B;B;B	0.12013	0.001;0.005;0.004;0.003	B;B;B;B	0.09377	0.003;0.004;0.004;0.003	T	0.41378	-0.9512	10	0.05436	T	0.98	-12.3673	9.876	0.41205	0.0:0.2105:0.7895:0.0	.	379;257;332;311	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	E	379;257;358	ENSP00000394343:Q257E;ENSP00000375600:Q358E	ENSP00000301249:Q379E	Q	-	1	0	C19orf51	60363937	0.303000	0.24463	0.025000	0.17156	0.036000	0.12997	2.926000	0.48892	0.924000	0.37069	0.505000	0.49811	CAA		0.711	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		6	56	0	0	0	1	0	6	56				
PASD1	139135	broad.mit.edu	37	X	150817168	150817168	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chrX:150817168C>G	ENST00000370357.4	+	9	956	c.711C>G	c.(709-711)atC>atG	p.I237M		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	237						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ctgctgctATCTCAGACGTAT	0.418																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(709-711)atC>atG		PAS domain containing 1							68.0	65.0	66.0					X																	150817168		2203	4299	6502	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150817168C>G	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.711C>G	X.37:g.150817168C>G	ENSP00000359382:p.Ile237Met						p.I237M	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	956	+	Acute lymphoblastic leukemia(192;6.56e-05)		237					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.711C>G	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	9.770	1.172433	0.21704	.	.	ENSG00000166049	ENST00000370357	T	0.69685	-0.42	4.14	0.0564	0.14319	.	.	.	.	.	T	0.42063	0.1186	N	0.14661	0.345	0.09310	N	1	P	0.40794	0.729	B	0.38378	0.272	T	0.23619	-1.0183	9	0.33940	T	0.23	.	3.4058	0.07340	0.347:0.4392:0.0:0.2137	.	237	Q8IV76	PASD1_HUMAN	M	237	ENSP00000359382:I237M	ENSP00000359382:I237M	I	+	3	3	PASD1	150567824	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.011000	0.12721	-0.245000	0.09625	0.422000	0.28245	ATC		0.418	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		28	13	0	0	0	1	0	28	13				
LRP6	4040	broad.mit.edu	37	12	12283759	12283759	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr12:12283759G>C	ENST00000261349.4	-	19	4115	c.4039C>G	c.(4039-4041)Cat>Gat	p.H1347D	LRP6_ENST00000543091.1_Missense_Mutation_p.H1302D|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1347	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCACATTATGATCACACTTC	0.333																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4039-4041)Cat>Gat		low density lipoprotein receptor-related protein 6							109.0	90.0	96.0					12																	12283759		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12283759G>C	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4039C>G	12.37:g.12283759G>C	ENSP00000261349:p.His1347Asp					LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Missense_Mutation_p.H1302D|BCL2L14_ENST00000396369.1_Intron	p.H1347D	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			19	4115	-		Prostate(47;0.0865)	1347			LDL-receptor class A 3.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4039C>G	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280236	0.40294	.	.	ENSG00000070018	ENST00000261349;ENST00000540527;ENST00000543091	D;D;D	0.95238	-3.65;-3.65;-3.65	6.06	5.14	0.70334	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.191348	0.35555	N	0.003135	D	0.91412	0.7290	L	0.33753	1.03	0.41950	D	0.990654	B;B	0.15473	0.013;0.004	B;B	0.23275	0.015;0.045	D	0.87896	0.2687	10	0.66056	D	0.02	.	16.7717	0.85539	0.0:0.0:0.8704:0.1296	.	1302;1347	F5H7J9;O75581	.;LRP6_HUMAN	D	1347;27;1302	ENSP00000261349:H1347D;ENSP00000443239:H27D;ENSP00000442472:H1302D	ENSP00000261349:H1347D	H	-	1	0	LRP6	12175026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.259000	0.65485	2.882000	0.98803	0.655000	0.94253	CAT		0.333	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			6	15	0	0	0	1	0	6	15				
KDM6B	23135	broad.mit.edu	37	17	7752801	7752801	+	Silent	SNP	G	G	A	rs372614245		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:7752801G>A	ENST00000448097.2	+	11	3526	c.3195G>A	c.(3193-3195)ccG>ccA	p.P1065P	KDM6B_ENST00000254846.5_Silent_p.P1065P			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1065	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.P1065P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCACACCCCCGTCAGCCTCTG	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		14560	0.0		0.0	False		,,,				2504	0.001					ENST00000254846.5																			1	Substitution - coding silent(1)	p.P1065P(1)	pancreas(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3193-3195)ccG>ccA		lysine (K)-specific demethylase 6B		G		1,4367		0,1,2183	14.0	16.0	15.0		3195	-5.4	0.4	17		15	0,8518		0,0,4259	no	coding-synonymous	KDM6B	NM_001080424.1		0,1,6442	AA,AG,GG		0.0,0.0229,0.0078		1065/1683	7752801	1,12885	2184	4259	6443	SO:0001819	synonymous_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752801G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3195G>A	17.37:g.7752801G>A						KDM6B_ENST00000448097.2_Silent_p.P1065P	p.P1065P	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	3584	+			1065			Pro-rich.		C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	37	c.3195G>A																																																																																					0.677	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		6	24	0	0	0	1	0	6	24				
EP400	57634	broad.mit.edu	37	12	132547135	132547136	+	In_Frame_Ins	INS	-	-	CAG			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr12:132547135_132547136insCAG	ENST00000333577.4	+	48	8440_8441	c.8331_8332insCAG	c.(8332-8334)caa>CAGcaa	p.2778_2778Q>QQ	EP400_ENST00000389561.2_In_Frame_Ins_p.2742_2742Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2741_2741Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2705_2705Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2661_2661Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacagcagca	0.589																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8329-8334)caaaca>caCAGaaca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547135_132547136insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547133_132547135dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR	p.2777_2777Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8440_8441	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2777			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8331_8332insCAG																																																																																					0.589	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		10	54						10	54	---	---	---	---
