#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
R3HDM2	22864	broad.mit.edu	37	12	57648881	57648881	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr12:57648881A>G	ENST00000347140.3	-	24	2996	c.2606T>C	c.(2605-2607)cTg>cCg	p.L869P	R3HDM2_ENST00000546843.1_5'Flank|R3HDM2_ENST00000358907.2_Missense_Mutation_p.L869P|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000403821.2_Missense_Mutation_p.L903P|RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000402412.1_Missense_Mutation_p.L883P|R3HDM2_ENST00000441731.2_Missense_Mutation_p.L564P			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	869						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGTCACCTCCAGCACCCGCCC	0.587																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(2647-2649)cTg>cCg		R3H domain containing 2							51.0	50.0	50.0					12																	57648881		2203	4300	6503	SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57648881A>G	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2606T>C	12.37:g.57648881A>G	ENSP00000317903:p.Leu869Pro					R3HDM2_ENST00000393811.2_Missense_Mutation_p.L596P|R3HDM2_ENST00000358907.2_Missense_Mutation_p.L869P|R3HDM2_ENST00000347140.3_Missense_Mutation_p.L869P|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.L564P|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000403821.2_Missense_Mutation_p.L903P	p.L883P			Q9Y2K5	R3HD2_HUMAN			24	3038	-			869					Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	c.2648T>C	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385316	0.82792	.	.	ENSG00000179912	ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T	0.69685	-0.42;0.48;0.51;0.48;-0.34;0.24;0.54	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000002	T	0.77280	0.4107	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.87578	0.995;0.995;0.995;0.998	T	0.78811	-0.2057	10	0.62326	D	0.03	-8.4322	14.5277	0.67900	1.0:0.0:0.0:0.0	.	903;883;869;596	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	P	596;869;883;869;564;634;903	ENSP00000377400:L596P;ENSP00000317903:L869P;ENSP00000385839:L883P;ENSP00000351784:L869P;ENSP00000408536:L564P;ENSP00000394676:L634P;ENSP00000385169:L903P	ENSP00000317903:L869P	L	-	2	0	R3HDM2	55935148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.710000	0.91388	2.326000	0.78906	0.533000	0.62120	CTG		0.587	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		15	64	0	0	0	0.457914	0	15	64				
FGG	2266	broad.mit.edu	37	4	155533709	155533709	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr4:155533709A>T	ENST00000336098.3	-	1	91	c.53T>A	c.(52-54)tTa>tAa	p.L18*	FGG_ENST00000404648.3_Nonsense_Mutation_p.L18*|FGG_ENST00000405164.1_Nonsense_Mutation_p.L18*|FGG_ENST00000407946.1_Nonsense_Mutation_p.L18*	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	18					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGAGAGAAATAAAAGAGCATA	0.403																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(52-54)tTa>tAa		fibrinogen gamma chain	Sucralfate(DB00364)						90.0	98.0	95.0					4																	155533709		2203	4300	6503	SO:0001587	stop_gained	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155533709A>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.53T>A	4.37:g.155533709A>T	ENSP00000336829:p.Leu18*					FGG_ENST00000407946.1_Nonsense_Mutation_p.L18*|FGG_ENST00000405164.1_Nonsense_Mutation_p.L18*|FGG_ENST00000336098.3_Nonsense_Mutation_p.L18*	p.L18*	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			1	292	-	all_hematologic(180;0.215)	Renal(120;0.0458)	18					A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Nonsense_Mutation	SNP	ENST00000336098.3	37	c.53T>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244337	0.39697	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	.	.	.	5.83	-2.41	0.06562	.	1.768570	0.02607	N	0.101689	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6998	0.45920	0.2892:0.1267:0.5841:0.0	.	.	.	.	X	18	.	ENSP00000336829:L18X	L	-	2	0	FGG	155753159	0.000000	0.05858	0.000000	0.03702	0.275000	0.26752	0.615000	0.24329	-0.650000	0.05423	-0.250000	0.11733	TTA		0.403	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		30	84	0	0	0	0.729181	0	30	84				
MMP27	64066	broad.mit.edu	37	11	102575298	102575298	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:102575298G>A	ENST00000260229.4	-	2	402	c.311C>T	c.(310-312)cCt>cTt	p.P104L		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	104					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TCTCCACCCAGGGAGGGTGTA	0.473																																						ENST00000260229.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(310-312)cCt>cTt		matrix metallopeptidase 27							115.0	114.0	115.0					11																	102575298		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102575298G>A	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.311C>T	11.37:g.102575298G>A	ENSP00000260229:p.Pro104Leu						p.P104L	NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	2	402	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	104					Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.311C>T	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358309	0.82243	.	.	ENSG00000137675	ENST00000260229	T	0.48201	0.82	5.55	5.55	0.83447	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000017	T	0.50548	0.1622	L	0.36672	1.1	0.80722	D	1	P	0.51791	0.948	P	0.50136	0.632	T	0.35301	-0.9794	10	0.34782	T	0.22	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	104	Q9H306	MMP27_HUMAN	L	104	ENSP00000260229:P104L	ENSP00000260229:P104L	P	-	2	0	MMP27	102080508	0.985000	0.35326	0.877000	0.34402	0.798000	0.45092	3.052000	0.49893	2.894000	0.99253	0.591000	0.81541	CCT		0.473	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		31	99	0	0	0	0.740014	0	31	99				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473127	22473127	+	RNA	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:22473127G>T	ENST00000557788.2	-	0	143							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											TACTACTGCTGATGGAGCCAC	0.622																																						ENST00000557788.2																			0																																																			28317							g.chr15:22473127G>T	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473127G>T														0	143	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.622	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			8	98	1	0	4.14922e-12	0.500413	5.73568e-12	8	98				
SLC6A11	6538	broad.mit.edu	37	3	10980053	10980053	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:10980053A>T	ENST00000254488.2	+	14	1930	c.1864A>T	c.(1864-1866)Atc>Ttc	p.I622F		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	622					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TGACGGGACCATCGCAGCCAT	0.547																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1864-1866)Atc>Ttc		solute carrier family 6 (neurotransmitter transporter), member 11							125.0	112.0	117.0					3																	10980053		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10980053A>T	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1864A>T	3.37:g.10980053A>T	ENSP00000254488:p.Ile622Phe						p.I622F	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	14	1930	+			622					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1864A>T	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763339	0.49574	.	.	ENSG00000132164	ENST00000254488	T	0.75589	-0.95	4.81	3.65	0.41850	.	0.165506	0.38778	N	0.001578	T	0.58395	0.2119	N	0.24115	0.695	0.80722	D	1	B	0.14805	0.011	B	0.09377	0.004	T	0.49634	-0.8919	10	0.31617	T	0.26	.	10.3065	0.43683	0.9219:0.0:0.0781:0.0	.	622	P48066	S6A11_HUMAN	F	622	ENSP00000254488:I622F	ENSP00000254488:I622F	I	+	1	0	SLC6A11	10955053	1.000000	0.71417	0.998000	0.56505	0.654000	0.38779	4.795000	0.62489	0.705000	0.31890	0.533000	0.62120	ATC		0.547	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		20	48	0	0	0	0.575678	0	20	48				
MSLN	10232	broad.mit.edu	37	16	815130	815130	+	Silent	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:815130G>A	ENST00000382862.3	+	8	626	c.531G>A	c.(529-531)ctG>ctA	p.L177L	MSLN_ENST00000566549.1_Silent_p.L177L|MSLN_ENST00000545450.2_Silent_p.L177L|MSLN_ENST00000563941.1_Silent_p.L177L	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	177					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGTCTCTGCTGAGCGAGGCTG	0.701																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(529-531)ctG>ctA		mesothelin							21.0	20.0	21.0					16																	815130		2170	4276	6446	SO:0001819	synonymous_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:815130G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.531G>A	16.37:g.815130G>A						MSLN_ENST00000382862.3_Silent_p.L177L|MSLN_ENST00000545450.2_Silent_p.L177L|MSLN_ENST00000563941.1_Silent_p.L177L	p.L177L			Q13421	MSLN_HUMAN			8	948	+		Hepatocellular(780;0.00335)	177					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	c.531G>A	CCDS32356.1																																																																																				0.701	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			26	14	0	0	0	0.717897	0	26	14				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	34	0	0	0	0.115264	0	3	34				
KLRG2	346689	broad.mit.edu	37	7	139164916	139164916	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:139164916T>A	ENST00000340940.4	-	2	904	c.835A>T	c.(835-837)Att>Ttt	p.I279F	KLRG2_ENST00000393039.2_Intron	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	279						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					AGGACCACAATGACAACCCCA	0.597																																						ENST00000340940.4																			0				central_nervous_system(1)|large_intestine(2)|lung(3)	6						c.(835-837)Att>Ttt		killer cell lectin-like receptor subfamily G, member 2							101.0	85.0	91.0					7																	139164916		2203	4300	6503	SO:0001583	missense	346689					integral to membrane	sugar binding	g.chr7:139164916T>A	AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	24778	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member B"""						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.835A>T	7.37:g.139164916T>A	ENSP00000339356:p.Ile279Phe					KLRG2_ENST00000393039.2_Intron	p.I279F	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN			2	904	-	Melanoma(164;0.233)		279					Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	c.835A>T	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.251104	0.59212	.	.	ENSG00000188883	ENST00000340940	T	0.17528	2.27	4.75	-2.42	0.06542	.	1.547490	0.04375	N	0.359833	T	0.17704	0.0425	L	0.27053	0.805	0.19300	N	0.999974	D	0.54047	0.964	P	0.52481	0.7	T	0.24621	-1.0155	10	0.45353	T	0.12	0.5113	5.2171	0.15348	0.0:0.3381:0.1516:0.5103	.	279	A4D1S0	KLRG2_HUMAN	F	279	ENSP00000339356:I279F	ENSP00000339356:I279F	I	-	1	0	KLRG2	138815456	0.007000	0.16637	0.000000	0.03702	0.843000	0.47879	-0.040000	0.12104	-0.203000	0.10251	0.529000	0.55759	ATT		0.597	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	NM_198508		30	49	0	0	0	0.769981	0	30	49				
KCNQ1	3784	broad.mit.edu	37	11	2606480	2606480	+	Missense_Mutation	SNP	G	G	T	rs397508074		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:2606480G>T	ENST00000155840.5	+	8	1179	c.1071G>T	c.(1069-1071)caG>caT	p.Q357H	KCNQ1_ENST00000335475.5_Missense_Mutation_p.Q230H	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	357					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AGGTGCAGCAGAAGCAGAGGC	0.617																																						ENST00000155840.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.(1069-1071)caG>caT		potassium voltage-gated channel, KQT-like subfamily, member 1	Bepridil(DB01244)|Indapamide(DB00808)						113.0	103.0	107.0					11																	2606480		2202	4299	6501	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2606480G>T	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1071G>T	11.37:g.2606480G>T	ENSP00000155840:p.Gln357His					KCNQ1_ENST00000335475.5_Missense_Mutation_p.Q230H	p.Q357H	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	8	1179	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	357					O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.1071G>T	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	g	16.85	3.236301	0.58886	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99369	-5.78;-5.68	3.84	2.9	0.33743	.	0.109105	0.64402	D	0.000005	D	0.99275	0.9747	M	0.81112	2.525	0.48288	D	0.999628	D;D;P	0.89917	1.0;1.0;0.954	D;D;P	0.83275	0.996;0.99;0.607	D	0.99513	1.0956	10	0.87932	D	0	-25.045	12.5169	0.56038	0.0967:0.0:0.9033:0.0	.	230;230;357	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	H	357;230	ENSP00000155840:Q357H;ENSP00000334497:Q230H	ENSP00000155840:Q357H	Q	+	3	2	KCNQ1	2563056	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.928000	0.56506	0.429000	0.26202	-1.783000	0.00646	CAG		0.617	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		20	111	1	0	0.000175454	0.592651	0.000191776	20	111				
HSF2BP	11077	broad.mit.edu	37	21	45076580	45076580	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr21:45076580C>A	ENST00000291560.2	-	3	406	c.75G>T	c.(73-75)aaG>aaT	p.K25N	RRP1B_ENST00000340648.4_5'Flank|HSF2BP_ENST00000542962.1_Intron	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	25					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CCAGATCCTTCTTTCTGACTT	0.383																																						ENST00000291560.2																			0				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7						c.(73-75)aaG>aaT		heat shock transcription factor 2 binding protein							160.0	153.0	156.0					21																	45076580		2203	4300	6503	SO:0001583	missense	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:45076580C>A	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.75G>T	21.37:g.45076580C>A	ENSP00000291560:p.Lys25Asn					HSF2BP_ENST00000542962.1_Intron	p.K25N	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	3	406	-			25					B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	c.75G>T	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649968	0.67472	.	.	ENSG00000160207	ENST00000291560;ENST00000443485	.	.	.	5.32	4.43	0.53597	.	0.050727	0.85682	D	0.000000	T	0.55970	0.1954	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.58092	-0.7697	9	0.72032	D	0.01	-9.8127	8.8475	0.35179	0.0:0.8367:0.0:0.1633	.	25	O75031	HSF2B_HUMAN	N	25	.	ENSP00000291560:K25N	K	-	3	2	HSF2BP	43901008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.035000	0.30216	2.483000	0.83821	0.655000	0.94253	AAG		0.383	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		5	165	1	0	0.00307968	0.278610	0.00321655	5	165				
FAM178A	55719	broad.mit.edu	37	10	102709854	102709854	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:102709854C>T	ENST00000238961.4	+	16	3684	c.3142C>T	c.(3142-3144)Ctt>Ttt	p.L1048F	FAM178A_ENST00000370269.3_Missense_Mutation_p.L1048F	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	1048						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											ACATCGCTATCTTGTGCAGAT	0.348																																						ENST00000238961.3																			0											c.(3142-3144)Ctt>Ttt		family with sequence similarity 178, member A							143.0	137.0	139.0					10																	102709854		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102709854C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.3142C>T	10.37:g.102709854C>T	ENSP00000238961:p.Leu1048Phe					FAM178A_ENST00000370269.3_Missense_Mutation_p.L1048F	p.L1048F	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			16	3290	+			1048					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.3142C>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721022	0.68959	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.61510	0.11;0.1	5.11	5.11	0.69529	.	0.169417	0.38326	N	0.001730	T	0.74230	0.3689	M	0.69823	2.125	0.51012	D	0.999902	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77330	-0.2628	10	0.87932	D	0	-10.5007	14.032	0.64622	0.0:1.0:0.0:0.0	.	1048;1048	Q8IX21;B1AL17	F178A_HUMAN;.	F	1048	ENSP00000238961:L1048F;ENSP00000359292:L1048F	ENSP00000238961:L1048F	L	+	1	0	FAM178A	102699844	1.000000	0.71417	0.999000	0.59377	0.796000	0.44982	3.091000	0.50199	2.383000	0.81215	0.585000	0.79938	CTT		0.348	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			23	96	0	0	0	0.654019	0	23	96				
PPEF1	5475	broad.mit.edu	37	X	18822154	18822154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:18822154G>T	ENST00000361511.4	+	14	1704	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	PPEF1_ENST00000359763.6_Nonsense_Mutation_p.E351*|PPEF1_ENST00000544635.1_Nonsense_Mutation_p.E339*|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000349874.5_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	404	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.E404*(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CAGGTCTCATGAATGTAAGCC	0.418																																						ENST00000361511.4																			1	Substitution - Nonsense(1)	p.E404*(1)	large_intestine(1)	breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1210-1212)Gaa>Taa		protein phosphatase, EF-hand calcium binding domain 1							113.0	103.0	106.0					X																	18822154		2203	4300	6503	SO:0001587	stop_gained	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18822154G>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1210G>T	X.37:g.18822154G>T	ENSP00000354871:p.Glu404*					PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000544635.1_Nonsense_Mutation_p.E339*|PPEF1_ENST00000359763.6_Nonsense_Mutation_p.E351*|PPEF1_ENST00000543630.1_Intron	p.E404*	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			14	1704	+	Hepatocellular(33;0.183)		404			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Nonsense_Mutation	SNP	ENST00000361511.4	37	c.1210G>T	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	39	7.693558	0.98438	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000544635	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.5868	18.2534	0.90011	0.0:0.0:1.0:0.0	.	.	.	.	X	404;351;339	.	ENSP00000352806:E351X	E	+	1	0	PPEF1	18732075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.248000	0.74166	0.594000	0.82650	GAA		0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		18	95	1	0	1.01871e-10	0.575678	1.32999e-10	18	95				
PCDH11X	27328	broad.mit.edu	37	X	91133613	91133613	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:91133613G>A	ENST00000373094.1	+	2	3219	c.2374G>A	c.(2374-2376)Gca>Aca	p.A792T	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A792T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A792T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A792T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A792T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A792T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	792	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGCACTGAAGCACCAGTGAC	0.458																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2374-2376)Gca>Aca		protocadherin 11 X-linked							184.0	149.0	161.0					X																	91133613		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133613G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2374G>A	X.37:g.91133613G>A	ENSP00000362186:p.Ala792Thr					PCDH11X_ENST00000395337.2_Missense_Mutation_p.A792T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A792T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A792T	p.A792T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3219	+			792			Cadherin 7.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2374G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.905712	0.00057	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.15	-7.37	0.01412	Protocadherin (1);Cadherin (1);	0.540138	0.20301	N	0.095024	T	0.05731	0.0150	N	0.02345	-0.59	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.09377	0.002;0.001;0.002;0.002;0.002;0.004;0.002;0.002	T	0.28396	-1.0045	10	0.02654	T	1	.	1.7682	0.03006	0.3195:0.112:0.3471:0.2214	.	792;792;792;792;792;792;792;792	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	792	ENSP00000378746:A792T;ENSP00000362186:A792T;ENSP00000362189:A792T;ENSP00000355040:A792T;ENSP00000362180:A792T;ENSP00000423762:A792T;ENSP00000355105:A792T;ENSP00000384758:A792T;ENSP00000298274:A792T	ENSP00000298274:A792T	A	+	1	0	PCDH11X	91020269	0.967000	0.33354	0.000000	0.03702	0.000000	0.00434	1.403000	0.34612	-1.869000	0.01141	-1.210000	0.01631	GCA		0.458	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		49	169	0	0	0	0.870114	0	49	169				
TMOD3	29766	broad.mit.edu	37	15	52161504	52161504	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:52161504C>A	ENST00000308580.7	+	3	498	c.217C>A	c.(217-219)Ctg>Atg	p.L73M	TMOD3_ENST00000544199.1_Missense_Mutation_p.L73M	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	73						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)	p.L73L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		CCTTTCATATCTGGAGAAAGA	0.458																																					Colon(122;1837 2251 18387 22826)	ENST00000308580.7																			1	Substitution - coding silent(1)	p.L73L(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14						c.(217-219)Ctg>Atg		tropomodulin 3 (ubiquitous)							99.0	99.0	99.0					15																	52161504		2195	4293	6488	SO:0001583	missense	29766					cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52161504C>A	AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.217C>A	15.37:g.52161504C>A	ENSP00000308753:p.Leu73Met					TMOD3_ENST00000544199.1_Missense_Mutation_p.L73M	p.L73M	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN		all cancers(107;0.00194)	3	498	+			73					B2R6G7|Q9NT43|Q9NZR0	Missense_Mutation	SNP	ENST00000308580.7	37	c.217C>A	CCDS10145.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336603	0.60963	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	T;T	0.46451	0.87;0.87	5.37	2.03	0.26663	.	0.000000	0.64402	D	0.000003	T	0.58906	0.2155	M	0.80508	2.5	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.56486	-0.7971	10	0.49607	T	0.09	-7.2682	5.5547	0.17109	0.0:0.4384:0.0:0.5616	.	73	Q9NYL9	TMOD3_HUMAN	M	73	ENSP00000308753:L73M;ENSP00000438909:L73M	ENSP00000308753:L73M	L	+	1	2	TMOD3	49948796	0.582000	0.26749	0.898000	0.35279	0.797000	0.45037	1.133000	0.31430	0.633000	0.30452	-0.137000	0.14449	CTG		0.458	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			21	96	1	0	5.26018e-13	0.608945	7.49177e-13	21	96				
PCDH1	5097	broad.mit.edu	37	5	141248675	141248675	+	Missense_Mutation	SNP	C	C	T	rs145360303		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr5:141248675C>T	ENST00000394536.3	-	2	501	c.362G>A	c.(361-363)cGt>cAt	p.R121H	PCDH1_ENST00000503492.1_Missense_Mutation_p.R121H|PCDH1_ENST00000456271.1_Missense_Mutation_p.R121H|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000287008.3_Missense_Mutation_p.R121H|PCDH1_ENST00000536585.1_Missense_Mutation_p.R99H	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGCATTCACGGAGCCCCTC	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20062	0.0		0.0	False		,,,				2504	0.0				Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(361-363)cGt>cAt		protocadherin 1		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	97.0	93.0	95.0		362,362	4.2	1.0	5	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PCDH1	NM_002587.3,NM_032420.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	121/1061,121/1238	141248675	1,13005	2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248675C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.362G>A	5.37:g.141248675C>T	ENSP00000378043:p.Arg121His					PCDH1_ENST00000456271.1_Missense_Mutation_p.R121H|PCDH1_ENST00000394536.3_Missense_Mutation_p.R121H|PCDH1_ENST00000536585.1_Missense_Mutation_p.R99H|PCDH1_ENST00000503492.1_Missense_Mutation_p.R121H	p.R121H	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	509	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	121			Cadherin 1.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.362G>A	CCDS43375.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.40	3.615364	0.66672	0.0	1.16E-4	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585;ENST00000514773	T;T;T;T;T;T;T	0.53640	0.61;0.67;0.67;0.64;0.64;0.62;2.06	4.21	4.21	0.49690	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.51477	D	0.000083	T	0.58148	0.2102	L	0.44542	1.39	0.41612	D	0.988915	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.938	T	0.58418	-0.7640	10	0.44086	T	0.13	.	14.4287	0.67233	0.0:1.0:0.0:0.0	.	121;121	Q08174;Q08174-2	PCDH1_HUMAN;.	H	121;121;121;121;132;99;99	ENSP00000424667:R121H;ENSP00000287008:R121H;ENSP00000378043:R121H;ENSP00000403497:R121H;ENSP00000350122:R132H;ENSP00000438825:R99H;ENSP00000424163:R99H	ENSP00000287008:R121H	R	-	2	0	PCDH1	141228859	0.710000	0.27896	0.964000	0.40570	0.982000	0.71751	1.468000	0.35332	2.339000	0.79563	0.555000	0.69702	CGT		0.592	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		16	49	0	0	0	0.479597	0	16	49				
SETD2	29072	broad.mit.edu	37	3	47164447	47164447	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:47164447G>T	ENST00000409792.3	-	3	1721	c.1679C>A	c.(1678-1680)tCa>tAa	p.S560*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	560					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TATAGGTTTTGAAAGGGTAGA	0.348			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(1678-1680)tCa>tAa		SET domain containing 2							90.0	96.0	94.0					3																	47164447		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47164447G>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1679C>A	3.37:g.47164447G>T	ENSP00000386759:p.Ser560*						p.S560*	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	1721	-		Acute lymphoblastic leukemia(5;0.0169)	560					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.1679C>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	33	5.281156	0.95489	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.13	3.21	0.36854	.	0.303719	0.23760	N	0.044828	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2635	0.49097	0.0721:0.1282:0.7997:0.0	.	.	.	.	X	560;560;560;516	.	.	S	-	2	0	SETD2	47139451	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.722000	0.54948	1.514000	0.48869	0.650000	0.86243	TCA		0.348	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		39	102	1	0	1.69901e-12	0.812448	2.38369e-12	39	102				
PTPRR	5801	broad.mit.edu	37	12	71078029	71078029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr12:71078029C>A	ENST00000283228.2	-	10	1827	c.1375G>T	c.(1375-1377)Gag>Tag	p.E459*	PTPRR_ENST00000440835.2_Nonsense_Mutation_p.E214*|PTPRR_ENST00000342084.4_Nonsense_Mutation_p.E347*|PTPRR_ENST00000378778.1_Nonsense_Mutation_p.E253*|PTPRR_ENST00000549308.1_Nonsense_Mutation_p.E214*	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	459	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AAGGCTTTCTCCTTGCCACTG	0.443																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1375-1377)Gag>Tag		protein tyrosine phosphatase, receptor type, R							98.0	86.0	90.0					12																	71078029		2203	4300	6503	SO:0001587	stop_gained	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71078029C>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1375G>T	12.37:g.71078029C>A	ENSP00000283228:p.Glu459*					PTPRR_ENST00000440835.2_Nonsense_Mutation_p.E214*|PTPRR_ENST00000549308.1_Nonsense_Mutation_p.E214*|PTPRR_ENST00000378778.1_Nonsense_Mutation_p.E253*|PTPRR_ENST00000342084.4_Nonsense_Mutation_p.E347*	p.E459*	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	10	1827	-			459			Tyrosine-protein phosphatase.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Nonsense_Mutation	SNP	ENST00000283228.2	37	c.1375G>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	39	7.495994	0.98319	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	.	.	.	5.71	5.71	0.89125	.	0.000000	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.2655	19.4597	0.94912	0.0:1.0:0.0:0.0	.	.	.	.	X	214;459;253;347;214	.	ENSP00000283228:E459X	E	-	1	0	PTPRR	69364296	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	5.503000	0.66962	2.701000	0.92244	0.563000	0.77884	GAG		0.443	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		16	48	1	0	2.23348e-06	0.500413	2.69163e-06	16	48				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	59	0	0	0	0.115264	0	3	59				
HTR1D	3352	broad.mit.edu	37	1	23519762	23519762	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:23519762G>T	ENST00000374619.1	-	1	1460	c.951C>A	c.(949-951)ttC>ttA	p.F317L	HTR1D_ENST00000314113.3_Missense_Mutation_p.F317L	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	317	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACACCACGAAGAAGGGCAGCC	0.552																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(949-951)ttC>ttA		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						122.0	117.0	119.0					1																	23519762		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23519762G>T	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.951C>A	1.37:g.23519762G>T	ENSP00000363748:p.Phe317Leu					HTR1D_ENST00000314113.3_Missense_Mutation_p.F317L	p.F317L	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1460	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	317						Missense_Mutation	SNP	ENST00000374619.1	37	c.951C>A	CCDS231.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573463	0.65765	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.72942	-0.7;-0.7	5.34	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85682	0.5753	M	0.92555	3.32	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	D	0.86892	0.2049	10	0.87932	D	0	.	8.6182	0.33845	0.2374:0.0:0.7626:0.0	.	317	P28221	5HT1D_HUMAN	L	317	ENSP00000313661:F317L;ENSP00000363748:F317L	ENSP00000313661:F317L	F	-	3	2	HTR1D	23392349	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.537000	0.36083	1.272000	0.44329	0.650000	0.86243	TTC		0.552	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		5	104	1	0	0.00116845	0.217242	0.00123409	5	104				
KIAA1324L	222223	broad.mit.edu	37	7	86536993	86536993	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:86536993C>G	ENST00000450689.2	-	18	2736	c.2551G>C	c.(2551-2553)Gtc>Ctc	p.V851L	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V611L|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V780L|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V684L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	851						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACCTGGGGACTGAAATCACT	0.358																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2551-2553)Gtc>Ctc		KIAA1324-like							112.0	100.0	104.0					7																	86536993		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86536993C>G	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2551G>C	7.37:g.86536993C>G	ENSP00000413445:p.Val851Leu					KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V684L|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V780L|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V611L	p.V851L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			18	2736	-	Esophageal squamous(14;0.0058)		851					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2551G>C	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.12|13.12	2.142683|2.142683	0.37825|0.37825	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T|T;T;T;T	0.14640|0.14640	2.49|2.78;2.52;2.49;2.53	5.92|5.92	5.04|5.04	0.67666|0.67666	.|Mannose-6-phosphate receptor, binding (1);	.|0.110392	.|0.64402	.|N	.|0.000009	T|T	0.21590|0.21590	0.0520|0.0520	L|L	0.31926|0.31926	0.97|0.97	0.58432|0.58432	D|D	0.999996|0.999996	.|B;D;D	.|0.60575	.|0.077;0.988;0.988	.|B;P;P	.|0.61658	.|0.174;0.892;0.892	T|T	0.03981|0.03981	-1.0987|-1.0987	7|10	0.13470|0.15952	T|T	0.59|0.53	.|.	14.3162|14.3162	0.66452|0.66452	0.0:0.8518:0.1482:0.0|0.0:0.8518:0.1482:0.0	.|.	.|851;611;684	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	T|L	811|851;611;780;684	ENSP00000406961:S811T|ENSP00000413445:V851L;ENSP00000297222:V611L;ENSP00000397377:V780L;ENSP00000402390:V684L	ENSP00000406961:S811T|ENSP00000297222:V611L	S|V	-|-	2|1	0|0	KIAA1324L|KIAA1324L	86374929|86374929	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	3.182000|3.182000	0.50910|0.50910	1.494000|1.494000	0.48533|0.48533	0.655000|0.655000	0.94253|0.94253	AGT|GTC		0.358	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		6	105	0	0	0	0.248553	0	6	105				
ATP6V0D1	9114	broad.mit.edu	37	16	67478511	67478511	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:67478511C>T	ENST00000290949.3	-	3	551	c.401G>A	c.(400-402)aGc>aAc	p.S134N	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.S175N|ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.S57N	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CTGCTCGAAGCTGCCTAGTGG	0.572																																						ENST00000290949.3																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(400-402)aGc>aAc		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1							117.0	79.0	92.0					16																	67478511		2198	4300	6498	SO:0001583	missense	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67478511C>T	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.401G>A	16.37:g.67478511C>T	ENSP00000290949:p.Ser134Asn					ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.S57N|ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.S175N	p.S134N	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	3	551	-		Ovarian(137;0.0563)	134					P12953|Q02547	Missense_Mutation	SNP	ENST00000290949.3	37	c.401G>A	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396357	0.62177	.	.	ENSG00000159720	ENST00000290949;ENST00000426604;ENST00000540149	T;T	0.30981	1.51;1.51	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.83692	2.655	0.80722	D	1	D;D	0.63046	0.992;0.985	D;D	0.68943	0.961;0.95	T	0.55250	-0.8170	10	0.29301	T	0.29	-32.6492	17.5379	0.87839	0.0:1.0:0.0:0.0	.	175;134	F5GYQ1;P61421	.;VA0D1_HUMAN	N	134;57;175	ENSP00000290949:S134N;ENSP00000441282:S175N	ENSP00000290949:S134N	S	-	2	0	ATP6V0D1	66036012	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.938000	0.70170	2.724000	0.93272	0.561000	0.74099	AGC		0.572	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		12	39	0	0	0	0.387290	0	12	39				
SYNDIG1	79953	broad.mit.edu	37	20	24523931	24523931	+	Silent	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr20:24523931G>A	ENST00000376862.3	+	2	831	c.198G>A	c.(196-198)agG>agA	p.R66R		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	66					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACAGCAGCAGGAGTGAGCCGA	0.647																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(196-198)agG>agA		synapse differentiation inducing 1							39.0	41.0	40.0					20																	24523931		2203	4300	6503	SO:0001819	synonymous_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523931G>A	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.198G>A	20.37:g.24523931G>A							p.R66R	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	831	+			66					Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	c.198G>A	CCDS13164.1																																																																																				0.647	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		20	51	0	0	0	0.624587	0	20	51				
CALD1	800	broad.mit.edu	37	7	134642982	134642982	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:134642982C>A	ENST00000361675.2	+	11	2231	c.2002C>A	c.(2002-2004)Caa>Aaa	p.Q668K	CALD1_ENST00000393118.2_Missense_Mutation_p.Q433K|CALD1_ENST00000543443.1_Missense_Mutation_p.Q418K|CALD1_ENST00000424922.1_Missense_Mutation_p.Q407K|CALD1_ENST00000417172.1_Missense_Mutation_p.Q413K|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000422748.1_Missense_Mutation_p.Q438K|CALD1_ENST00000361901.2_Missense_Mutation_p.Q413K|CALD1_ENST00000495522.1_Missense_Mutation_p.Q432K|CALD1_ENST00000361388.2_Missense_Mutation_p.Q439K			Q05682	CALD1_HUMAN	caldesmon 1	668	Strong actin-binding. {ECO:0000250}.|Tropomyosin-binding. {ECO:0000255}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ATCGACCCATCAAGCAGCAAT	0.398																																						ENST00000361388.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(1315-1317)Caa>Aaa		caldesmon 1							186.0	181.0	183.0					7																	134642982		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134642982C>A	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.2002C>A	7.37:g.134642982C>A	ENSP00000354826:p.Gln668Lys					CALD1_ENST00000361901.2_Missense_Mutation_p.Q413K|CALD1_ENST00000543443.1_Missense_Mutation_p.Q418K|CALD1_ENST00000417172.1_Missense_Mutation_p.Q413K|CALD1_ENST00000422748.1_Missense_Mutation_p.Q438K|CALD1_ENST00000495522.1_Missense_Mutation_p.Q432K|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000393118.2_Missense_Mutation_p.Q433K|CALD1_ENST00000361675.2_Missense_Mutation_p.Q668K|CALD1_ENST00000424922.1_Missense_Mutation_p.Q407K	p.Q439K	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN			11	1781	+			668					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.1315C>A	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257549	0.22965	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000432646;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.51	5.51	0.81932	.	0.320980	0.21786	N	0.069130	T	0.47097	0.1427	M	0.62723	1.935	0.29019	N	0.886377	P;P;P;P;P;P;P;P;P;P	0.47484	0.871;0.7;0.744;0.871;0.844;0.844;0.844;0.7;0.871;0.896	P;B;B;P;B;B;B;B;P;P	0.49528	0.533;0.307;0.433;0.533;0.307;0.307;0.398;0.307;0.533;0.614	T	0.43065	-0.9414	10	0.10111	T	0.7	-25.2234	14.188	0.65620	0.1862:0.8137:0.0:0.0	.	362;418;438;432;407;433;413;439;668;413	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	K	413;413;439;438;46;668;413;433;407;432;418	ENSP00000398826:Q413K;ENSP00000411476:Q413K;ENSP00000355000:Q439K;ENSP00000395710:Q438K;ENSP00000354826:Q668K;ENSP00000354513:Q413K;ENSP00000376826:Q433K;ENSP00000393621:Q407K;ENSP00000419673:Q432K;ENSP00000445641:Q418K	ENSP00000355000:Q439K	Q	+	1	0	CALD1	134293522	0.733000	0.28132	1.000000	0.80357	0.980000	0.70556	0.603000	0.24149	2.589000	0.87451	0.655000	0.94253	CAA		0.398	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		9	206	1	0	9.70103e-10	0.361761	1.24917e-09	9	206				
COMMD7	149951	broad.mit.edu	37	20	31292271	31292271	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr20:31292271A>C	ENST00000278980.6	-	7	1053	c.448T>G	c.(448-450)Ttg>Gtg	p.L150V	COMMD7_ENST00000446419.2_Missense_Mutation_p.L149V	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	150	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)			breast(1)|endometrium(1)|lung(3)	5						ACTTTCTCCAATTCGCTGCTC	0.373																																						ENST00000446419.1																			0				breast(1)|endometrium(1)|lung(3)	5						c.(445-447)Ttg>Gtg		COMM domain containing 7							52.0	49.0	50.0					20																	31292271		1822	4082	5904	SO:0001583	missense	149951				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding	g.chr20:31292271A>C	AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 92"""	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.448T>G	20.37:g.31292271A>C	ENSP00000278980:p.Leu150Val					COMMD7_ENST00000278980.6_Missense_Mutation_p.L150V	p.L149V	NM_001099339.1	NP_001092809.1	Q86VX2	COMD7_HUMAN			7	1061	-			150			COMM.		A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Missense_Mutation	SNP	ENST00000278980.6	37	c.445T>G	CCDS42864.1	.	.	.	.	.	.	.	.	.	.	a	8.088	0.773947	0.16051	.	.	ENSG00000149600	ENST00000278980;ENST00000446419	T;T	0.11063	2.81;2.81	5.26	-2.83	0.05769	COMM domain (1);	0.273852	0.30410	N	0.009695	T	0.09642	0.0237	L	0.45228	1.405	0.35692	D	0.814898	B;B	0.33637	0.2;0.42	B;B	0.36378	0.061;0.223	T	0.10268	-1.0637	10	0.21014	T	0.42	.	15.0008	0.71469	0.1198:0.0:0.8802:0.0	.	149;150	Q86VX2-2;Q86VX2	.;COMD7_HUMAN	V	150;149	ENSP00000278980:L150V;ENSP00000395339:L149V	ENSP00000278980:L150V	L	-	1	2	COMMD7	30755932	0.988000	0.35896	0.757000	0.31301	0.181000	0.23173	-0.006000	0.12833	-0.783000	0.04534	-1.172000	0.01736	TTG		0.373	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078648.2	NM_053041		6	14	0	0	0	0.217242	0	6	14				
PLEC	5339	broad.mit.edu	37	8	144991470	144991470	+	Silent	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr8:144991470C>T	ENST00000322810.4	-	32	13099	c.12930G>A	c.(12928-12930)gaG>gaA	p.E4310E	PLEC_ENST00000345136.3_Silent_p.E4173E|PLEC_ENST00000354589.3_Silent_p.E4173E|PLEC_ENST00000356346.3_Silent_p.E4159E|PLEC_ENST00000398774.2_Silent_p.E4141E|PLEC_ENST00000436759.2_Silent_p.E4200E|PLEC_ENST00000357649.2_Silent_p.E4177E|PLEC_ENST00000527096.1_Silent_p.E4196E|PLEC_ENST00000354958.2_Silent_p.E4151E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4310	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCACTCCTGCTCGGACAGCT	0.622																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12928-12930)gaG>gaA		plectin							65.0	74.0	71.0					8																	144991470		2150	4236	6386	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991470C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12930G>A	8.37:g.144991470C>T						PLEC_ENST00000398774.2_Silent_p.E4141E|PLEC_ENST00000354958.2_Silent_p.E4151E|PLEC_ENST00000436759.2_Silent_p.E4200E|PLEC_ENST00000356346.3_Silent_p.E4159E|PLEC_ENST00000357649.2_Silent_p.E4177E|PLEC_ENST00000345136.3_Silent_p.E4173E|PLEC_ENST00000354589.3_Silent_p.E4173E|PLEC_ENST00000527096.1_Silent_p.E4196E	p.E4310E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13099	-			4310			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12930G>A	CCDS43772.1																																																																																				0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		25	61	0	0	0	0.639603	0	25	61				
FSIP2	401024	broad.mit.edu	37	2	186673486	186673486	+	Missense_Mutation	SNP	G	G	A	rs200703801		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:186673486G>A	ENST00000424728.1	+	17	19453	c.19453G>A	c.(19453-19455)Gtt>Att	p.V6485I	FSIP2_ENST00000343098.5_Missense_Mutation_p.V6574I			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6485										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAGCTAGACGTTAATAGAAT	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		17038	0.0		0.0	False		,,,				2504	0.001					ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(19720-19722)Gtt>Att		fibrous sheath interacting protein 2							57.0	54.0	55.0					2																	186673486		1819	4063	5882	SO:0001583	missense	401024							g.chr2:186673486G>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19453G>A	2.37:g.186673486G>A	ENSP00000401306:p.Val6485Ile					FSIP2_ENST00000424728.1_Missense_Mutation_p.V6485I	p.V6574I	NM_173651.2	NP_775922.2					17	19720	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.19720G>A		.	.	.	.	.	.	.	.	.	.	G	2.416	-0.334162	0.05278	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.52057	0.68;0.68	5.46	-10.9	0.00192	.	1.602910	0.03348	N	0.195734	T	0.19087	0.0458	N	0.04203	-0.255	0.09310	N	1	.	.	.	.	.	.	T	0.07986	-1.0744	8	0.12430	T	0.62	.	9.7149	0.40268	0.1638:0.1139:0.6211:0.1012	.	.	.	.	I	6574;6485	ENSP00000344403:V6574I;ENSP00000401306:V6485I	ENSP00000344403:V6574I	V	+	1	0	FSIP2	186381731	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.581000	0.05820	-2.111000	0.00836	-1.215000	0.01618	GTT		0.323	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		5	106	0	0	0	0.248553	0	5	106				
PTPRN	5798	broad.mit.edu	37	2	220162639	220162639	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:220162639C>A	ENST00000295718.2	-	13	2095	c.1855G>T	c.(1855-1857)Ggg>Tgg	p.G619W	PTPRN_ENST00000409251.3_Missense_Mutation_p.G590W|PTPRN_ENST00000423636.2_Missense_Mutation_p.G529W|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	619					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCATGGGCCCCCTCAGGCCCC	0.637																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1855-1857)Ggg>Tgg		protein tyrosine phosphatase, receptor type, N							16.0	18.0	17.0					2																	220162639		2193	4287	6480	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162639C>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1855G>T	2.37:g.220162639C>A	ENSP00000295718:p.Gly619Trp					PTPRN_ENST00000409251.3_Missense_Mutation_p.G590W|PTPRN_ENST00000423636.2_Missense_Mutation_p.G529W	p.G619W	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	13	2095	-		Renal(207;0.0474)	619					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1855G>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033733	0.75504	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.04275	3.81;3.67;3.66	4.61	3.73	0.42828	.	0.144833	0.44902	D	0.000418	T	0.16514	0.0397	L	0.58101	1.795	0.58432	D	0.999994	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.972	T	0.00343	-1.1802	10	0.72032	D	0.01	.	12.1998	0.54319	0.0:0.9167:0.0:0.0832	.	590;619	Q6NSL1;Q16849	.;PTPRN_HUMAN	W	590;619;590;529	ENSP00000386638:G590W;ENSP00000295718:G619W;ENSP00000444244:G529W	ENSP00000295718:G619W	G	-	1	0	PTPRN	219870883	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	2.496000	0.45346	1.161000	0.42604	0.655000	0.94253	GGG		0.637	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			8	19	1	0	5.18039e-06	0.278610	6.08696e-06	8	19				
OR2B11	127623	broad.mit.edu	37	1	247614975	247614975	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:247614975G>T	ENST00000318749.6	-	1	333	c.310C>A	c.(310-312)Caa>Aaa	p.Q104K		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACTGCATATTGCACAGTGCAG	0.597																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(310-312)Caa>Aaa		olfactory receptor, family 2, subfamily B, member 11							103.0	95.0	98.0					1																	247614975		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614975G>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.310C>A	1.37:g.247614975G>T	ENSP00000325682:p.Gln104Lys						p.Q104K	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	333	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	104					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.310C>A	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377671	0.42105	.	.	ENSG00000177535	ENST00000318749	T	0.00462	7.26	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000148	T	0.03695	0.0105	H	0.99435	4.565	0.42033	D	0.991033	D	0.89917	1.0	D	0.71184	0.972	T	0.00978	-1.1493	10	0.87932	D	0	.	16.0937	0.81106	0.0:0.0:1.0:0.0	.	104	Q5JQS5	OR2BB_HUMAN	K	104	ENSP00000325682:Q104K	ENSP00000325682:Q104K	Q	-	1	0	OR2B11	245681598	1.000000	0.71417	0.774000	0.31636	0.148000	0.21650	8.459000	0.90367	2.745000	0.94114	0.545000	0.68477	CAA		0.597	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		39	113	1	0	9.85521e-28	0.819951	1.59722e-27	39	113				
SYNJ2	8871	broad.mit.edu	37	6	158483043	158483043	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr6:158483043G>T	ENST00000355585.4	+	8	1049	c.974G>T	c.(973-975)tGc>tTc	p.C325F	SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367122.2_Missense_Mutation_p.C325F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.C325F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	325	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGGGCTTCTTGCCACGCGGGC	0.562																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(973-975)tGc>tTc		synaptojanin 2							135.0	147.0	143.0					6																	158483043		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158483043G>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.974G>T	6.37:g.158483043G>T	ENSP00000347792:p.Cys325Phe					SYNJ2_ENST00000367122.2_Missense_Mutation_p.C325F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.C325F|SYNJ2_ENST00000449859.2_Intron	p.C325F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	8	1049	+			325			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.974G>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	4.043	0.005565	0.07866	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	T;T;T	0.57107	0.42;0.42;0.42	5.12	4.16	0.48862	Synaptojanin, N-terminal (2);	0.381500	0.25663	N	0.029138	T	0.11793	0.0287	N	0.08118	0	0.80722	D	1	B;B;B	0.11235	0.0;0.004;0.001	B;B;B	0.13407	0.002;0.009;0.004	T	0.19484	-1.0304	10	0.10111	T	0.7	.	6.7304	0.23381	0.0:0.1982:0.4879:0.3139	.	325;325;325	E7ER60;O15056;O15056-3	.;SYNJ2_HUMAN;.	F	325	ENSP00000356089:C325F;ENSP00000356088:C325F;ENSP00000347792:C325F	ENSP00000347792:C325F	C	+	2	0	SYNJ2	158403031	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	2.593000	0.46180	2.407000	0.81776	0.456000	0.33151	TGC		0.562	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			14	206	1	0	1.36491e-13	0.435327	1.97387e-13	14	206				
INTS3	65123	broad.mit.edu	37	1	153723708	153723708	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:153723708G>A	ENST00000318967.2	+	7	1290	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	INTS3_ENST00000512605.1_Missense_Mutation_p.R35Q|snoU13_ENST00000458994.1_RNA|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R241Q|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000456435.1_Missense_Mutation_p.R35Q	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	242					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCACTGCTTCGGGAACGGGTG	0.522																																						ENST00000456435.1																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(103-105)cGg>cAg		integrator complex subunit 3							82.0	73.0	76.0					1																	153723708		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153723708G>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.722G>A	1.37:g.153723708G>A	ENSP00000318641:p.Arg241Gln					INTS3_ENST00000435409.2_Missense_Mutation_p.R241Q|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000512605.1_Missense_Mutation_p.R35Q|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Missense_Mutation_p.R241Q	p.R35Q			Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		7	1290	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		242					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.104G>A	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486913	0.96323	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	M	0.87180	2.865	0.58432	D	0.999994	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.67725	0.947;0.953;0.947	T	0.81556	-0.0879	9	0.87932	D	0	.	15.1101	0.72349	0.0:0.0:1.0:0.0	.	35;242;241	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	Q	241;35;241;35	.	ENSP00000318641:R241Q	R	+	2	0	INTS3	151990332	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.844000	0.92147	2.483000	0.83821	0.555000	0.69702	CGG		0.522	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		3	64	0	0	0	0.115264	0	3	64				
OR7D2	162998	broad.mit.edu	37	19	9296949	9296949	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:9296949G>A	ENST00000344248.2	+	1	671	c.492G>A	c.(490-492)atG>atA	p.M164I		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	164					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTCTGATGATGCATCTAATCT	0.453																																						ENST00000344248.2																			0				breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(490-492)atG>atA		olfactory receptor, family 7, subfamily D, member 2							155.0	151.0	152.0					19																	9296949		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296949G>A	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.492G>A	19.37:g.9296949G>A	ENSP00000345563:p.Met164Ile						p.M164I	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	671	+			164					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.492G>A	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	G	6.360	0.434616	0.12045	.	.	ENSG00000188000	ENST00000344248	T	0.00069	8.77	2.1	-3.19	0.05171	GPCR, rhodopsin-like superfamily (1);	1.123280	0.06938	U	0.812354	T	0.00073	0.0002	N	0.12637	0.245	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.12734	-1.0536	10	0.72032	D	0.01	.	3.3843	0.07265	0.4408:0.2116:0.3475:0.0	.	164	Q96RA2	OR7D2_HUMAN	I	164	ENSP00000345563:M164I	ENSP00000345563:M164I	M	+	3	0	OR7D2	9157949	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.316000	0.02710	-0.663000	0.05331	-1.632000	0.00781	ATG		0.453	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			47	196	0	0	0	0.870114	0	47	196				
DNAH3	55567	broad.mit.edu	37	16	20999308	20999308	+	Silent	SNP	A	A	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:20999308A>G	ENST00000261383.3	-	45	6680	c.6681T>C	c.(6679-6681)atT>atC	p.I2227I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2227	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCAGTCAACAATCGAACTGA	0.443																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(6679-6681)atT>atC		dynein, axonemal, heavy chain 3							124.0	112.0	116.0					16																	20999308		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20999308A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6681T>C	16.37:g.20999308A>G						DNAH3_ENST00000415178.1_3'UTR	p.I2227I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	45	6680	-			2227			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.6681T>C	CCDS10594.1																																																																																				0.443	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		15	89	0	0	0	0.479597	0	15	89				
CDR1	1038	broad.mit.edu	37	X	139865791	139865791	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:139865791C>G	ENST00000370532.2	-	1	932	c.741G>C	c.(739-741)tgG>tgC	p.W247C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	247										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAGGTCTTCCAGTCAATCA	0.423																																						ENST00000370532.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(739-741)tgG>tgC		cerebellar degeneration-related protein 1, 34kDa							103.0	102.0	102.0					X																	139865791		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139865791C>G		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.741G>C	X.37:g.139865791C>G	ENSP00000359563:p.Trp247Cys						p.W247C	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	932	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	247					Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.741G>C	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164935	0.38217	.	.	ENSG00000184258	ENST00000370532	.	.	.	3.99	3.1	0.35709	.	.	.	.	.	T	0.43478	0.1249	N	0.08118	0	0.42438	D	0.992706	D	0.69078	0.997	P	0.57468	0.821	T	0.27806	-1.0063	7	.	.	.	.	10.9871	0.47528	0.0:0.812:0.188:0.0	.	247	P51861	CDR1_HUMAN	C	247	.	.	W	-	3	0	CDR1	139693457	0.793000	0.28825	0.151000	0.22473	0.002000	0.02628	2.637000	0.46553	0.771000	0.33359	-0.343000	0.07986	TGG		0.423	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		59	201	0	0	0	0.870114	0	59	201				
PDZD4	57595	broad.mit.edu	37	X	153070051	153070051	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:153070051C>T	ENST00000164640.4	-	8	1258	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	PDZD4_ENST00000544474.1_Missense_Mutation_p.R247H|PDZD4_ENST00000393758.2_Missense_Mutation_p.R281H|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	356						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCACGGTAGCGCTCATACTC	0.672																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1066-1068)cGc>cAc		PDZ domain containing 4							43.0	38.0	40.0					X																	153070051		2202	4300	6502	SO:0001583	missense	57595					cell cortex		g.chrX:153070051C>T	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1067G>A	X.37:g.153070051C>T	ENSP00000164640:p.Arg356His					PDZD4_ENST00000393758.2_Missense_Mutation_p.R281H|PDZD4_ENST00000544474.1_Missense_Mutation_p.R247H	p.R356H	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	1258	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		356					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.1067G>A	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994630	0.54041	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.06849	3.25;3.27;3.48	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	M	0.66297	2.02	0.54753	D	0.999986	D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.991;0.701;0.997;0.999;0.996	T	0.01127	-1.1443	10	0.59425	D	0.04	-28.528	16.4277	0.83824	0.0:1.0:0.0:0.0	.	247;362;356;281;260	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	H	356;281;260;247	ENSP00000164640:R356H;ENSP00000377355:R281H;ENSP00000442033:R247H	ENSP00000164640:R356H	R	-	2	0	PDZD4	152723245	0.991000	0.36638	1.000000	0.80357	0.353000	0.29299	3.819000	0.55686	2.134000	0.65973	0.529000	0.55759	CGC		0.672	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		27	45	0	0	0	0.693898	0	27	45				
CELSR1	9620	broad.mit.edu	37	22	46792575	46792575	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr22:46792575G>A	ENST00000262738.3	-	13	5769	c.5770C>T	c.(5770-5772)Cgc>Tgc	p.R1924C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1924	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.R1924C(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCGGGGGAGCGCACGCAGGCC	0.627																																						ENST00000262738.3																			1	Substitution - Missense(1)	p.R1924C(1)	endometrium(1)	breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(5770-5772)Cgc>Tgc		cadherin, EGF LAG seven-pass G-type receptor 1							44.0	38.0	40.0					22																	46792575		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46792575G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5770C>T	22.37:g.46792575G>A	ENSP00000262738:p.Arg1924Cys						p.R1924C	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	13	5769	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1924			EGF-like 6; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.5770C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897328	0.52121	.	.	ENSG00000075275	ENST00000262738	D	0.91894	-2.93	4.45	4.45	0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.160055	0.42172	U	0.000748	D	0.95799	0.8633	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.67231	0.95;0.836	D	0.96480	0.9355	10	0.72032	D	0.01	.	17.0745	0.86582	0.0:0.0:1.0:0.0	.	245;1924	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	C	1924	ENSP00000262738:R1924C	ENSP00000262738:R1924C	R	-	1	0	CELSR1	45171239	0.997000	0.39634	0.591000	0.28745	0.033000	0.12548	5.985000	0.70556	2.205000	0.71048	0.561000	0.74099	CGC		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		9	25	0	0	0	0.307466	0	9	25				
ACE2	59272	broad.mit.edu	37	X	15618974	15618974	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:15618974T>C	ENST00000252519.3	-	1	163	c.61A>G	c.(61-63)Att>Gtt	p.I21V	ACE2_ENST00000427411.1_Missense_Mutation_p.I21V|GS1-594A7.3_ENST00000421585.1_RNA			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	21					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TGTTCCTCAATGGTGGACTGA	0.453																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(61-63)Att>Gtt		angiotensin I converting enzyme 2	Moexipril(DB00691)						126.0	101.0	110.0					X																	15618974		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15618974T>C	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.61A>G	X.37:g.15618974T>C	ENSP00000252519:p.Ile21Val					ACE2_ENST00000252519.3_Missense_Mutation_p.I21V	p.I21V	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			2	277	-	Hepatocellular(33;0.183)		21					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.61A>G	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.803387	0.00611	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.32515	1.45;1.45	5.71	-3.5	0.04710	.	0.965526	0.08652	N	0.913863	T	0.15825	0.0381	N	0.17594	0.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27123	-1.0083	10	0.33141	T	0.24	-0.1866	7.2163	0.25961	0.0:0.2035:0.4777:0.3188	.	21	Q9BYF1	ACE2_HUMAN	V	21	ENSP00000252519:I21V;ENSP00000389326:I21V	ENSP00000252519:I21V	I	-	1	0	ACE2	15528895	0.003000	0.15002	0.000000	0.03702	0.148000	0.21650	1.305000	0.33493	-0.640000	0.05495	-0.377000	0.06932	ATT		0.453	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			5	136	0	0	0	0.184627	0	5	136				
ADAM15	8751	broad.mit.edu	37	1	155026908	155026908	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:155026908G>T	ENST00000356955.2	+	6	639	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	ADAM15_ENST00000531455.1_Missense_Mutation_p.A190S|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368412.3_Missense_Mutation_p.A180S|ADAM15_ENST00000449910.2_Missense_Mutation_p.A180S|ADAM15_ENST00000355956.2_Missense_Mutation_p.A180S|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000447332.3_Missense_Mutation_p.A164S|ADAM15_ENST00000271836.6_Missense_Mutation_p.A180S|ADAM15_ENST00000359280.4_Missense_Mutation_p.A180S|ADAM15_ENST00000360674.4_Missense_Mutation_p.A180S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	180					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCACACCTGTGCCCTGAGCTG	0.622																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(538-540)Gcc>Tcc		ADAM metallopeptidase domain 15							57.0	62.0	60.0					1																	155026908		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155026908G>T	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.538G>T	1.37:g.155026908G>T	ENSP00000349436:p.Ala180Ser					ADAM15_ENST00000360674.4_Missense_Mutation_p.A180S|ADAM15_ENST00000271836.6_Missense_Mutation_p.A180S|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.A180S|ADAM15_ENST00000359280.4_Missense_Mutation_p.A180S|ADAM15_ENST00000368412.3_Missense_Mutation_p.A180S|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000355956.2_Missense_Mutation_p.A180S|ADAM15_ENST00000447332.3_Missense_Mutation_p.A164S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.A190S	p.A180S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		6	639	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		180					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.538G>T	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	G	1.797	-0.478082	0.04414	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.00832	5.81;5.81;5.8;5.73;5.64;5.8;5.78;5.81	5.09	0.888	0.19206	.	0.918207	0.09034	N	0.858322	T	0.00300	0.0009	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.14805	0.003;0.006;0.005;0.004;0.011;0.005;0.005;0.005;0.004;0.006	B;B;B;B;B;B;B;B;B;B	0.17722	0.005;0.005;0.005;0.019;0.019;0.012;0.012;0.012;0.012;0.008	T	0.40021	-0.9585	10	0.44086	T	0.13	.	4.0221	0.09670	0.2603:0.0:0.5754:0.1643	.	190;197;164;180;180;180;180;180;180;180	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	S	180;180;180;180;180;180;180;190	ENSP00000349436:A180S;ENSP00000403843:A180S;ENSP00000352226:A180S;ENSP00000353892:A180S;ENSP00000357397:A180S;ENSP00000348227:A180S;ENSP00000271836:A180S;ENSP00000432927:A190S	ENSP00000271836:A180S	A	+	1	0	ADAM15	153293532	0.014000	0.17966	0.003000	0.11579	0.068000	0.16541	0.313000	0.19415	0.010000	0.14839	-0.459000	0.05422	GCC		0.622	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		42	133	1	0	2.13384e-23	0.870114	3.34301e-23	42	133				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	25	0	0	0	0.150653	0	3	25				
PTAFR	5724	broad.mit.edu	37	1	28477382	28477382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:28477382C>A	ENST00000373857.3	-	2	785	c.151G>T	c.(151-153)Gag>Tag	p.E51*	PTAFR_ENST00000539896.1_Nonsense_Mutation_p.E51*|PTAFR_ENST00000305392.3_Nonsense_Mutation_p.E51*	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	51					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTTTATCTCATTGAATTTC	0.483																																						ENST00000373857.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15						c.(151-153)Gag>Tag		platelet-activating factor receptor							77.0	73.0	75.0					1																	28477382		2203	4300	6503	SO:0001587	stop_gained	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28477382C>A	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.151G>T	1.37:g.28477382C>A	ENSP00000362965:p.Glu51*					PTAFR_ENST00000305392.3_Nonsense_Mutation_p.E51*|PTAFR_ENST00000539896.1_Nonsense_Mutation_p.E51*	p.E51*	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	785	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	51					A3KMC8|A8K2H5	Nonsense_Mutation	SNP	ENST00000373857.3	37	c.151G>T	CCDS318.1	.	.	.	.	.	.	.	.	.	.	C	42	9.261005	0.99117	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000301974:E51X	E	-	1	0	PTAFR	28349969	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.818000	0.86416	2.699000	0.92147	0.655000	0.94253	GAG		0.483	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		3	28	1	0	0.004672	0.115264	0.00482602	3	28				
NBPF12	149013	broad.mit.edu	37	1	146397414	146397414	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:146397414C>A	ENST00000442909.2	+	6	1067	c.231C>A	c.(229-231)ttC>ttA	p.F77L	NBPF12_ENST00000446760.2_Missense_Mutation_p.F77L|NBPF12_ENST00000309471.8_Intron			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						AGCGACAGTTCAAGGAGGAGA	0.517																																						ENST00000442909.2																			0				ovary(2)	2						c.(229-231)ttC>ttA		neuroblastoma breakpoint family, member 12																																				SO:0001583	missense	149013							g.chr1:146397414C>A	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.231C>A	1.37:g.146397414C>A	ENSP00000391116:p.Phe77Leu					NBPF12_ENST00000446760.2_Missense_Mutation_p.F77L|NBPF12_ENST00000309471.8_Intron	p.F77L							6	1067	+								O95877	Missense_Mutation	SNP	ENST00000442909.2	37	c.231C>A		.	.	.	.	.	.	.	.	.	.	N	4.880	0.163503	0.09287	.	.	ENSG00000186275	ENST00000446760;ENST00000442909	T;T	0.03065	4.16;4.06	1.23	-2.47	0.06442	.	.	.	.	.	T	0.00967	0.0032	L	0.45228	1.405	0.09310	N	1	.	.	.	.	.	.	T	0.45498	-0.9257	7	0.13108	T	0.6	.	4.9448	0.13984	0.0:0.4148:0.0:0.5852	.	.	.	.	L	77	ENSP00000396525:F77L;ENSP00000391116:F77L	ENSP00000391116:F77L	F	+	3	2	NBPF12	144766749	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.444000	0.01012	-0.760000	0.04677	0.369000	0.22263	TTC		0.517	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	XM_003119146		43	211	1	0	2.68985e-26	0.870114	4.28552e-26	43	211				
NLRP14	338323	broad.mit.edu	37	11	7064624	7064624	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:7064624A>C	ENST00000299481.4	+	4	1713	c.1367A>C	c.(1366-1368)gAt>gCt	p.D456A		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	456	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACTCAATCTGATGTCTCTAGT	0.418																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1366-1368)gAt>gCt		NLR family, pyrin domain containing 14							119.0	123.0	121.0					11																	7064624		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064624A>C	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1367A>C	11.37:g.7064624A>C	ENSP00000299481:p.Asp456Ala						p.D456A	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1713	+			456			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1367A>C	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	8.161	0.789565	0.16258	.	.	ENSG00000158077	ENST00000299481	D	0.82711	-1.64	4.34	0.382	0.16234	.	0.423579	0.20116	N	0.098901	T	0.71728	0.3374	L	0.51853	1.615	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.61826	-0.6983	10	0.66056	D	0.02	.	0.6035	0.00748	0.4617:0.1762:0.1922:0.1699	.	456	Q86W24	NAL14_HUMAN	A	456	ENSP00000299481:D456A	ENSP00000299481:D456A	D	+	2	0	NLRP14	7021200	0.987000	0.35691	0.005000	0.12908	0.073000	0.16967	1.314000	0.33597	-0.032000	0.13758	-0.290000	0.09829	GAT		0.418	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		25	118	0	0	0	0.681144	0	25	118				
LACC1	144811	broad.mit.edu	37	13	44456457	44456457	+	Silent	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr13:44456457G>T	ENST00000441843.1	+	3	1184	c.699G>T	c.(697-699)gcG>gcT	p.A233A	LACC1_ENST00000325686.6_Silent_p.A233A|CCDC122_ENST00000476570.2_5'Flank|CCDC122_ENST00000444614.3_5'Flank	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	233																	GTAGGTTGGCGAATGCTGCAG	0.338																																						ENST00000441843.1																			0											c.(697-699)gcG>gcT		laccase (multicopper oxidoreductase) domain containing 1							82.0	83.0	83.0					13																	44456457		2203	4300	6503	SO:0001819	synonymous_variant	144811							g.chr13:44456457G>T	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.699G>T	13.37:g.44456457G>T						LACC1_ENST00000325686.6_Silent_p.A233A	p.A233A	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN			3	1184	+			233					A2A3Z6|Q8N8X5	Silent	SNP	ENST00000441843.1	37	c.699G>T	CCDS9391.1																																																																																				0.338	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		4	48	1	0	1.23904e-05	0.184627	1.38654e-05	4	48				
PLEC	5339	broad.mit.edu	37	8	144991469	144991469	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr8:144991469G>A	ENST00000322810.4	-	32	13100	c.12931C>T	c.(12931-12933)Cag>Tag	p.Q4311*	PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q4174*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q4174*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q4160*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q4142*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q4201*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q4178*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q4197*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q4152*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4311	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGCACTCCTGCTCGGACAGC	0.617																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12931-12933)Cag>Tag		plectin							65.0	74.0	71.0					8																	144991469		2147	4234	6381	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991469G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12931C>T	8.37:g.144991469G>A	ENSP00000323856:p.Gln4311*					PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q4142*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q4152*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q4201*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q4160*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q4178*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q4174*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q4174*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q4197*	p.Q4311*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13100	-			4311			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.12931C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	54	22.813701	0.99951	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	5.14	5.14	0.70334	.	0.000000	0.64402	U	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.4072	0.90539	0.0:0.0:1.0:0.0	.	.	.	.	X	4174;4178;4174;4142;4311;4152;4160;4201;4197	.	ENSP00000323856:Q4311X	Q	-	1	0	PLEC	145063457	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.567000	0.98161	2.679000	0.91253	0.549000	0.68633	CAG		0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		26	61	0	0	0	0.654019	0	26	61				
TTN	7273	broad.mit.edu	37	2	179433734	179433734	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:179433734C>A	ENST00000591111.1	-	276	72426	c.72202G>T	c.(72202-72204)Gat>Tat	p.D24068Y	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16769Y|TTN_ENST00000342175.6_Missense_Mutation_p.D16836Y|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D25709Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23141Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16644Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24068	Fibronectin type-III 75. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTGACATCATCCACAGTT	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.(77125-77127)Gat>Tat		titin							198.0	186.0	190.0					2																	179433734		1996	4184	6180	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433734C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72202G>T	2.37:g.179433734C>A	ENSP00000465570:p.Asp24068Tyr					TTN_ENST00000342175.6_Missense_Mutation_p.D16836Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23141Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24068Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16644Y|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16769Y	p.D25709Y	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)		326	77349	-			24068			Ig-like 125.		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.77125G>T		.	.	.	.	.	.	.	.	.	.	C	13.09	2.133889	0.37630	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.83	5.83	0.93111	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82495	0.5049	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.85519	0.1202	9	0.87932	D	0	.	20.111	0.97911	0.0:1.0:0.0:0.0	.	16644;16769;16836;24068	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	23141;16644;16836;16769;16642	ENSP00000343764:D23141Y;ENSP00000434586:D16644Y;ENSP00000340554:D16836Y;ENSP00000352154:D16769Y	ENSP00000340554:D16836Y	D	-	1	0	TTN	179141980	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.747000	0.94245	0.650000	0.86243	GAT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	137	1	0	4.87955e-14	0.693898	7.16685e-14	29	137				
AZU1	566	broad.mit.edu	37	19	831827	831827	+	Nonsense_Mutation	SNP	C	C	T	rs112572343		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:831827C>T	ENST00000233997.2	+	5	727	c.706C>T	c.(706-708)Cga>Tga	p.R236*		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	236	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGCGCTCTTCCGAGACTGGAT	0.701																																						ENST00000233997.2																			0				NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10						c.(706-708)Cga>Tga		azurocidin 1							34.0	39.0	37.0					19																	831827		2202	4296	6498	SO:0001587	stop_gained	566				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	g.chr19:831827C>T	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"""cationic antimicrobial protein 37"", ""heparin-binding protein"", ""neutrophil azurocidin"""	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.706C>T	19.37:g.831827C>T	ENSP00000233997:p.Arg236*						p.R236*	NM_001700.3	NP_001691.1	P20160	CAP7_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)	5	727	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	236			Peptidase S1.		P80014|Q52LG4|Q9UCM1|Q9UCT5	Nonsense_Mutation	SNP	ENST00000233997.2	37	c.706C>T	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781723	0.31502	.	.	ENSG00000172232	ENST00000233997	.	.	.	1.86	0.752	0.18398	.	.	.	.	.	.	.	.	.	.	.	0.42144	D	0.991527	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	5.3808	0.16189	0.3346:0.6654:0.0:0.0	.	.	.	.	X	236	.	ENSP00000233997:R236X	R	+	1	2	AZU1	782827	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.108000	0.10857	0.332000	0.23536	0.555000	0.69702	CGA		0.701	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		8	90	0	0	0	0.335167	0	8	90				
AOC2	314	broad.mit.edu	37	17	41002100	41002100	+	Splice_Site	SNP	A	A	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:41002100A>G	ENST00000253799.3	+	4	2033	c.2006A>G	c.(2005-2007)gAt>gGt	p.D669G	AOC2_ENST00000452774.2_Splice_Site_p.D642G|AOC3_ENST00000308423.2_5'Flank	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	669					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.D669V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTCTTGCAGGATCTGGTGGCT	0.562																																						ENST00000253799.3																			1	Substitution - Missense(1)	p.D669V(1)	NS(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.e4-1		amine oxidase, copper containing 2 (retina-specific)							101.0	97.0	98.0					17																	41002100		2203	4300	6503	SO:0001630	splice_region_variant	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41002100A>G	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.2005-1A>G	17.37:g.41002100A>G						AOC2_ENST00000452774.2_Splice_Site_p.D642_splice	p.D669_splice	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	2033	+		Breast(137;0.000143)	669					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Splice_Site	SNP	ENST00000253799.3	37	c.2004_splice	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027459	0.75390	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.15139	2.45;2.45	5.19	4.12	0.48240	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.47893	0.1470	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54768	-0.8244	10	0.87932	D	0	-23.4195	10.6541	0.45665	0.9246:0.0:0.0754:0.0	.	669;642	O75106;O75106-2	AOC2_HUMAN;.	G	669;642	ENSP00000253799:D669G;ENSP00000406134:D642G	ENSP00000253799:D669G	D	+	2	0	AOC2	38255626	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.148000	0.71788	0.832000	0.34804	0.459000	0.35465	GAT		0.562	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158	Missense_Mutation	128	92	0	0	0	0.870114	0	128	92				
FAM103A1	83640	broad.mit.edu	37	15	83657865	83657865	+	Missense_Mutation	SNP	G	G	A	rs150238339		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:83657865G>A	ENST00000304191.3	+	3	316	c.95G>A	c.(94-96)cGc>cAc	p.R32H	RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000538348.2_Silent_p.G137G	NM_031452.3	NP_113640.1	Q9BTL3	RAM_HUMAN	family with sequence similarity 103, member A1	32	Interaction with RNMT.				7-methylguanosine mRNA capping (GO:0006370)|methylation (GO:0032259)|recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex (GO:0036031)	mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			prostate(1)	1						TACCTGAAACGCCCTCCTGAG	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		15950	0.0		0.001	False		,,,				2504	0.0					ENST00000304191.3																			0				prostate(1)	1						c.(94-96)cGc>cAc		family with sequence similarity 103, member A1		G	,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	49.0	51.0	50.0		411,95	2.7	1.0	15	dbSNP_134	50	22,8572	14.6+/-50.1	0,22,4275	no	coding-synonymous,missense	FAM103A1,C15orf40	NM_001160116.1,NM_031452.2	,29	0,23,6476	AA,AG,GG		0.256,0.0227,0.177	,benign	137/150,32/119	83657865	23,12975	2202	4297	6499	SO:0001583	missense	83640							g.chr15:83657865G>A	CR597724	CCDS10321.1	15q25.2	2012-06-13			ENSG00000169612	ENSG00000169612			31022	protein-coding gene	gene with protein product	"""RNMT-activating mini protein"""	614547				22099306	Standard	NM_031452		Approved	HsT19360, C15orf18, MGC2560, RAM	uc002bjl.2	Q9BTL3	OTTHUMG00000147357	ENST00000304191.3:c.95G>A	15.37:g.83657865G>A	ENSP00000307181:p.Arg32His					C15orf40_ENST00000538348.2_Silent_p.G137G|RP11-382A20.5_ENST00000566841.1_RNA	p.R32H	NM_031452.3	NP_113640.1	Q9BTL3	F103A_HUMAN			3	316	+			32					Q2M1J8	Missense_Mutation	SNP	ENST00000304191.3	37	c.95G>A	CCDS10321.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.24	2.773689	0.49786	2.27E-4	0.00256	ENSG00000169612	ENST00000304191	.	.	.	5.71	2.72	0.32119	.	0.058637	0.64402	D	0.000001	T	0.45458	0.1343	L	0.48362	1.52	0.80722	D	1	B	0.31100	0.308	B	0.26202	0.067	T	0.41161	-0.9524	9	0.52906	T	0.07	-2.2431	8.2725	0.31853	0.1376:0.0:0.7362:0.1263	.	32	Q9BTL3	F103A_HUMAN	H	32	.	ENSP00000307181:R32H	R	+	2	0	FAM103A1	81448869	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.913000	0.56394	0.728000	0.32382	0.655000	0.94253	CGC		0.428	FAM103A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304001.1	NM_031452		7	66	0	0	0	0.248553	0	7	66				
PSG7	5676	broad.mit.edu	37	19	43439634	43439634	+	RNA	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:43439634C>A	ENST00000406070.2	-	0	448				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GTGTAGGATCCTGTGTCTTCC	0.458																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							340.0	319.0	326.0					19																	43439634		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43439634C>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439634C>A						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	448	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.458	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		91	318	1	0	3.29526e-42	0.870114	5.43429e-42	91	318				
KHK	3795	broad.mit.edu	37	2	27317365	27317365	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:27317365G>A	ENST00000260599.6	+	3	743	c.230G>A	c.(229-231)cGc>cAc	p.R77H	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Intron	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	77					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGACCTCCGCCGCTATTCT	0.597																																						ENST00000260599.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(229-231)cGc>cAc		ketohexokinase (fructokinase)							89.0	88.0	89.0					2																	27317365		2203	4300	6503	SO:0001583	missense	3795				fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	g.chr2:27317365G>A		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.230G>A	2.37:g.27317365G>A	ENSP00000260599:p.Arg77His					KHK_ENST00000260598.5_Intron|KHK_ENST00000490823.1_3'UTR	p.R77H	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN			3	743	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		77					Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	c.230G>A	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540533	0.45176	.	.	ENSG00000138030	ENST00000260599;ENST00000429697	T;T	0.78126	-1.15;-1.15	5.63	4.75	0.60458	Carbohydrate/purine kinase (1);	0.245199	0.37761	N	0.001949	T	0.71367	0.3331	L	0.58428	1.81	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.06405	0.002;0.002	T	0.65134	-0.6242	10	0.23891	T	0.37	-9.1514	11.5715	0.50836	0.0859:0.0:0.9141:0.0	.	77;77	Q6IBK2;P50053	.;KHK_HUMAN	H	77	ENSP00000260599:R77H;ENSP00000404741:R77H	ENSP00000260599:R77H	R	+	2	0	KHK	27170869	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.847000	0.48270	2.649000	0.89929	0.561000	0.74099	CGC		0.597	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			19	79	0	0	0	0.539581	0	19	79				
HERC1	8925	broad.mit.edu	37	15	63961829	63961829	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:63961829G>T	ENST00000443617.2	-	40	8201	c.8114C>A	c.(8113-8115)tCt>tAt	p.S2705Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2705					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGGTAACGAAGATATTGGAGG	0.458																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(8113-8115)tCt>tAt		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							153.0	158.0	157.0					15																	63961829		1955	4154	6109	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63961829G>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8114C>A	15.37:g.63961829G>T	ENSP00000390158:p.Ser2705Tyr						p.S2705Y	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			40	8201	-			2705					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.8114C>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882565	0.72294	.	.	ENSG00000103657	ENST00000443617	T	0.25414	1.8	5.59	5.59	0.84812	.	0.081755	0.50627	D	0.000111	T	0.26195	0.0639	N	0.19112	0.55	0.58432	D	0.999999	P	0.48407	0.91	P	0.46208	0.507	T	0.03249	-1.1056	10	0.72032	D	0.01	.	19.5944	0.95530	0.0:0.0:1.0:0.0	.	2705	Q15751	HERC1_HUMAN	Y	2705	ENSP00000390158:S2705Y	ENSP00000390158:S2705Y	S	-	2	0	HERC1	61748882	1.000000	0.71417	0.984000	0.44739	0.734000	0.41952	9.229000	0.95273	2.627000	0.88993	0.563000	0.77884	TCT		0.458	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		14	128	1	0	9.31168e-06	0.435327	1.05458e-05	14	128				
CXorf22	170063	broad.mit.edu	37	X	35993323	35993323	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:35993323C>A	ENST00000297866.5	+	14	2380	c.2314C>A	c.(2314-2316)Cat>Aat	p.H772N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	772										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCATCTACTTCATGTTATTAA	0.328																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2314-2316)Cat>Aat		chromosome X open reading frame 22							106.0	96.0	99.0					X																	35993323		2202	4295	6497	SO:0001583	missense	170063							g.chrX:35993323C>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2314C>A	X.37:g.35993323C>A	ENSP00000297866:p.His772Asn						p.H772N	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			14	2380	+			772					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2314C>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417679	0.25552	.	.	ENSG00000165164	ENST00000297866	T	0.14266	2.52	5.52	4.63	0.57726	.	0.328662	0.34110	N	0.004259	T	0.17066	0.0410	M	0.74881	2.28	0.18873	N	0.999983	P	0.39624	0.681	B	0.37692	0.256	T	0.12863	-1.0531	10	0.17369	T	0.5	-21.6444	12.1871	0.54245	0.1717:0.8283:0.0:0.0	.	772	Q6ZTR5	CX022_HUMAN	N	772	ENSP00000297866:H772N	ENSP00000297866:H772N	H	+	1	0	CXorf22	35903244	0.989000	0.36119	0.058000	0.19502	0.046000	0.14306	3.189000	0.50965	1.030000	0.39839	0.544000	0.68410	CAT		0.328	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		30	134	1	0	7.01153e-11	0.717897	9.28288e-11	30	134				
ATR	545	broad.mit.edu	37	3	142177883	142177883	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:142177883C>T	ENST00000350721.4	-	44	7541	c.7420G>A	c.(7420-7422)Gga>Aga	p.G2474R	ATR_ENST00000383101.3_Missense_Mutation_p.G2410R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2474	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGACGGTCTCCAAGCCCCAGA	0.373								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7420-7422)Gga>Aga	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							86.0	83.0	84.0					3																	142177883		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142177883C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7420G>A	3.37:g.142177883C>T	ENSP00000343741:p.Gly2474Arg					ATR_ENST00000383101.3_Missense_Mutation_p.G2410R	p.G2474R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			44	7541	-			2474			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.7420G>A	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.803057|4.803057	0.90623|0.90623	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	D;D|.	0.83755|.	-1.76;-1.76|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.90310|.	0.6969|.	H|H	0.97983|0.97983	4.12|4.12	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|.	0.94220|.	0.7466|.	10|.	0.87932|.	D|.	0|.	-5.7973|-5.7973	17.8963|17.8963	0.88890|0.88890	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2474|.	Q13535|.	ATR_HUMAN|.	R|X	2474;2410|320	ENSP00000343741:G2474R;ENSP00000372581:G2410R|.	ENSP00000343741:G2474R|.	G|W	-|-	1|2	0|0	ATR|ATR	143660573|143660573	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.776000|7.776000	0.85560|0.85560	2.308000|2.308000	0.77769|0.77769	0.555000|0.555000	0.69702|0.69702	GGA|TGG		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		27	57	0	0	0	0.681144	0	27	57				
SIRT7	51547	broad.mit.edu	37	17	79875967	79875967	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:79875967G>A	ENST00000328666.6	-	1	103	c.41C>T	c.(40-42)gCg>gTg	p.A14V		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	14	Arg-rich.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GACCCGCTCCGCCGCTTTGCG	0.776																																						ENST00000328666.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(40-42)gCg>gTg		sirtuin 7							11.0	14.0	13.0					17																	79875967		1639	3504	5143	SO:0001583	missense	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79875967G>A	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.41C>T	17.37:g.79875967G>A	ENSP00000329466:p.Ala14Val						p.A14V	NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		1	103	-	all_neural(118;0.0878)|Ovarian(332;0.12)		14			Arg-rich.		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	ENST00000328666.6	37	c.41C>T	CCDS11792.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587680	0.46110	.	.	ENSG00000187531	ENST00000328666	T	0.30981	1.51	3.51	2.54	0.30619	.	0.928272	0.09056	N	0.855112	T	0.21550	0.0519	L	0.38175	1.15	0.80722	D	1	P	0.35745	0.518	B	0.23716	0.048	T	0.03148	-1.1067	10	0.42905	T	0.14	-8.5118	9.6626	0.39965	0.1047:0.0:0.8953:0.0	.	14	Q9NRC8	SIRT7_HUMAN	V	14	ENSP00000329466:A14V	ENSP00000329466:A14V	A	-	2	0	SIRT7	77469259	0.984000	0.35163	0.295000	0.24960	0.013000	0.08279	1.453000	0.35167	0.679000	0.31345	0.430000	0.28490	GCG		0.776	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		30	16	0	0	0	0.760397	0	30	16				
ZNF479	90827	broad.mit.edu	37	7	57188556	57188556	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:57188556T>G	ENST00000331162.4	-	5	836	c.566A>C	c.(565-567)aAa>aCa	p.K189T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTGCCATATTTGTTACATTT	0.299																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(565-567)aAa>aCa		zinc finger protein 479							58.0	55.0	56.0					7																	57188556		1940	4159	6099	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188556T>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.566A>C	7.37:g.57188556T>G	ENSP00000333776:p.Lys189Thr						p.K189T	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	836	-			189						Missense_Mutation	SNP	ENST00000331162.4	37	c.566A>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	7.167	0.586836	0.13749	.	.	ENSG00000185177	ENST00000331162	T	0.36157	1.27	0.946	0.946	0.19549	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21761	0.0524	L	0.28694	0.88	0.20196	N	0.999927	P	0.36282	0.546	B	0.30401	0.115	T	0.14309	-1.0477	9	0.87932	D	0	.	5.7317	0.18042	0.0:0.0:0.0:1.0	.	189	Q96JC4	ZN479_HUMAN	T	189	ENSP00000333776:K189T	ENSP00000333776:K189T	K	-	2	0	ZNF479	57192498	0.008000	0.16893	0.042000	0.18584	0.040000	0.13550	0.838000	0.27572	0.339000	0.23719	0.329000	0.21502	AAA		0.299	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		10	41	0	0	0	0.457914	0	10	41				
WASF2	10163	broad.mit.edu	37	1	27745564	27745564	+	Silent	SNP	T	T	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:27745564T>C	ENST00000430629.2	-	3	371	c.156A>G	c.(154-156)ggA>ggG	p.G52G	WASF2_ENST00000536657.1_Silent_p.G52G	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	52					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TAAAGAGCTCTCCAAAAATGT	0.453																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(154-156)ggA>ggG		WAS protein family, member 2							94.0	96.0	95.0					1																	27745564		2203	4300	6503	SO:0001819	synonymous_variant	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27745564T>C	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.156A>G	1.37:g.27745564T>C						WASF2_ENST00000536657.1_Silent_p.G52G	p.G52G	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	3	371	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	52					B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	c.156A>G	CCDS304.1																																																																																				0.453	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		36	52	0	0	0	0.812448	0	36	52				
SYNE2	23224	broad.mit.edu	37	14	64445691	64445691	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr14:64445691G>T	ENST00000344113.4	+	14	1740	c.1528G>T	c.(1528-1530)Ggg>Tgg	p.G510W	SYNE2_ENST00000554584.1_Missense_Mutation_p.G510W|SYNE2_ENST00000358025.3_Missense_Mutation_p.G510W|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	510					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CATTAAATATGGGAGCAGAGA	0.358																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(1528-1530)Ggg>Tgg		spectrin repeat containing, nuclear envelope 2							122.0	116.0	118.0					14																	64445691		1839	4085	5924	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64445691G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1528G>T	14.37:g.64445691G>T	ENSP00000341781:p.Gly510Trp					SYNE2_ENST00000554584.1_Missense_Mutation_p.G510W|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.G510W	p.G510W	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	14	1758	+			510					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.1528G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994960	0.54041	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.63417	0.29;0.29;-0.04	5.94	5.94	0.96194	.	0.000000	0.56097	D	0.000036	T	0.79470	0.4451	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.80294	-0.1443	10	0.87932	D	0	.	18.1434	0.89647	0.0:0.0:1.0:0.0	.	510;510	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	W	510	ENSP00000350719:G510W;ENSP00000341781:G510W;ENSP00000452570:G510W	ENSP00000261678:G510W	G	+	1	0	SYNE2	63515444	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.195000	0.72088	2.812000	0.96745	0.557000	0.71058	GGG		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		11	105	1	0	2.27111e-07	0.411799	2.77252e-07	11	105				
ANKRD27	84079	broad.mit.edu	37	19	33149883	33149883	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:33149883G>T	ENST00000306065.4	-	2	197	c.39C>A	c.(37-39)ttC>ttA	p.F13L	ANKRD27_ENST00000587352.1_Missense_Mutation_p.F13L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	13					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGCCAGATAGAAAGGATTTT	0.498																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(37-39)ttC>ttA		ankyrin repeat domain 27 (VPS9 domain)							92.0	87.0	89.0					19																	33149883		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33149883G>T	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.39C>A	19.37:g.33149883G>T	ENSP00000304292:p.Phe13Leu					ANKRD27_ENST00000587352.1_Missense_Mutation_p.F13L|ANKRD27_ENST00000586693.2_5'UTR	p.F13L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			2	197	-	Esophageal squamous(110;0.137)		13					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.39C>A	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114514	0.77210	.	.	ENSG00000105186	ENST00000306065	T	0.73469	-0.75	5.53	4.44	0.53790	.	0.000000	0.56097	D	0.000032	D	0.83073	0.5175	M	0.73962	2.25	0.36236	D	0.852938	D	0.89917	1.0	D	0.83275	0.996	D	0.86369	0.1722	10	0.87932	D	0	-32.648	7.8589	0.29499	0.1732:0.0:0.8268:0.0	.	13	Q96NW4	ANR27_HUMAN	L	13	ENSP00000304292:F13L	ENSP00000304292:F13L	F	-	3	2	ANKRD27	37841723	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.149000	0.42244	2.607000	0.88179	0.573000	0.79308	TTC		0.498	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		4	64	1	0	0.150653	0.150653	0.152273	4	64				
VWF	7450	broad.mit.edu	37	12	6094833	6094833	+	Splice_Site	SNP	T	T	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr12:6094833T>C	ENST00000261405.5	-	39	7053		c.e39-2			NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTCCAGGAACTGAGGGCAAAG	0.627																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.e39-2		von Willebrand factor	Antihemophilic Factor(DB00025)						44.0	42.0	43.0					12																	6094833		2203	4300	6503	SO:0001630	splice_region_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6094833T>C		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6799-2A>G	12.37:g.6094833T>C								NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			39	7053	-								Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37		CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.558276	0.65538	.	.	ENSG00000110799	ENST00000261405	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9439	0.64073	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VWF	5965094	1.000000	0.71417	0.993000	0.49108	0.715000	0.41141	6.698000	0.74608	1.900000	0.55004	0.454000	0.30748	.		0.627	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Intron	8	25	0	0	0	0.307466	0	8	25				
THNSL1	79896	broad.mit.edu	37	10	25313297	25313297	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:25313297C>T	ENST00000524413.1	+	3	1492	c.1145C>T	c.(1144-1146)aCa>aTa	p.T382I	THNSL1_ENST00000376356.4_Missense_Mutation_p.T382I			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	382						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	TCAGGAGACACAGGGAGTGCA	0.358																																						ENST00000524413.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(1144-1146)aCa>aTa		threonine synthase-like 1 (S. cerevisiae)	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						102.0	101.0	102.0					10																	25313297		2203	4300	6503	SO:0001583	missense	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25313297C>T	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1145C>T	10.37:g.25313297C>T	ENSP00000434887:p.Thr382Ile					THNSL1_ENST00000376356.4_Missense_Mutation_p.T382I	p.T382I			Q8IYQ7	THNS1_HUMAN			3	1492	+			382					B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	c.1145C>T	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201680	0.58234	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.23348	1.91;1.91	5.71	4.81	0.61882	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.053127	0.85682	N	0.000000	T	0.65144	0.2663	H	0.96720	3.87	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	T	0.78388	-0.2223	10	0.87932	D	0	-29.7981	14.5712	0.68213	0.0:0.9298:0.0:0.0702	.	382	Q8IYQ7	THNS1_HUMAN	I	382	ENSP00000434887:T382I;ENSP00000365534:T382I	ENSP00000365534:T382I	T	+	2	0	THNSL1	25353303	1.000000	0.71417	0.958000	0.39756	0.985000	0.73830	7.293000	0.78740	1.410000	0.46936	0.650000	0.86243	ACA		0.358	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		20	94	0	0	0	0.608945	0	20	94				
SLITRK6	84189	broad.mit.edu	37	13	86369824	86369824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr13:86369824C>A	ENST00000400286.2	-	2	1418	c.820G>T	c.(820-822)Gaa>Taa	p.E274*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	274					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCATGTTCTTCATACACTGGT	0.393																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(820-822)Gaa>Taa		SLIT and NTRK-like family, member 6							136.0	121.0	125.0					13																	86369824		1919	4137	6056	SO:0001587	stop_gained	84189					integral to membrane		g.chr13:86369824C>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.820G>T	13.37:g.86369824C>A	ENSP00000383143:p.Glu274*						p.E274*	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1418	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		274					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Nonsense_Mutation	SNP	ENST00000400286.2	37	c.820G>T	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	41	8.694067	0.98918	.	.	ENSG00000184564	ENST00000400286	.	.	.	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-13.9655	17.8962	0.88888	0.0:1.0:0.0:0.0	.	.	.	.	X	274	.	ENSP00000383143:E274X	E	-	1	0	SLITRK6	85267825	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	4.581000	0.60949	2.827000	0.97445	0.650000	0.86243	GAA		0.393	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		30	47	1	0	3.73988e-18	0.706142	5.67015e-18	30	47				
GP2	2813	broad.mit.edu	37	16	20334206	20334206	+	Missense_Mutation	SNP	C	C	T	rs143098544		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:20334206C>T	ENST00000381362.4	-	5	716	c.640G>A	c.(640-642)Gac>Aac	p.D214N	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.D67N|GP2_ENST00000341642.5_Missense_Mutation_p.D64N|GP2_ENST00000302555.5_Missense_Mutation_p.D211N	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	214	EGF-like.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTATTGAGGTCCTGTCTGCAG	0.577																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(631-633)Gac>Aac		glycoprotein 2 (zymogen granule membrane)							98.0	75.0	83.0					16																	20334206		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20334206C>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.640G>A	16.37:g.20334206C>T	ENSP00000370767:p.Asp214Asn					GP2_ENST00000341642.5_Missense_Mutation_p.D64N|GP2_ENST00000381360.5_Missense_Mutation_p.D67N|GP2_ENST00000381362.4_Missense_Mutation_p.D214N|GP2_ENST00000573897.1_5'UTR	p.D211N			P55259	GP2_HUMAN			4	780	-			214			EGF-like.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.631G>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	5.202	0.222822	0.09863	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.99409	-5.85;-5.85;-5.85;-5.85	4.88	0.394	0.16299	.	.	.	.	.	D	0.97923	0.9317	L	0.59436	1.845	0.09310	N	1	B;B;B;B	0.20887	0.004;0.049;0.047;0.005	B;B;B;B	0.22880	0.017;0.042;0.021;0.012	D	0.94629	0.7820	9	0.19590	T	0.45	-8.8233	8.7231	0.34452	0.0:0.7148:0.0:0.2852	.	64;192;211;214	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	N	211;214;67;64;192	ENSP00000304044:D211N;ENSP00000370767:D214N;ENSP00000370765:D67N;ENSP00000343861:D64N	ENSP00000304044:D211N	D	-	1	0	GP2	20241707	0.002000	0.14202	0.003000	0.11579	0.301000	0.27625	-0.007000	0.12810	-0.103000	0.12175	-0.302000	0.09304	GAC		0.577	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		20	105	0	0	0	0.654019	0	20	105				
NEB	4703	broad.mit.edu	37	2	152471015	152471015	+	Silent	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:152471015G>T	ENST00000172853.10	-	73	10794	c.10647C>A	c.(10645-10647)tcC>tcA	p.S3549S	NEB_ENST00000397345.3_Silent_p.S3792S|NEB_ENST00000409198.1_Silent_p.S3549S|NEB_ENST00000427231.2_Silent_p.S3792S|NEB_ENST00000604864.1_Silent_p.S3792S|NEB_ENST00000603639.1_Silent_p.S3792S			P20929	NEBU_HUMAN	nebulin	3549					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCACATGGATGGACCACATCA	0.507																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(11374-11376)tcC>tcA		nebulin							233.0	219.0	224.0					2																	152471015		1964	4159	6123	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152471015G>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10647C>A	2.37:g.152471015G>T						NEB_ENST00000603639.1_Silent_p.S3792S|NEB_ENST00000604864.1_Silent_p.S3792S|NEB_ENST00000409198.1_Silent_p.S3549S|NEB_ENST00000172853.10_Silent_p.S3549S|NEB_ENST00000427231.2_Silent_p.S3792S	p.S3792S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	77	11578	-			3792					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.11376C>A																																																																																					0.507	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		7	261	1	0	5.18039e-06	0.278610	6.08696e-06	7	261				
ANKRD1	27063	broad.mit.edu	37	10	92679010	92679010	+	Silent	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:92679010G>A	ENST00000371697.3	-	3	471	c.223C>T	c.(223-225)Cta>Tta	p.L75L		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	75					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CTTTGTTCTAGTTTTTTCTTT	0.299																																						ENST00000371697.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27						c.(223-225)Cta>Tta		ankyrin repeat domain 1 (cardiac muscle)							47.0	47.0	47.0					10																	92679010		2201	4297	6498	SO:0001819	synonymous_variant	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92679010G>A	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.223C>T	10.37:g.92679010G>A							p.L75L	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN			3	471	-		Colorectal(252;0.0475)	75					Q96LE7	Silent	SNP	ENST00000371697.3	37	c.223C>T	CCDS7412.1																																																																																				0.299	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		6	17	0	0	0	0.217242	0	6	17				
VPS13A	23230	broad.mit.edu	37	9	79985485	79985485	+	Silent	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr9:79985485C>T	ENST00000360280.3	+	65	9158	c.8898C>T	c.(8896-8898)ggC>ggT	p.G2966G	VPS13A_ENST00000376634.4_Silent_p.G2966G|VPS13A_ENST00000357409.5_Silent_p.G2966G|VPS13A_ENST00000376636.3_Silent_p.G2927G	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2966					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGGAAAAGGCTTAGTTTCTG	0.388																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(8896-8898)ggC>ggT		vacuolar protein sorting 13 homolog A (S. cerevisiae)							86.0	81.0	83.0					9																	79985485		2203	4300	6503	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79985485C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8898C>T	9.37:g.79985485C>T						VPS13A_ENST00000376634.4_Silent_p.G2966G|VPS13A_ENST00000376636.3_Silent_p.G2927G|VPS13A_ENST00000357409.5_Silent_p.G2966G	p.G2966G	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			65	9158	+			2966					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.8898C>T	CCDS6655.1																																																																																				0.388	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		13	57	0	0	0	0.500413	0	13	57				
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000436847.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373823.3_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697																																						ENST00000373818.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.e1+2		gelsolin							22.0	24.0	23.0					9																	124062285		1599	3598	5197	SO:0001630	splice_region_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124062285T>G	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.144+2T>G	9.37:g.124062285T>G						GSN_ENST00000412819.1_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron		NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN			1	213	+								A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	ENST00000373818.4	37		CCDS6828.1																																																																																				0.697	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	Intron	7	23	0	0	0	0.387290	0	7	23				
AMER1	139285	broad.mit.edu	37	X	63410669	63410669	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:63410669T>A	ENST00000330258.3	-	2	2770	c.2498A>T	c.(2497-2499)gAt>gTt	p.D833V	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	833					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GGCTGCAAGATCTTCATCATT	0.522																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(2497-2499)gAt>gTt		APC membrane recruitment protein 1							40.0	41.0	40.0					X																	63410669		2190	4282	6472	SO:0001583	missense	139285							g.chrX:63410669T>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2498A>T	X.37:g.63410669T>A	ENSP00000329117:p.Asp833Val					AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	p.D833V	NM_152424.3	NP_689637.3					2	2770	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2498A>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999332	0.35226	.	.	ENSG00000184675	ENST00000330258	T	0.54675	0.56	4.43	3.23	0.37069	.	.	.	.	.	T	0.22820	0.0551	N	0.03608	-0.345	0.80722	D	1	B	0.19583	0.037	B	0.17979	0.02	T	0.03641	-1.1017	8	.	.	.	-1.5499	4.0695	0.09876	0.1856:0.1003:0.0:0.7141	.	833	Q5JTC6	F123B_HUMAN	V	833	ENSP00000329117:D833V	.	D	-	2	0	FAM123B	63327394	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	3.889000	0.56212	0.642000	0.30620	0.430000	0.28490	GAT		0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		13	13	0	0	0	0.457914	0	13	13				
KIF1B	23095	broad.mit.edu	37	1	10364544	10364544	+	Intron	SNP	T	T	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:10364544T>A	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.C1101S|KIF1B_ENST00000377093.4_Missense_Mutation_p.C1101S|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCAGTCTTACTGTAATTATAA	0.502																																						ENST00000377093.4																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3301-3303)Tgt>Agt		kinesin family member 1B							65.0	61.0	62.0					1																	10364544		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10364544T>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+7240T>A	1.37:g.10364544T>A						KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.C1101S|KIF1B_ENST00000377086.1_Intron	p.C1101S	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	3454	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3301T>A		.	.	.	.	.	.	.	.	.	.	T	6.684	0.494772	0.12702	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.73152	-0.72;-0.72	5.72	5.72	0.89469	.	.	.	.	.	T	0.56352	0.1979	.	.	.	0.80722	D	1	B	0.15473	0.013	B	0.16289	0.015	T	0.52328	-0.8590	8	0.15952	T	0.53	.	13.0626	0.59015	0.0:0.0:0.1336:0.8664	.	1101	O60333-3	.	S	1101	ENSP00000366297:C1101S;ENSP00000366287:C1101S	ENSP00000366287:C1101S	C	+	1	0	KIF1B	10287131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.302000	0.59092	2.174000	0.68829	0.533000	0.62120	TGT		0.502	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			27	34	0	0	0	0.667858	0	27	34				
XRRA1	143570	broad.mit.edu	37	11	74563054	74563054	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:74563054G>T	ENST00000340360.6	-	13	1551	c.1220C>A	c.(1219-1221)cCt>cAt	p.P407H	XRRA1_ENST00000527087.1_Intron|XRRA1_ENST00000321448.8_Missense_Mutation_p.P132H	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGCCACCAGAGGGTTGTTATG	0.537																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(1219-1221)cCt>cAt		X-ray radiation resistance associated 1							138.0	137.0	137.0					11																	74563054		2005	4173	6178	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74563054G>T	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1220C>A	11.37:g.74563054G>T	ENSP00000339918:p.Pro407His					XRRA1_ENST00000321448.8_Missense_Mutation_p.P132H|XRRA1_ENST00000527087.1_Intron	p.P407H	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			13	1551	-			407						Missense_Mutation	SNP	ENST00000340360.6	37	c.1220C>A	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720179	0.89205	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418	T;T	0.55760	1.87;0.5	6.07	6.07	0.98685	.	.	.	.	.	T	0.73024	0.3534	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.999;1.0	T	0.74559	-0.3625	9	0.87932	D	0	-7.3285	16.1526	0.81632	0.0:0.0:1.0:0.0	.	407;351;393	Q6P2D8;Q6P2D8-4;Q6P2D8-3	XRRA1_HUMAN;.;.	H	407;132;393;351	ENSP00000339918:P407H;ENSP00000319303:P132H	ENSP00000319303:P132H	P	-	2	0	XRRA1	74240702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.245000	0.65405	2.890000	0.99128	0.585000	0.79938	CCT		0.537	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		8	99	1	0	0.000157383	0.278610	0.000174047	8	99				
SYNE1	23345	broad.mit.edu	37	6	152784523	152784523	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr6:152784523C>A	ENST00000367255.5	-	19	2663	c.2062G>T	c.(2062-2064)Ggg>Tgg	p.G688W	SYNE1_ENST00000367248.3_Missense_Mutation_p.G678W|SYNE1_ENST00000367253.4_Missense_Mutation_p.G688W|SYNE1_ENST00000466159.2_Missense_Mutation_p.G688W|SYNE1_ENST00000448038.1_Missense_Mutation_p.G695W|SYNE1_ENST00000413186.2_Missense_Mutation_p.G688W|SYNE1_ENST00000341594.5_Missense_Mutation_p.G695W|SYNE1_ENST00000495090.2_Missense_Mutation_p.G255W|SYNE1_ENST00000423061.1_Missense_Mutation_p.G695W|SYNE1_ENST00000265368.4_Missense_Mutation_p.G688W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	688					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCACCGCCCATTTAGCAAC	0.418										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(2062-2064)Ggg>Tgg		spectrin repeat containing, nuclear envelope 1							135.0	124.0	128.0					6																	152784523		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152784523C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2062G>T	6.37:g.152784523C>A	ENSP00000356224:p.Gly688Trp	HNSCC(10;0.0054)				SYNE1_ENST00000413186.2_Missense_Mutation_p.G688W|SYNE1_ENST00000448038.1_Missense_Mutation_p.G695W|SYNE1_ENST00000367248.3_Missense_Mutation_p.G678W|SYNE1_ENST00000423061.1_Missense_Mutation_p.G695W|SYNE1_ENST00000495090.2_Missense_Mutation_p.G255W|SYNE1_ENST00000466159.2_Missense_Mutation_p.G688W|SYNE1_ENST00000341594.5_Missense_Mutation_p.G695W|SYNE1_ENST00000367253.4_Missense_Mutation_p.G688W|SYNE1_ENST00000265368.4_Missense_Mutation_p.G688W	p.G688W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	19	2663	-		Ovarian(120;0.0955)	688					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.2062G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793118	0.90453	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159	T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000013	T	0.55178	0.1904	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;1.0	T	0.55490	-0.8133	10	0.66056	D	0.02	.	19.8892	0.96923	0.0:1.0:0.0:0.0	.	671;688;688;255;678;688;695	B3W695;Q8NF91;F5H4Q0;F5H422;F5GXQ8;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	W	688;695;688;695;695;688;678;688;255;688	ENSP00000356224:G688W;ENSP00000396024:G695W;ENSP00000265368:G688W;ENSP00000390975:G695W;ENSP00000341887:G695W;ENSP00000356222:G688W;ENSP00000356217:G678W;ENSP00000414510:G688W;ENSP00000438508:G255W;ENSP00000446021:G688W	ENSP00000265368:G688W	G	-	1	0	SYNE1	152826216	1.000000	0.71417	0.971000	0.41717	0.917000	0.54804	7.701000	0.84566	2.777000	0.95525	0.591000	0.81541	GGG		0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		23	34	1	0	1.96895e-08	0.639603	2.5011e-08	23	34				
PLOD3	8985	broad.mit.edu	37	7	100859716	100859716	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:100859716C>A	ENST00000223127.3	-	3	711	c.313G>T	c.(313-315)Gat>Tat	p.D105Y	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	105					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATGATCATATCCTCCCGGTCA	0.572																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(313-315)Gat>Tat		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)						178.0	164.0	169.0					7																	100859716		2203	4300	6503	SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100859716C>A	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.313G>T	7.37:g.100859716C>A	ENSP00000223127:p.Asp105Tyr						p.D105Y	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			3	711	-	Lung NSC(181;0.168)|all_lung(186;0.215)		105					B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	c.313G>T	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001891	0.54254	.	.	ENSG00000106397	ENST00000223127;ENST00000541462;ENST00000414785	T;T	0.63580	-0.05;-0.05	4.95	4.95	0.65309	.	0.185032	0.45606	D	0.000350	T	0.80701	0.4673	M	0.88450	2.955	0.47994	D	0.999564	D	0.89917	1.0	D	0.67231	0.95	D	0.84644	0.0697	10	0.87932	D	0	-1.9296	13.6656	0.62393	0.0:1.0:0.0:0.0	.	105	O60568	PLOD3_HUMAN	Y	105;9;109	ENSP00000223127:D105Y;ENSP00000407551:D109Y	ENSP00000223127:D105Y	D	-	1	0	PLOD3	100646436	0.996000	0.38824	0.928000	0.36995	0.498000	0.33706	3.421000	0.52742	2.307000	0.77673	0.491000	0.48974	GAT		0.572	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			19	72	1	0	0.00074312	0.539581	0.000802911	19	72				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	72	0	0	0	0.115264	0	3	72				
VAV1	7409	broad.mit.edu	37	19	6853974	6853974	+	Nonsense_Mutation	SNP	T	T	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:6853974T>G	ENST00000602142.1	+	26	2431	c.2349T>G	c.(2347-2349)taT>taG	p.Y783*	VAV1_ENST00000539284.1_Nonsense_Mutation_p.Y686*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.Y751*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.Y761*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.Y728*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	783	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCACAAAGTATTTTGGCACAG	0.527																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2281-2283)taT>taG		vav 1 guanine nucleotide exchange factor							97.0	91.0	93.0					19																	6853974		2203	4300	6503	SO:0001587	stop_gained	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6853974T>G		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2349T>G	19.37:g.6853974T>G	ENSP00000472929:p.Tyr783*					VAV1_ENST00000602142.1_Nonsense_Mutation_p.Y783*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.Y728*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.Y751*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.Y686*	p.Y761*	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			25	2377	+			783			SH2.		B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	ENST00000602142.1	37	c.2283T>G	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	T	36	5.843191	0.97016	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	4.35	-4.65	0.03339	.	0.539029	0.19180	N	0.120714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0678	0.64841	0.0:0.6627:0.0:0.3373	.	.	.	.	X	783;686	.	ENSP00000302269:Y783X	Y	+	3	2	VAV1	6804974	0.627000	0.27129	0.848000	0.33437	0.901000	0.52897	-0.304000	0.08199	-0.976000	0.03542	0.459000	0.35465	TAT		0.527	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			31	86	0	0	0	0.788014	0	31	86				
TTN	7273	broad.mit.edu	37	2	179447818	179447818	+	Silent	SNP	T	T	A	rs376346696		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:179447818T>A	ENST00000591111.1	-	263	61013	c.60789A>T	c.(60787-60789)ctA>ctT	p.L20263L	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.L12964L|TTN_ENST00000342175.6_Silent_p.L13031L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.L21904L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.L19336L|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Silent_p.L12839L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20263	Ig-like 111.				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)			CTGCTGGTTTTAGCAGTGTGC	0.458																																						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.(65710-65712)ctA>ctT		titin							69.0	65.0	66.0					2																	179447818		1963	4167	6130	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179447818T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60789A>T	2.37:g.179447818T>A						TTN_ENST00000342175.6_Silent_p.L13031L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.L19336L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L20263L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.L12839L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.L12964L	p.L21904L	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)		313	65936	-			20263			Fibronectin type-III 59.		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	Silent	SNP	ENST00000591111.1	37	c.65712A>T																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	24	0	0	0	0.150653	0	4	24				
SETD2	29072	broad.mit.edu	37	3	47163797	47163797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:47163797C>A	ENST00000409792.3	-	3	2371	c.2329G>T	c.(2329-2331)Gaa>Taa	p.E777*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	777					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCAACTGGTTCTTTAACTACT	0.398			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(2329-2331)Gaa>Taa		SET domain containing 2							143.0	139.0	141.0					3																	47163797		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47163797C>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2329G>T	3.37:g.47163797C>A	ENSP00000386759:p.Glu777*						p.E777*	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2371	-		Acute lymphoblastic leukemia(5;0.0169)	777					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.2329G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	38	7.240238	0.98157	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.18	5.18	0.71444	.	0.201892	0.34828	N	0.003654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	10.7702	0.46319	0.0:0.9067:0.0:0.0933	.	.	.	.	X	777;777;777;733	.	ENSP00000386759:E777X	E	-	1	0	SETD2	47138801	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.272000	0.51616	2.679000	0.91253	0.655000	0.94253	GAA		0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		12	106	1	0	5.50884e-06	0.411799	6.39297e-06	12	106				
ECE1	1889	broad.mit.edu	37	1	21584023	21584023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:21584023C>A	ENST00000374893.6	-	7	897	c.823G>T	c.(823-825)Gag>Tag	p.E275*	ECE1_ENST00000436918.2_Nonsense_Mutation_p.E275*|ECE1_ENST00000528294.1_5'Flank|ECE1_ENST00000357071.4_Nonsense_Mutation_p.E263*|ECE1_ENST00000264205.6_Nonsense_Mutation_p.E272*|ECE1_ENST00000415912.2_Nonsense_Mutation_p.E259*	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	275					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CTTACCTTCTCGTTTTCAGTT	0.577																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(775-777)Gag>Tag		endothelin converting enzyme 1							202.0	123.0	150.0					1																	21584023		2203	4300	6503	SO:0001587	stop_gained	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21584023C>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.823G>T	1.37:g.21584023C>A	ENSP00000364028:p.Glu275*					ECE1_ENST00000374893.6_Nonsense_Mutation_p.E275*|ECE1_ENST00000357071.4_Nonsense_Mutation_p.E263*|ECE1_ENST00000264205.6_Nonsense_Mutation_p.E272*|ECE1_ENST00000436918.2_Nonsense_Mutation_p.E275*	p.E259*	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	7	900	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	275					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Nonsense_Mutation	SNP	ENST00000374893.6	37	c.775G>T	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	39	7.388374	0.98252	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	.	.	.	5.3	5.3	0.74995	.	0.095655	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-29.5322	16.8103	0.85717	0.0:1.0:0.0:0.0	.	.	.	.	X	259;263;275;275;272	.	ENSP00000264205:E272X	E	-	1	0	ECE1	21456610	0.999000	0.42202	0.996000	0.52242	0.885000	0.51271	4.341000	0.59335	2.645000	0.89757	0.591000	0.81541	GAG		0.577	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		4	42	1	0	0.150653	0.150653	0.152273	4	42				
MEGF11	84465	broad.mit.edu	37	15	66249960	66249960	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:66249960C>A	ENST00000409699.2	-	10	1384	c.1212G>T	c.(1210-1212)caG>caT	p.Q404H	MEGF11_ENST00000288745.3_Missense_Mutation_p.Q329H|MEGF11_ENST00000395625.2_Missense_Mutation_p.Q329H|MEGF11_ENST00000360698.4_Missense_Mutation_p.Q404H|MEGF11_ENST00000422354.1_Missense_Mutation_p.Q404H|MEGF11_ENST00000395614.1_5'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	404	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCAAGGCAGCTGGCAGCCAT	0.617																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1210-1212)caG>caT		multiple EGF-like-domains 11							51.0	42.0	45.0					15																	66249960		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66249960C>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1212G>T	15.37:g.66249960C>A	ENSP00000386908:p.Gln404His					MEGF11_ENST00000360698.4_Missense_Mutation_p.Q404H|MEGF11_ENST00000288745.3_Missense_Mutation_p.Q329H|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.Q404H|MEGF11_ENST00000395625.2_Missense_Mutation_p.Q329H	p.Q404H			A6BM72	MEG11_HUMAN			10	1384	-			404			EGF-like 7.		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.1212G>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086111	0.55861	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698;ENST00000455812	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16	4.87	3.95	0.45737	EGF-like, laminin (2);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.193016	0.25256	U	0.031990	T	0.38427	0.1040	M	0.76727	2.345	0.35861	D	0.827484	B;P	0.44281	0.4;0.831	P;P	0.52881	0.608;0.712	T	0.54125	-0.8340	10	0.72032	D	0.01	.	12.5597	0.56273	0.0:0.9188:0.0:0.0812	.	404;329	A6BM72;A6BM72-2	MEG11_HUMAN;.	H	404;329;404;329;404;108	ENSP00000386908:Q404H;ENSP00000288745:Q329H;ENSP00000414475:Q404H;ENSP00000378987:Q329H;ENSP00000353919:Q404H;ENSP00000401400:Q108H	ENSP00000288745:Q329H	Q	-	3	2	MEGF11	64037014	0.988000	0.35896	1.000000	0.80357	0.727000	0.41649	0.874000	0.28065	1.190000	0.43042	-0.258000	0.10820	CAG		0.617	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		22	34	1	0	4.54149e-19	0.624587	6.99835e-19	22	34				
MMEL1	79258	broad.mit.edu	37	1	2530166	2530166	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:2530166C>A	ENST00000378412.3	-	12	1266	c.1105G>T	c.(1105-1107)Gat>Tat	p.D369Y	MMEL1_ENST00000502556.1_Missense_Mutation_p.D212Y|MMEL1_ENST00000288709.6_Missense_Mutation_p.D360Y			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	369						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACTTCCTCATCTGGCAGCAGC	0.512																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1078-1080)Gat>Tat		membrane metallo-endopeptidase-like 1							132.0	123.0	126.0					1																	2530166		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2530166C>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1105G>T	1.37:g.2530166C>A	ENSP00000367668:p.Asp369Tyr					MMEL1_ENST00000502556.1_Missense_Mutation_p.D212Y|MMEL1_ENST00000378412.3_Missense_Mutation_p.D369Y	p.D360Y	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	12	1318	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	369					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1078G>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100223	0.37048	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.74209	-0.82;-0.82;-0.82	4.82	-7.22	0.01485	Peptidase M13 (1);	0.639056	0.16714	N	0.202526	T	0.79499	0.4456	M	0.79805	2.47	0.09310	N	0.99999	P	0.51933	0.949	P	0.62649	0.905	T	0.73282	-0.4032	10	0.49607	T	0.09	-0.53	9.0327	0.36269	0.0:0.3873:0.0963:0.5164	.	369	Q495T6	MMEL1_HUMAN	Y	212;360;369;212	ENSP00000288709:D360Y;ENSP00000367668:D369Y;ENSP00000422492:D212Y	ENSP00000288709:D360Y	D	-	1	0	MMEL1	2520026	0.000000	0.05858	0.000000	0.03702	0.261000	0.26267	-0.715000	0.04997	-1.171000	0.02765	-0.367000	0.07326	GAT		0.512	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		13	33	1	0	9.31168e-06	0.435327	1.05458e-05	13	33				
TLR8	51311	broad.mit.edu	37	X	12938993	12938993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:12938993G>T	ENST00000218032.6	+	2	1921	c.1834G>T	c.(1834-1836)Gaa>Taa	p.E612*	TLR8_ENST00000311912.5_Nonsense_Mutation_p.E630*	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	612					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GTCCCTGGTAGAATTAGTTTT	0.343																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1834-1836)Gaa>Taa		toll-like receptor 8							56.0	56.0	56.0					X																	12938993		2202	4299	6501	SO:0001587	stop_gained	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938993G>T	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1834G>T	X.37:g.12938993G>T	ENSP00000218032:p.Glu612*					TLR8_ENST00000311912.5_Nonsense_Mutation_p.E630*	p.E612*	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	1921	+			612					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Nonsense_Mutation	SNP	ENST00000218032.6	37	c.1834G>T	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762649	0.89932	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	.	.	.	5.82	5.82	0.92795	.	0.000000	0.41938	D	0.000788	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.872	0.52525	0.1328:0.0:0.8672:0.0	.	.	.	.	X	612;630	.	ENSP00000218032:E612X	E	+	1	0	TLR8	12848914	0.858000	0.29795	0.758000	0.31321	0.097000	0.18754	2.450000	0.44943	2.467000	0.83353	0.600000	0.82982	GAA		0.343	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		13	171	1	0	6.72482e-11	0.479597	9.03048e-11	13	171				
BPTF	2186	broad.mit.edu	37	17	65972039	65972039	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:65972039C>A	ENST00000321892.4	+	29	9130	c.9069C>A	c.(9067-9069)ttC>ttA	p.F3023L	BPTF_ENST00000424123.3_Missense_Mutation_p.F2741L|BPTF_ENST00000335221.5_Missense_Mutation_p.F2880L|RN7SL622P_ENST00000585292.1_RNA|BPTF_ENST00000306378.6_Missense_Mutation_p.F2897L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	3023					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCGAATCATTCTTTGTACAGA	0.383																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(9067-9069)ttC>ttA		bromodomain PHD finger transcription factor							98.0	99.0	98.0					17																	65972039		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65972039C>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.9069C>A	17.37:g.65972039C>A	ENSP00000315454:p.Phe3023Leu					BPTF_ENST00000335221.5_Missense_Mutation_p.F2880L|BPTF_ENST00000306378.6_Missense_Mutation_p.F2897L|BPTF_ENST00000424123.3_Missense_Mutation_p.F2741L	p.F3023L			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		29	9130	+	all_cancers(12;6e-11)		3023					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.9069C>A		.	.	.	.	.	.	.	.	.	.	C	21.9	4.220199	0.79464	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	T;T;T	0.17054	2.3;2.3;2.3	5.79	5.79	0.91817	.	.	.	.	.	T	0.39911	0.1096	L	0.52364	1.645	0.80722	D	1	B;P;D;D	0.76494	0.03;0.836;0.999;0.999	B;P;D;D	0.76575	0.015;0.484;0.988;0.988	T	0.05131	-1.0904	9	0.72032	D	0.01	-9.3663	20.0206	0.97499	0.0:1.0:0.0:0.0	.	228;701;2897;2880	E9PE19;B4DJV8;Q12830-2;Q12830-4	.;.;.;.	L	2897;2880;3023;228	ENSP00000307208:F2897L;ENSP00000334351:F2880L;ENSP00000315454:F3023L	ENSP00000307208:F2897L	F	+	3	2	BPTF	63402501	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.872000	0.69636	2.731000	0.93534	0.591000	0.81541	TTC		0.383	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		6	168	1	0	0.00116845	0.217242	0.00123409	6	168				
ABCC8	6833	broad.mit.edu	37	11	17464293	17464293	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:17464293G>A	ENST00000389817.3	-	10	1672	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	ABCC8_ENST00000528202.1_5'UTR|ABCC8_ENST00000302539.4_Missense_Mutation_p.A535V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	535	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GATGGCAAAGGCCCTGAGGCT	0.602																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1603-1605)gCc>gTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						103.0	90.0	95.0					11																	17464293		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17464293G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1604C>T	11.37:g.17464293G>A	ENSP00000374467:p.Ala535Val					ABCC8_ENST00000528202.1_5'UTR|ABCC8_ENST00000389817.3_Missense_Mutation_p.A535V	p.A535V	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	10	1729	-			535			ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.1604C>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588973	0.96590	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.89270	-2.49;-2.49	6.02	6.02	0.97574	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.056378	0.64402	D	0.000001	D	0.85124	0.5625	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.26708	0.095;0.157	B;B	0.33121	0.158;0.158	T	0.80415	-0.1392	10	0.45353	T	0.12	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	534;535	B7Z4N0;Q09428	.;ABCC8_HUMAN	V	535;535;549	ENSP00000374467:A535V;ENSP00000303960:A535V	ENSP00000303960:A535V	A	-	2	0	ABCC8	17420869	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.855000	0.99526	2.865000	0.98341	0.655000	0.94253	GCC		0.602	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		26	66	0	0	0	0.681144	0	26	66				
BCL9L	283149	broad.mit.edu	37	11	118771969	118771969	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:118771969A>T	ENST00000334801.3	-	6	3447	c.2483T>A	c.(2482-2484)gTg>gAg	p.V828E	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	828	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCGCCCATCACGCCACTGCT	0.647																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(2482-2484)gTg>gAg		B-cell CLL/lymphoma 9-like							56.0	56.0	56.0					11																	118771969		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118771969A>T	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2483T>A	11.37:g.118771969A>T	ENSP00000335320:p.Val828Glu					BCL9L_ENST00000526143.1_5'UTR	p.V828E	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	3447	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	828			Met-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.2483T>A	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	A	1.067	-0.670951	0.03403	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.45276	0.9	5.21	5.21	0.72293	.	0.093206	0.46758	D	0.000280	T	0.28566	0.0707	N	0.14661	0.345	0.27148	N	0.961482	B;B	0.23540	0.087;0.052	B;B	0.21151	0.033;0.015	T	0.20638	-1.0269	10	0.46703	T	0.11	-5.8609	14.7683	0.69657	1.0:0.0:0.0:0.0	.	823;828	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	E	828;791;121;828;828	ENSP00000335320:V828E	ENSP00000335320:V828E	V	-	2	0	BCL9L	118277179	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.786000	0.75094	1.957000	0.56846	0.533000	0.62120	GTG		0.647	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		30	86	0	0	0	0.750413	0	30	86				
ABCA8	10351	broad.mit.edu	37	17	66878093	66878093	+	Missense_Mutation	SNP	C	C	A	rs576031209		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:66878093C>A	ENST00000269080.2	-	29	3874	c.3737G>T	c.(3736-3738)cGc>cTc	p.R1246L	ABCA8_ENST00000430352.2_Missense_Mutation_p.R1286L|ABCA8_ENST00000586539.1_Missense_Mutation_p.R1286L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1246	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATACTCCTTGCGTAGACAGCT	0.408																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(3736-3738)cGc>cTc		ATP-binding cassette, sub-family A (ABC1), member 8							138.0	128.0	131.0					17																	66878093		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66878093C>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3737G>T	17.37:g.66878093C>A	ENSP00000269080:p.Arg1246Leu					ABCA8_ENST00000430352.2_Missense_Mutation_p.R1286L|ABCA8_ENST00000586539.1_Missense_Mutation_p.R1286L	p.R1246L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			29	3874	-	Breast(10;4.56e-13)		1246			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.3737G>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261826	0.80358	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.87729	-2.25;-2.29	4.75	4.75	0.60458	ABC transporter-like (1);	0.119358	0.38217	N	0.001764	D	0.83626	0.5295	N	0.20685	0.6	0.41687	D	0.989327	P;P;D	0.58620	0.884;0.721;0.983	P;B;P	0.55112	0.507;0.421;0.769	T	0.81982	-0.0683	10	0.33940	T	0.23	.	10.5856	0.45280	0.0:0.9017:0.0:0.0983	.	1286;1286;1246	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	L	1246;1286	ENSP00000269080:R1246L;ENSP00000402814:R1286L	ENSP00000269080:R1246L	R	-	2	0	ABCA8	64389688	0.059000	0.20769	0.997000	0.53966	0.970000	0.65996	0.843000	0.27640	2.623000	0.88846	0.563000	0.77884	CGC		0.408	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		22	156	1	0	6.21321e-17	0.639603	9.27051e-17	22	156				
ZSCAN18	65982	broad.mit.edu	37	19	58596705	58596705	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:58596705C>T	ENST00000240727.6	-	7	1279	c.880G>A	c.(880-882)Gag>Aag	p.E294K	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E350K|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E294K|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E158K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	294					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGGCGGCCTCCTCGCAGGCG	0.736																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(880-882)Gag>Aag		zinc finger and SCAN domain containing 18							6.0	8.0	7.0					19																	58596705		1515	3199	4714	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596705C>T	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.880G>A	19.37:g.58596705C>T	ENSP00000240727:p.Glu294Lys					ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E158K|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E294K|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E350K	p.E294K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1279	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	294					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.880G>A	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285806	0.40394	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02944	4.32;4.1	2.15	2.15	0.27550	.	2.804860	0.01958	N	0.043115	T	0.03095	0.0091	N	0.19112	0.55	0.09310	N	1	P;P;P;B	0.39480	0.588;0.675;0.549;0.225	B;B;B;B	0.36092	0.175;0.122;0.217;0.05	T	0.43228	-0.9404	10	0.41790	T	0.15	0.7273	10.3486	0.43920	0.0:1.0:0.0:0.0	.	350;158;293;294	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	K	350;294;158	ENSP00000240727:E294K;ENSP00000392653:E158K	ENSP00000240727:E294K	E	-	1	0	ZSCAN18	63288517	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.075000	0.11431	1.501000	0.48654	0.561000	0.74099	GAG		0.736	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		4	20	0	0	0	0.150653	0	4	20				
TACC2	10579	broad.mit.edu	37	10	123987406	123987406	+	Silent	SNP	T	T	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:123987406T>C	ENST00000369005.1	+	14	8119	c.7779T>C	c.(7777-7779)caT>caC	p.H2593H	TACC2_ENST00000260733.3_Silent_p.H671H|TACC2_ENST00000360561.3_Silent_p.H671H|TACC2_ENST00000515603.1_Silent_p.H2548H|TACC2_ENST00000369001.1_Silent_p.H297H|TACC2_ENST00000453444.2_Silent_p.H2597H|TACC2_ENST00000358010.1_Silent_p.H739H|TACC2_ENST00000369000.1_Silent_p.H293H|TACC2_ENST00000369004.3_Silent_p.H683H|TACC2_ENST00000368999.1_Silent_p.H683H|TACC2_ENST00000515273.1_Silent_p.H2597H|TACC2_ENST00000513429.1_Silent_p.H739H|TACC2_ENST00000334433.3_Silent_p.H2593H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2593					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAAACCAGCATCCTGTCCCAC	0.532																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7777-7779)caT>caC		transforming, acidic coiled-coil containing protein 2							97.0	95.0	95.0					10																	123987406		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123987406T>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7779T>C	10.37:g.123987406T>C						TACC2_ENST00000369001.1_Silent_p.H297H|TACC2_ENST00000358010.1_Silent_p.H739H|TACC2_ENST00000453444.2_Silent_p.H2597H|TACC2_ENST00000368999.1_Silent_p.H683H|TACC2_ENST00000515603.1_Silent_p.H2548H|TACC2_ENST00000513429.1_Silent_p.H739H|TACC2_ENST00000369004.3_Silent_p.H683H|TACC2_ENST00000369000.1_Silent_p.H293H|TACC2_ENST00000260733.3_Silent_p.H671H|TACC2_ENST00000360561.3_Silent_p.H671H|TACC2_ENST00000515273.1_Silent_p.H2597H|TACC2_ENST00000334433.3_Silent_p.H2593H	p.H2593H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			14	8119	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2593					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.7779T>C	CCDS7626.1																																																																																				0.532	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			32	94	0	0	0	0.750413	0	32	94				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			284729							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	5						3	5	---	---	---	---
CD2	914	broad.mit.edu	37	1	117307204	117307204	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:117307204delA	ENST00000369478.3	+	4	820	c.712delA	c.(712-714)aaafs	p.K239fs		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	239					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CACCAAAAGGAAAAAACAGAG	0.493																																					NSCLC(14;263 555 26380 43512 51332)	ENST00000369478.3																			0				NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18						c.(712-714)aafs		CD2 molecule	Alefacept(DB00092)						85.0	78.0	80.0					1																	117307204		2203	4300	6503	SO:0001589	frameshift_variant	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117307204delA	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.712delA	1.37:g.117307204delA	ENSP00000358490:p.Lys239fs						p.K239fs	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	4	820	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	239					Q96TE5	Frame_Shift_Del	DEL	ENST00000369478.3	37	c.712delA	CCDS889.1																																																																																				0.493	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		11	44						11	44	---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132401619	132401619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:132401619delT	ENST00000337331.5	-	26	3826	c.3740delA	c.(3739-3741)aagfs	p.K1247fs	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1247					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCATAAATCTTTAATGCTCT	0.333																																						ENST00000337331.5																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(3739-3741)agfs		nephronophthisis 3 (adolescent)							108.0	112.0	111.0					3																	132401619		2203	4300	6503	SO:0001589	frameshift_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132401619delT	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3740delA	3.37:g.132401619delT	ENSP00000338766:p.Lys1247fs					NPHP3_ENST00000326682.8_3'UTR	p.K1247fs	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			26	3826	-			1247					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Frame_Shift_Del	DEL	ENST00000337331.5	37	c.3740delA	CCDS3078.1																																																																																				0.333	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		30	125						30	125	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137886050	137886050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:137886050delA	ENST00000260803.4	-	5	740	c.587delT	c.(586-588)ttcfs	p.F196fs	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	196					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTCTTGTCGGAAAAAAGATTT	0.373																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(586-588)tcfs		debranching RNA lariats 1							81.0	80.0	80.0					3																	137886050		2203	4300	6503	SO:0001589	frameshift_variant	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137886050delA	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.587delT	3.37:g.137886050delA	ENSP00000260803:p.Phe196fs					DBR1_ENST00000505015.2_5'UTR	p.F196fs	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			5	740	-			196					Q96GH0|Q9NXQ6	Frame_Shift_Del	DEL	ENST00000260803.4	37	c.587delT	CCDS33863.1																																																																																				0.373	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			14	82						14	82	---	---	---	---
BTF3	689	broad.mit.edu	37	5	72801044	72801047	+	Frame_Shift_Del	DEL	CCAA	CCAA	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr5:72801044_72801047delCCAA	ENST00000335895.8	+	6	621_624	c.470_473delCCAA	c.(469-474)tccaagfs	p.SK157fs	BTF3_ENST00000380591.3_Frame_Shift_Del_p.SK201fs|BTF3_ENST00000514505.2_3'UTR	NM_001207.4	NP_001198.2	O00478	BT3A3_HUMAN	basic transcription factor 3	0	Ig-like V-type 2.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		GATGAGGCTTCCAAGAATGAGGCA	0.314																																						ENST00000380591.3																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(601-606)tgfs		basic transcription factor 3																																				SO:0001589	frameshift_variant	689				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding	g.chr5:72801044_72801047delCCAA	M90352	CCDS4019.1, CCDS34185.1	5q13.3	2010-06-17			ENSG00000145741	ENSG00000145741			1125	protein-coding gene	gene with protein product		602542	"""nascent-polypeptide-associated complex beta polypeptide"""	NACB		2320128, 1386332, 15716105	Standard	NM_001207		Approved	BTF3a, BTF3b	uc003kcr.1	P20290	OTTHUMG00000102031	ENST00000335895.8:c.470_473delCCAA	5.37:g.72801044_72801047delCCAA	ENSP00000338516:p.Ser157fs					BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Frame_Shift_Del_p.SK157fs	p.SK201fs	NM_001037637.1	NP_001032726.1	P20290	BTF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)	6	821_824	+		Lung NSC(167;0.00405)|Ovarian(174;0.0175)	201					B4DWI7|E9PCP5	Frame_Shift_Del	DEL	ENST00000335895.8	37	c.602_605delCCAA	CCDS4019.1																																																																																				0.314	BTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219815.2	NM_001207		25	54						25	54	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27355434	27355434	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:27355434delT	ENST00000376087.4	-	11	1416	c.1251delA	c.(1249-1251)gaafs	p.E417fs	ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.E466fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	417					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CCCAAGGTGATTCTATATCTT	0.299																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(1249-1251)gafs		ankyrin repeat domain 26							81.0	82.0	82.0					10																	27355434		1817	4060	5877	SO:0001589	frameshift_variant	22852					centrosome		g.chr10:27355434delT	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1251delA	10.37:g.27355434delT	ENSP00000365255:p.Glu417fs					ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.E466fs	p.E417fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			11	1416	-			417					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Frame_Shift_Del	DEL	ENST00000376087.4	37	c.1251delA	CCDS41499.1																																																																																				0.299	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			27	58						27	58	---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	54042044	54042044	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:54042044delG	ENST00000401604.2	+	14	1826	c.1632delG	c.(1630-1632)ctgfs	p.L544fs	PRKG1_ENST00000373975.2_Frame_Shift_Del_p.L262fs|PRKG1_ENST00000373985.1_Frame_Shift_Del_p.L532fs|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373980.4_Frame_Shift_Del_p.L559fs			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	544	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACTGGTCACTGGGAATCCTAA	0.448																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(1675-1677)ctfs		protein kinase, cGMP-dependent, type I							103.0	91.0	95.0					10																	54042044		2203	4300	6503	SO:0001589	frameshift_variant	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54042044delG		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1632delG	10.37:g.54042044delG	ENSP00000384200:p.Leu544fs					PRKG1_ENST00000373975.2_Frame_Shift_Del_p.L262fs|PRKG1_ENST00000401604.2_Frame_Shift_Del_p.L544fs|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Frame_Shift_Del_p.L532fs|PRKG1-AS1_ENST00000452247.2_RNA	p.L559fs	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	14	2094	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	544			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Frame_Shift_Del	DEL	ENST00000401604.2	37	c.1677delG	CCDS44399.1																																																																																				0.448	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				17	66						17	66	---	---	---	---
RRP12	23223	broad.mit.edu	37	10	99130679	99130679	+	Splice_Site	DEL	C	C	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:99130679delC	ENST00000370992.4	-	21	2614		c.e21+1		RRP12_ENST00000479481.1_Splice_Site|RRP12_ENST00000414986.1_Splice_Site|RRP12_ENST00000315563.6_Splice_Site|RRP12_ENST00000536831.1_Splice_Site	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)							integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGAGCCCTCACCCTCTTGGCG	0.652																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.e21+1		ribosomal RNA processing 12 homolog (S. cerevisiae)							45.0	47.0	46.0					10																	99130679		2203	4300	6503	SO:0001630	splice_region_variant	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99130679delC		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2502+1G>-	10.37:g.99130679delC						RRP12_ENST00000414986.1_Splice_Site|RRP12_ENST00000536831.1_Splice_Site|RRP12_ENST00000479481.1_Splice_Site|RRP12_ENST00000315563.6_Splice_Site		NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	21	2614	-		Colorectal(252;0.162)						B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Splice_Site	DEL	ENST00000370992.4	37		CCDS7457.1																																																																																				0.652	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	Intron	21	52						21	52	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		8	468						8	468	---	---	---	---
MAZ	4150	broad.mit.edu	37	16	29821427	29821450	+	In_Frame_Del	DEL	GCAGCGGCAGCGGCGGCAGCGGCA	GCAGCGGCAGCGGCGGCAGCGGCA	-	rs370462022|rs374878500|rs372208027|rs530039776|rs368361570|rs368894015|rs372438870|rs370548510|rs75194070|rs201662748|rs199924629	byFrequency	TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:29821427_29821450delGCAGCGGCAGCGGCGGCAGCGGCA	ENST00000322945.6	+	5	1474_1497	c.1309_1332delGCAGCGGCAGCGGCGGCAGCGGCA	c.(1309-1332)gcagcggcagcggcggcagcggcadel	p.AAAAAAAA437del	MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000300797.6_5'Flank|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000562337.1_In_Frame_Del_p.AAAAAAAA132del|MAZ_ENST00000568544.1_In_Frame_Del_p.AAAAAAAA38del|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000545521.1_In_Frame_Del_p.AAAAAAAA414del|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000568282.1_3'UTR|AC009133.15_ENST00000566537.1_RNA|AC009133.14_ENST00000563806.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000563402.1_Splice_Site_p.94_101GSGSGGSG>G|MAZ_ENST00000566906.2_Splice_Site_p.94_99GSGSGG>G	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	437	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AATggcggcggcagcggcagcggcggcagcggcagcagcggcag	0.661																																					Colon(72;875 1167 15364 30899 37091)	ENST00000322945.6																			0				endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1309-1332)del		MYC-associated zinc finger protein (purine-binding transcription factor)																																				SO:0001651	inframe_deletion	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29821427_29821450delGCAGCGGCAGCGGCGGCAGCGGCA	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1309_1332delGCAGCGGCAGCGGCGGCAGCGGCA	16.37:g.29821427_29821450delGCAGCGGCAGCGGCGGCAGCGGCA	ENSP00000313362:p.Ala437_Ala444del					MAZ_ENST00000545521.1_In_Frame_Del_p.AAAAAAAA414del|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000563402.1_Splice_Site_p.G94_splice|MAZ_ENST00000568282.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000566906.2_Splice_Site_p.G94_splice|MAZ_ENST00000568544.1_In_Frame_Del_p.AAAAAAAA38del|MAZ_ENST00000562337.1_In_Frame_Del_p.AAAAAAAA132del	p.AAAAAAAA437del	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN			5	1474_1497	+			437			Poly-Ala.		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	In_Frame_Del	DEL	ENST00000322945.6	37	c.1309_1332delGCAGCGGCAGCGGCGGCAGCGGCA	CCDS42143.1																																																																																				0.661	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		12	106						12	106	---	---	---	---
RAVER1	125950	broad.mit.edu	37	19	10431728	10431728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:10431728delG	ENST00000293677.6	-	8	1601	c.1520delC	c.(1519-1521)cctfs	p.P507fs	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCTTACCCCAGGGGGCGTCGG	0.726																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1519-1521)ctfs		ribonucleoprotein, PTB-binding 1							4.0	5.0	5.0					19																	10431728		1673	3740	5413	SO:0001589	frameshift_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10431728delG		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1520delC	19.37:g.10431728delG	ENSP00000293677:p.Pro507fs						p.P507fs	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		8	1601	-			516					A6NMU4|Q8IY60|Q8TF24	Frame_Shift_Del	DEL	ENST00000293677.6	37	c.1520delC	CCDS45960.1																																																																																				0.726	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		5	11						5	11	---	---	---	---
BIK	638	broad.mit.edu	37	22	43525235	43525252	+	In_Frame_Del	DEL	TGCTGCTGGCGCTGCTGC	TGCTGCTGGCGCTGCTGC	-	rs140238366|rs201004577|rs542081559	byFrequency	TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr22:43525235_43525252delTGCTGCTGGCGCTGCTGC	ENST00000216115.2	+	5	470_487	c.407_424delTGCTGCTGGCGCTGCTGC	c.(406-426)gtgctgctggcgctgctgctg>gtg	p.LLALLL143del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	143	Leucine-zipper. {ECO:0000255}.				apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				TGCGAACAGGtgctgctggcgctgctgctgctgctggc	0.711																																						ENST00000216115.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(406-426)gtg>g		BCL2-interacting killer (apoptosis-inducing)																																				SO:0001651	inframe_deletion	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43525235_43525252delTGCTGCTGGCGCTGCTGC	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.407_424delTGCTGCTGGCGCTGCTGC	22.37:g.43525235_43525252delTGCTGCTGGCGCTGCTGC	ENSP00000216115:p.Leu143_Leu148del						p.VLLALLL136del	NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN			5	470_487	+		Ovarian(80;0.0694)	136					Q16582|Q6FH93	In_Frame_Del	DEL	ENST00000216115.2	37	c.407_424delTGCTGCTGGCGCTGCTGC	CCDS14044.1																																																																																				0.711	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		12	84						12	84	---	---	---	---
