#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
DYSF	8291	broad.mit.edu	37	2	71753455	71753455	+	Missense_Mutation	SNP	C	C	T	rs527435707		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71753455C>T	ENST00000258104.3	+	12	1436	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	DYSF_ENST00000413539.2_Missense_Mutation_p.R418W|DYSF_ENST00000409744.1_Missense_Mutation_p.R388W|DYSF_ENST00000409582.3_Missense_Mutation_p.R418W|DYSF_ENST00000394120.2_Missense_Mutation_p.R388W|DYSF_ENST00000409762.1_Missense_Mutation_p.R418W|DYSF_ENST00000410020.3_Missense_Mutation_p.R419W|DYSF_ENST00000429174.2_Missense_Mutation_p.R387W|DYSF_ENST00000409366.1_Missense_Mutation_p.R388W|DYSF_ENST00000409651.1_Missense_Mutation_p.R419W|DYSF_ENST00000410041.1_Missense_Mutation_p.R419W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	387	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.		FRAED -> Y (in MMD1). {ECO:0000269|PubMed:18853459}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAGGTCTTCCGGGCCGAGGA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		11718	0.0		0.0	False		,,,				2504	0.001					ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(1159-1161)Cgg>Tgg		dysferlin							91.0	101.0	97.0					2																	71753455		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71753455C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1159C>T	2.37:g.71753455C>T	ENSP00000258104:p.Arg387Trp					DYSF_ENST00000394120.2_Missense_Mutation_p.R388W|DYSF_ENST00000409762.1_Missense_Mutation_p.R418W|DYSF_ENST00000410020.3_Missense_Mutation_p.R419W|DYSF_ENST00000413539.2_Missense_Mutation_p.R418W|DYSF_ENST00000409366.1_Missense_Mutation_p.R388W|DYSF_ENST00000409582.3_Missense_Mutation_p.R418W|DYSF_ENST00000410041.1_Missense_Mutation_p.R419W|DYSF_ENST00000409651.1_Missense_Mutation_p.R419W|DYSF_ENST00000429174.2_Missense_Mutation_p.R387W|DYSF_ENST00000409744.1_Missense_Mutation_p.R388W	p.R387W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			12	1436	+			387		FRAED -> Y (in MMD1).	C2 3.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.1159C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198088	0.58126	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.47	-6.83	0.01693	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.052440	0.64402	D	0.000001	D	0.89480	0.6727	M	0.89601	3.045	0.45837	D	0.998704	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.998;0.998;0.998;0.997;0.999;0.998;0.999;0.997;0.998;0.999;0.997;0.997;0.998;0.999	D;D;D;P;D;D;D;D;D;D;D;P;D;D	0.75020	0.91;0.91;0.91;0.858;0.985;0.98;0.985;0.97;0.91;0.98;0.91;0.858;0.91;0.946	D	0.90351	0.4366	10	0.87932	D	0	-19.0539	19.8974	0.96972	0.2817:0.7183:0.0:0.0	.	419;419;388;388;419;388;418;387;418;418;387;387;388;387	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	W	418;418;418;387;387;419;388;388;388;419;419	ENSP00000407046:R418W;ENSP00000387137:R418W;ENSP00000386547:R418W;ENSP00000398305:R387W;ENSP00000258104:R387W;ENSP00000386683:R419W;ENSP00000377678:R388W;ENSP00000386285:R388W;ENSP00000386512:R388W;ENSP00000386881:R419W;ENSP00000386617:R419W	ENSP00000258104:R387W	R	+	1	2	DYSF	71606963	0.994000	0.37717	0.903000	0.35520	0.211000	0.24417	0.422000	0.21296	-0.835000	0.04234	-0.188000	0.12872	CGG		0.672	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		83	246	0	0	0	1	0	83	246				
PTPRS	5802	broad.mit.edu	37	19	5244109	5244109	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5244109C>T	ENST00000587303.1	-	10	1472	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H	PTPRS_ENST00000372412.4_Missense_Mutation_p.R459H|PTPRS_ENST00000588012.1_Missense_Mutation_p.R445H|PTPRS_ENST00000592099.1_Missense_Mutation_p.R445H|PTPRS_ENST00000348075.2_Missense_Mutation_p.R445H|PTPRS_ENST00000353284.2_Missense_Mutation_p.R445H|PTPRS_ENST00000357368.4_Missense_Mutation_p.R458H|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.R454H			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	458	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GCGGTAGCCGCGGATCAGGCC	0.682																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1375-1377)cGc>cAc		protein tyrosine phosphatase, receptor type, S							83.0	78.0	80.0					19																	5244109		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244109C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1373G>A	19.37:g.5244109C>T	ENSP00000467537:p.Arg458His					PTPRS_ENST00000353284.2_Missense_Mutation_p.R445H|PTPRS_ENST00000357368.4_Missense_Mutation_p.R458H|PTPRS_ENST00000348075.2_Missense_Mutation_p.R445H|PTPRS_ENST00000592099.1_Missense_Mutation_p.R445H|PTPRS_ENST00000262963.6_Missense_Mutation_p.R454H|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.R445H|PTPRS_ENST00000587303.1_Missense_Mutation_p.R458H	p.R459H			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1609	-			458			Fibronectin type-III 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1376G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777583	0.49786	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	3.84	3.84	0.44239	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.202030	0.32671	U	0.005783	T	0.69860	0.3158	M	0.71206	2.165	0.22531	N	0.999012	D;D;D;D;D;D	0.89917	0.963;0.961;0.989;1.0;0.999;0.995	P;P;P;D;D;P	0.74023	0.707;0.707;0.615;0.965;0.982;0.823	T	0.63139	-0.6704	10	0.44086	T	0.13	.	15.9215	0.79580	0.0:1.0:0.0:0.0	.	458;445;449;445;458;471	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	H	471;459;458;458;458;454;445;458;449;445	ENSP00000361489:R459H;ENSP00000349932:R458H;ENSP00000262963:R454H;ENSP00000269907:R445H;ENSP00000327313:R445H	ENSP00000262963:R454H	R	-	2	0	PTPRS	5195109	0.999000	0.42202	0.994000	0.49952	0.095000	0.18619	5.447000	0.66606	1.999000	0.58509	0.462000	0.41574	CGC		0.682	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			34	163	0	0	0	1	0	34	163				
PLB1	151056	broad.mit.edu	37	2	28785936	28785936	+	Silent	SNP	C	C	T	rs147698393		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:28785936C>T	ENST00000327757.5	+	18	1220	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	PLB1_ENST00000422425.2_Silent_p.N403N|PLB1_ENST00000329020.6_Silent_p.N80N	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	392	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGACATCAACGTAATTGGAG	0.488																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(1207-1209)aaC>aaT		phospholipase B1		C	,	1,4405	2.1+/-5.4	0,1,2202	79.0	77.0	78.0		1209,1176	-0.9	0.3	2	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PLB1	NM_001170585.1,NM_153021.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	403/1448,392/1459	28785936	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28785936C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1176C>T	2.37:g.28785936C>T						PLB1_ENST00000329020.6_Silent_p.N80N|PLB1_ENST00000327757.5_Silent_p.N392N	p.N403N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			18	1253	+	Acute lymphoblastic leukemia(172;0.155)		392			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	c.1209C>T	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	0.212	-1.035572	0.02029	2.27E-4	0.0	ENSG00000163803	ENST00000404858	.	.	.	5.23	-0.936	0.10419	.	.	.	.	.	T	0.39937	0.1097	.	.	.	0.43874	D	0.996482	.	.	.	.	.	.	T	0.25257	-1.0137	4	.	.	.	-9.4253	1.3019	0.02080	0.1597:0.2767:0.2989:0.2647	.	.	.	.	M	402	.	.	T	+	2	0	PLB1	28639440	0.913000	0.31002	0.287000	0.24848	0.093000	0.18481	-0.324000	0.07986	-0.161000	0.10983	-2.118000	0.00350	ACG		0.488	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			20	85	0	0	0	1	0	20	85				
POLE	5426	broad.mit.edu	37	12	133250239	133250239	+	Silent	SNP	G	G	A	rs371586756		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133250239G>A	ENST00000320574.5	-	13	1324	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	POLE_ENST00000535270.1_Silent_p.A400A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	427					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGGCCTTGGCGGCCGCCTTGA	0.582								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(1279-1281)gcC>gcT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit		G		0,4406		0,0,2203	152.0	142.0	145.0		1281	-11.2	0.8	12		145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	POLE	NM_006231.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		427/2287	133250239	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133250239G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1281C>T	12.37:g.133250239G>A						POLE_ENST00000535270.1_Silent_p.A400A	p.A427A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	13	1324	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	427					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.1281C>T	CCDS9278.1																																																																																				0.582	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		124	209	0	0	0	1	0	124	209				
LAMA5	3911	broad.mit.edu	37	20	60905854	60905854	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60905854C>T	ENST00000252999.3	-	30	3863	c.3797G>A	c.(3796-3798)cGg>cAg	p.R1266Q	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1266	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGTGGGGGGCCGAGGTCGGGG	0.697																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(3796-3798)cGg>cAg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						9.0	13.0	12.0					20																	60905854		2132	4239	6371	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60905854C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3797G>A	20.37:g.60905854C>T	ENSP00000252999:p.Arg1266Gln						p.R1266Q	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		30	3863	-	Breast(26;1.57e-08)		1266			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.3797G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893993	0.33442	.	.	ENSG00000130702	ENST00000252999	T	0.18960	2.18	5.15	5.15	0.70609	.	0.201859	0.41294	D	0.000903	T	0.20373	0.0490	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	P	0.59546	0.859	T	0.11494	-1.0585	10	0.18276	T	0.48	.	13.5729	0.61858	0.1557:0.8443:0.0:0.0	.	1266	O15230	LAMA5_HUMAN	Q	1266	ENSP00000252999:R1266Q	ENSP00000252999:R1266Q	R	-	2	0	LAMA5	60339249	1.000000	0.71417	0.999000	0.59377	0.129000	0.20672	2.641000	0.46587	2.385000	0.81259	0.655000	0.94253	CGG		0.697	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	7	0	0	0	1	0	3	7				
ADAMTSL3	57188	broad.mit.edu	37	15	84651306	84651306	+	Missense_Mutation	SNP	G	G	A	rs150618994		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:84651306G>A	ENST00000286744.5	+	21	3150	c.2926G>A	c.(2926-2928)Gac>Aac	p.D976N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D976N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	976	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCTGCCCCCGACATCGGCGT	0.567																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(2926-2928)Gac>Aac		ADAMTS-like 3		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	80.0	81.0	81.0		2926	5.1	0.9	15	dbSNP_134	81	0,8600		0,0,4300	no	missense	ADAMTSL3	NM_207517.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	976/1692	84651306	1,13005	2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651306G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2926G>A	15.37:g.84651306G>A	ENSP00000286744:p.Asp976Asn					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D976N	p.D976N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3150	+			976			Ig-like C2-type 1.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.2926G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810721	0.70797	2.27E-4	0.0	ENSG00000156218	ENST00000286744	D	0.85484	-1.99	5.05	5.05	0.67936	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000335	D	0.94712	0.8294	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95906	0.8919	10	0.62326	D	0.03	.	18.4388	0.90656	0.0:0.0:1.0:0.0	.	976;976	P82987-2;P82987	.;ATL3_HUMAN	N	976	ENSP00000286744:D976N	ENSP00000286744:D976N	D	+	1	0	ADAMTSL3	82442310	1.000000	0.71417	0.869000	0.34112	0.057000	0.15508	6.786000	0.75094	2.338000	0.79540	0.563000	0.77884	GAC		0.567	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		68	116	0	0	0	1	0	68	116				
HADHA	3030	broad.mit.edu	37	2	26414365	26414365	+	Silent	SNP	C	C	T	rs186499456		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26414365C>T	ENST00000380649.3	-	19	2262	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	711					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGACAAGGCGGGAAGCCAA	0.552													c|||	1	0.000199681	0.0	0.0014	5008	,	,		19000	0.0		0.0	False		,,,				2504	0.0					ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	GRCh37	CI972619	HADHA	I	rs186499456	c.(2131-2133)ccG>ccA		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						63.0	57.0	59.0					2																	26414365		2203	4300	6503	SO:0001819	synonymous_variant	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26414365C>T	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.2133G>A	2.37:g.26414365C>T							p.P711P	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			19	2262	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		711					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000380649.3	37	c.2133G>A	CCDS1721.1																																																																																				0.552	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		47	43	0	0	0	1	0	47	43				
ANKRD11	29123	broad.mit.edu	37	16	89347172	89347172	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89347172C>T	ENST00000301030.4	-	9	6238	c.5778G>A	c.(5776-5778)ccG>ccA	p.P1926P	ANKRD11_ENST00000378330.2_Silent_p.P1926P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1926	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCTGGGCTCCGGGGGGATGA	0.711																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5776-5778)ccG>ccA		ankyrin repeat domain 11							21.0	26.0	25.0					16																	89347172		2071	4093	6164	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89347172C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5778G>A	16.37:g.89347172C>T						ANKRD11_ENST00000378330.2_Silent_p.P1926P	p.P1926P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	6238	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1926			Pro-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.5778G>A	CCDS32513.1																																																																																				0.711	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		10	101	0	0	0	1	0	10	101				
RBM33	155435	broad.mit.edu	37	7	155457901	155457901	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:155457901G>A	ENST00000401878.3	+	2	274	c.76G>A	c.(76-78)Gcg>Acg	p.A26T	RBM33_ENST00000392759.3_Missense_Mutation_p.A26T|RBM33_ENST00000287912.3_Missense_Mutation_p.A26T	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	26							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TAAGCCTGGCGCGGAACGGTC	0.453																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(76-78)Gcg>Acg		RNA binding motif protein 33							117.0	125.0	122.0					7																	155457901		2028	4185	6213	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155457901G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.76G>A	7.37:g.155457901G>A	ENSP00000384160:p.Ala26Thr					RBM33_ENST00000287912.3_Missense_Mutation_p.A26T|RBM33_ENST00000392759.3_Missense_Mutation_p.A26T	p.A26T	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	2	274	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	26					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.76G>A	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552632	0.86127	.	.	ENSG00000184863	ENST00000287912;ENST00000401878;ENST00000392759	T;T;T	0.31769	1.48;1.48;1.48	5.95	5.95	0.96441	.	.	.	.	.	T	0.53029	0.1771	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.49011	-0.8983	9	0.72032	D	0.01	.	19.1646	0.93551	0.0:0.0:1.0:0.0	.	26;26	Q96EV2;Q96EV2-2	RBM33_HUMAN;.	T	26	ENSP00000287912:A26T;ENSP00000384160:A26T;ENSP00000376513:A26T	ENSP00000287912:A26T	A	+	1	0	RBM33	155150662	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	6.140000	0.71738	2.824000	0.97209	0.655000	0.94253	GCG		0.453	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		41	59	0	0	0	1	0	41	59				
AGBL1	123624	broad.mit.edu	37	15	86800128	86800128	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:86800128G>A	ENST00000441037.2	+	7	737	c.642G>A	c.(640-642)gtG>gtA	p.V214V	AGBL1_ENST00000421325.2_Silent_p.V214V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	214					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTCTGTGGTGCTTCAGATCC	0.562																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(640-642)gtG>gtA		ATP/GTP binding protein-like 1							104.0	104.0	104.0					15																	86800128		2070	4203	6273	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86800128G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.642G>A	15.37:g.86800128G>A						AGBL1_ENST00000421325.2_Silent_p.V214V	p.V214V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			7	737	+			214					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.642G>A	CCDS58398.1																																																																																				0.562	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		8	39	0	0	0	1	0	8	39				
PRR25	388199	broad.mit.edu	37	16	855739	855739	+	Silent	SNP	G	G	A	rs544058956		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:855739G>A	ENST00000301698.1	+	1	297	c.297G>A	c.(295-297)ccG>ccA	p.P99P		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	99										large_intestine(1)|lung(1)|skin(1)	3						CAGCGCAGCCGCTCGCAAATG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17571	0.0		0.0	False		,,,				2504	0.001					ENST00000301698.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(295-297)ccG>ccA		proline rich 25							21.0	27.0	25.0					16																	855739		1939	4140	6079	SO:0001819	synonymous_variant	388199							g.chr16:855739G>A	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.297G>A	16.37:g.855739G>A							p.P99P	NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN			1	297	+			99						Silent	SNP	ENST00000301698.1	37	c.297G>A	CCDS45372.1																																																																																				0.647	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		19	26	0	0	0	1	0	19	26				
ZFYVE19	84936	broad.mit.edu	37	15	41102150	41102150	+	Missense_Mutation	SNP	C	C	T	rs199947417	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:41102150C>T	ENST00000355341.4	+	4	1054	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.R10C|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.R175C|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.R185C|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.R162C	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	185					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)	p.R185C(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCACGACTCCGCCAGGAGAA	0.602													C|||	3	0.000599042	0.0	0.0029	5008	,	,		20024	0.0		0.001	False		,,,				2504	0.0					ENST00000355341.4																			3	Substitution - Missense(3)	p.R185C(3)	lung(2)|skin(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(553-555)Cgc>Tgc		zinc finger, FYVE domain containing 19		C	CYS/ARG	1,4303		0,1,2151	67.0	74.0	72.0		553	5.7	1.0	15		72	13,8523		0,13,4255	yes	missense	ZFYVE19	NM_001077268.1	180	0,14,6406	TT,TC,CC		0.1523,0.0232,0.109	probably-damaging	185/472	41102150	14,12826	2152	4268	6420	SO:0001583	missense	84936						zinc ion binding	g.chr15:41102150C>T	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.553C>T	15.37:g.41102150C>T	ENSP00000347498:p.Arg185Cys					ZFYVE19_ENST00000336455.5_Missense_Mutation_p.R175C|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.R10C|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.R162C|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.R185C	p.R185C	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1054	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	185					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Missense_Mutation	SNP	ENST00000355341.4	37	c.553C>T	CCDS42025.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.0	4.088648	0.76756	2.32E-4	0.001523	ENSG00000166140	ENST00000355341;ENST00000299173;ENST00000336455	T;T;T	0.18174	2.23;2.25;2.23	5.7	5.7	0.88788	.	0.046980	0.85682	D	0.000000	T	0.40119	0.1104	M	0.70275	2.135	0.52099	D	0.999941	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.942;0.968	T	0.15607	-1.0431	10	0.87932	D	0	-15.422	12.2983	0.54860	0.1692:0.8308:0.0:0.0	.	175;185;185	Q96K21-2;Q96K21-3;Q96K21	.;.;ZFY19_HUMAN	C	185;185;175	ENSP00000347498:R185C;ENSP00000299173:R185C;ENSP00000337824:R175C	ENSP00000299173:R185C	R	+	1	0	ZFYVE19	38889442	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.052000	0.57420	2.692000	0.91855	0.655000	0.94253	CGC		0.602	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		45	72	0	0	0	1	0	45	72				
PAPLN	89932	broad.mit.edu	37	14	73726060	73726060	+	Missense_Mutation	SNP	G	G	A	rs151048072		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:73726060G>A	ENST00000554301.1	+	15	1955	c.1792G>A	c.(1792-1794)Gac>Aac	p.D598N	PAPLN_ENST00000427855.1_Missense_Mutation_p.D598N|PAPLN_ENST00000340738.5_Missense_Mutation_p.D571N|PAPLN_ENST00000381166.3_Missense_Mutation_p.D598N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D598N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	598						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCCCAGGGGCGACCAAGGCAC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15297	0.0		0.0	False		,,,				2504	0.001					ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1792-1794)Gac>Aac		papilin, proteoglycan-like sulfated glycoprotein		G	ASN/ASP	0,4406		0,0,2203	52.0	55.0	54.0		1711	-0.3	0.0	14	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAPLN	NM_173462.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	571/1252	73726060	1,13005	2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73726060G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1792G>A	14.37:g.73726060G>A	ENSP00000451803:p.Asp598Asn					PAPLN_ENST00000340738.5_Missense_Mutation_p.D571N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D598N|PAPLN_ENST00000381166.3_Missense_Mutation_p.D598N|PAPLN_ENST00000554301.1_Missense_Mutation_p.D598N	p.D598N			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	16	1894	+			598					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1792G>A		.	.	.	.	.	.	.	.	.	.	G	0.186	-1.057574	0.01965	0.0	1.16E-4	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.62639	0.01;0.01;0.32;0.01;0.15	0.137	-0.274	0.12910	.	.	.	.	.	T	0.44973	0.1319	L	0.44542	1.39	0.09310	N	1	B;B;B	0.13594	0.003;0.004;0.008	B;B;B	0.06405	0.002;0.001;0.002	T	0.26326	-1.0106	8	0.17369	T	0.5	.	.	.	.	.	598;598;571	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	N	571;598;598;598;598	ENSP00000345395:D571N;ENSP00000403403:D598N;ENSP00000370558:D598N;ENSP00000451803:D598N;ENSP00000451729:D598N	ENSP00000216658:D598N	D	+	1	0	PAPLN	72795813	0.011000	0.17503	0.006000	0.13384	0.031000	0.12232	1.010000	0.29898	-0.750000	0.04740	-0.734000	0.03567	GAC		0.672	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		57	28	0	0	0	1	0	57	28				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	72	0	0	0	1	0	5	72				
CNN1	1264	broad.mit.edu	37	19	11660568	11660568	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:11660568C>T	ENST00000252456.2	+	7	1063	c.852C>T	c.(850-852)ccC>ccT	p.P284P	CNN1_ENST00000592923.1_Silent_p.P234P|CNN1_ENST00000535659.2_Silent_p.P234P|CNN1_ENST00000544952.1_Silent_p.P264P	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	284					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TGGGTGAGCCCGCCCACAACC	0.632																																						ENST00000592923.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(700-702)ccC>ccT		calponin 1, basic, smooth muscle							95.0	81.0	85.0					19																	11660568		2203	4300	6503	SO:0001819	synonymous_variant	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11660568C>T	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.852C>T	19.37:g.11660568C>T						CNN1_ENST00000535659.2_Silent_p.P234P|CNN1_ENST00000252456.2_Silent_p.P284P|CNN1_ENST00000544952.1_Silent_p.P264P	p.P234P			P51911	CNN1_HUMAN			8	1279	+			284					B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Silent	SNP	ENST00000252456.2	37	c.702C>T	CCDS12263.1																																																																																				0.632	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299		27	133	0	0	0	1	0	27	133				
DHCR24	1718	broad.mit.edu	37	1	55337128	55337128	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:55337128G>A	ENST00000371269.3	-	5	869	c.771C>T	c.(769-771)caC>caT	p.H257H	DHCR24_ENST00000535035.1_Silent_p.H216H|DHCR24_ENST00000537443.1_Silent_p.H89H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	257					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCTGGGACTCGTGGGTGAACT	0.592																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(769-771)caC>caT		24-dehydrocholesterol reductase							77.0	70.0	73.0					1																	55337128		2203	4300	6503	SO:0001819	synonymous_variant	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55337128G>A	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.771C>T	1.37:g.55337128G>A						DHCR24_ENST00000537443.1_Silent_p.H89H|DHCR24_ENST00000535035.1_Silent_p.H216H	p.H257H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			5	869	-			257					B7Z817|D3DQ51|Q9HBA8	Silent	SNP	ENST00000371269.3	37	c.771C>T	CCDS600.1																																																																																				0.592	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		8	98	0	0	0	1	0	8	98				
CCDC88C	440193	broad.mit.edu	37	14	91806240	91806240	+	Silent	SNP	G	G	A	rs368679007		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:91806240G>A	ENST00000389857.6	-	7	698	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	204					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGGTGCACTCGTCCCGCTGGT	0.677																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(610-612)gaC>gaT		coiled-coil domain containing 88C		G		0,4052		0,0,2026	10.0	13.0	12.0		612	-0.2	1.0	14		12	1,8327		0,1,4163	no	coding-synonymous	CCDC88C	NM_001080414.3		0,1,6189	AA,AG,GG		0.012,0.0,0.0081		204/2029	91806240	1,12379	2026	4164	6190	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91806240G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.612C>T	14.37:g.91806240G>A							p.D204D	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			7	698	-		all_cancers(154;0.0468)	204					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.612C>T	CCDS45151.1																																																																																				0.677	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		3	7	0	0	0	1	0	3	7				
PTPRD	5789	broad.mit.edu	37	9	8636794	8636794	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:8636794C>T	ENST00000381196.4	-	10	658	c.115G>A	c.(115-117)Gga>Aga	p.G39R	PTPRD_ENST00000358503.5_Missense_Mutation_p.G39R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G39R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G39R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G39R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G39R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G39R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G39R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G39R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G39R|PTPRD_ENST00000463477.1_Missense_Mutation_p.G39R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G39R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	39	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G39*(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGGCAACTCCGCCAGAGACC	0.413										TSP Lung(15;0.13)																												ENST00000381196.4																			4	Substitution - Nonsense(4)	p.G39*(4)	lung(4)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(115-117)Gga>Aga		protein tyrosine phosphatase, receptor type, D							87.0	90.0	89.0					9																	8636794		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8636794C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.115G>A	9.37:g.8636794C>T	ENSP00000370593:p.Gly39Arg	TSP Lung(15;0.13)				PTPRD_ENST00000355233.5_Missense_Mutation_p.G39R|PTPRD_ENST00000463477.1_Missense_Mutation_p.G39R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G39R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G39R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G39R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G39R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G39R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G39R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G39R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G39R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G39R	p.G39R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	10	658	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	39			Ig-like C2-type 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.115G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948245	0.92593	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	T;T;T;T;T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.84	5.84	0.93424	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82314	0.5010	L	0.41356	1.27	0.80722	D	1	D;D;D;D;D;P;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.607;1.0;1.0;0.995;1.0	D;D;D;D;D;B;D;D;P;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.039;1.0;0.994;0.576;0.997	T	0.79383	-0.1826	9	.	.	.	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	39;39;39;39;39;39;39;39;39;39	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	39	ENSP00000370593:G39R;ENSP00000348812:G39R;ENSP00000353187:G39R;ENSP00000351293:G39R;ENSP00000347373:G39R;ENSP00000380741:G39R;ENSP00000380735:G39R;ENSP00000440515:G39R;ENSP00000438164:G39R;ENSP00000417093:G39R;ENSP00000380731:G39R;ENSP00000417661:G39R;ENSP00000417890:G39R	.	G	-	1	0	PTPRD	8626794	1.000000	0.71417	0.967000	0.41034	0.966000	0.64601	7.776000	0.85560	2.764000	0.94973	0.650000	0.86243	GGA		0.413	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			50	96	0	0	0	1	0	50	96				
CCL20	6364	broad.mit.edu	37	2	228678691	228678691	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:228678691G>A	ENST00000358813.4	+	1	122	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	CCL20_ENST00000409189.3_Missense_Mutation_p.G22S			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	22					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CCACCTCTGCGGCGAATCAGA	0.473																																						ENST00000409189.3																			0				cervix(1)|lung(2)	3						c.(64-66)Ggc>Agc		chemokine (C-C motif) ligand 20							169.0	158.0	162.0					2																	228678691		2203	4300	6503	SO:0001583	missense	6364				cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity	g.chr2:228678691G>A	D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"""Chemokine ligands"", ""Endogenous ligands"""	10619	protein-coding gene	gene with protein product		601960	"""small inducible cytokine subfamily A (Cys-Cys), member 20"""	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.64G>A	2.37:g.228678691G>A	ENSP00000351671:p.Gly22Ser					CCL20_ENST00000358813.4_Missense_Mutation_p.G22S	p.G22S	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	1	134	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	22					Q53S51|Q99664	Missense_Mutation	SNP	ENST00000358813.4	37	c.64G>A	CCDS2469.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.259751	0.00262	.	.	ENSG00000115009	ENST00000409189;ENST00000358813	T;T	0.03413	4.12;3.94	5.39	0.318	0.15867	.	0.582922	0.18617	N	0.135982	T	0.02455	0.0075	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.01281	0.0;0.0	T	0.47459	-0.9116	9	0.19147	T	0.46	-5.3013	9.7403	0.40413	0.666:0.0:0.334:0.0	.	22;22	P78556-2;P78556	.;CCL20_HUMAN	S	22	ENSP00000386273:G22S;ENSP00000351671:G22S	ENSP00000351671:G22S	G	+	1	0	CCL20	228386935	0.006000	0.16342	0.239000	0.24122	0.000000	0.00434	0.383000	0.20651	-0.109000	0.12044	-3.266000	0.00048	GGC		0.473	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331641.1	NM_004591		24	258	0	0	0	1	0	24	258				
ELP4	26610	broad.mit.edu	37	11	31805009	31805009	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:31805009C>T	ENST00000350638.5	+	10	1247	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S	ELP4_ENST00000395934.2_3'UTR|Z83307.3_ENST00000606377.1_lincRNA|ELP4_ENST00000379163.5_Missense_Mutation_p.R452C	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	404					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TGGCAGAATCCGCCAAGCGGC	0.522																																						ENST00000379163.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(1354-1356)Cgc>Tgc		elongator acetyltransferase complex subunit 4							72.0	79.0	77.0					11																	31805009		1922	4137	6059	SO:0001819	synonymous_variant	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31805009C>T	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.1212C>T	11.37:g.31805009C>T						ELP4_ENST00000350638.5_Silent_p.S404S|ELP4_ENST00000395934.2_3'UTR	p.R452C			Q96EB1	ELP4_HUMAN			11	1369	+	Lung SC(675;0.225)		349					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.1354C>T	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338080	0.60963	.	.	ENSG00000109911	ENST00000379163	T	0.48836	0.8	5.73	1.63	0.23807	.	.	.	.	.	T	0.36248	0.0960	.	.	.	0.80722	D	1	B	0.14438	0.01	B	0.04013	0.001	T	0.21827	-1.0234	8	0.87932	D	0	.	6.8463	0.23990	0.1228:0.4561:0.3566:0.0646	.	452	B4E3W0	.	C	452	ENSP00000368461:R452C	ENSP00000368461:R452C	R	+	1	0	ELP4	31761585	0.276000	0.24211	0.024000	0.17045	0.934000	0.57294	-0.073000	0.11468	0.401000	0.25424	0.557000	0.71058	CGC		0.522	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		42	125	0	0	0	1	0	42	125				
PCDHA6	56142	broad.mit.edu	37	5	140209817	140209817	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140209817C>T	ENST00000529310.1	+	1	2255	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	714					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T714M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTCCTCACGCTACTGCTG	0.706																																						ENST00000529310.1																			2	Substitution - Missense(2)	p.T714M(2)	breast(2)	NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2140-2142)aCg>aTg									56.0	56.0	56.0					5																	140209817		2201	4298	6499	SO:0001583	missense	0							g.chr5:140209817C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2141C>T	5.37:g.140209817C>T	ENSP00000433378:p.Thr714Met					PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	p.T714M	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2255	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2141C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	7.241	0.601231	0.13939	.	.	ENSG00000081842	ENST00000529310	T	0.14516	2.5	4.12	-1.33	0.09172	.	0.217169	0.21872	U	0.067861	T	0.17023	0.0409	M	0.93978	3.48	0.09310	N	0.999999	B;P	0.51537	0.255;0.946	B;B	0.37304	0.052;0.246	T	0.23547	-1.0185	10	0.72032	D	0.01	.	3.1076	0.06347	0.1215:0.5406:0.1185:0.2195	.	714;714	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	M	714	ENSP00000433378:T714M	ENSP00000433378:T714M	T	+	2	0	PCDHA6	140190001	.	.	0.240000	0.24138	0.022000	0.10575	.	.	-0.081000	0.12662	-0.683000	0.03753	ACG		0.706	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		81	128	0	0	0	1	0	81	128				
XPOT	11260	broad.mit.edu	37	12	64811871	64811871	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:64811871G>A	ENST00000332707.5	+	5	775	c.246G>A	c.(244-246)acG>acA	p.T82T		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	82	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTAGGGAGACGCTCATATCAT	0.323																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(244-246)acG>acA		exportin, tRNA							85.0	85.0	85.0					12																	64811871		2203	4299	6502	SO:0001819	synonymous_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64811871G>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.246G>A	12.37:g.64811871G>A							p.T82T	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	5	775	+			82			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	c.246G>A	CCDS31852.1																																																																																				0.323	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		32	71	0	0	0	1	0	32	71				
PCSK7	9159	broad.mit.edu	37	11	117100140	117100140	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:117100140G>A	ENST00000320934.3	-	3	1051	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	141		Cleavage; by autolysis. {ECO:0000250}.			peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGGACGCTGCGCTTGGCCCGC	0.617			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(421-423)Cgc>Tgc		proprotein convertase subtilisin/kexin type 7							87.0	91.0	89.0					11																	117100140		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117100140G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.421C>T	11.37:g.117100140G>A	ENSP00000325917:p.Arg141Cys						p.R141C	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	3	1051	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	141				Cleavage; by autolysis (By similarity).	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.421C>T	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.097102	0.56075	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	T;T	0.64438	-0.1;0.95	4.06	4.06	0.47325	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.000000	0.85682	D	0.000000	T	0.81361	0.4806	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.84864	0.0821	10	0.87932	D	0	-24.0593	10.3974	0.44209	0.0:0.0:0.8044:0.1956	.	141	Q16549	PCSK7_HUMAN	C	141	ENSP00000325917:R141C;ENSP00000431181:R141C	ENSP00000325917:R141C	R	-	1	0	PCSK7	116605350	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	2.830000	0.48136	2.097000	0.63578	0.462000	0.41574	CGC		0.617	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		48	170	0	0	0	1	0	48	170				
ASUN	55726	broad.mit.edu	37	12	27069110	27069110	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:27069110C>T	ENST00000261191.7	-	11	1609	c.1073G>A	c.(1072-1074)cGt>cAt	p.R358H	ASUN_ENST00000539625.1_Missense_Mutation_p.R257H	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	358					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TAAAACAGAACGACCTGTCAA	0.338																																						ENST00000261191.7																			0											c.(1072-1074)cGt>cAt		asunder spermatogenesis regulator							66.0	56.0	59.0					12																	27069110		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27069110C>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1073G>A	12.37:g.27069110C>T	ENSP00000261191:p.Arg358His					ASUN_ENST00000539625.1_Missense_Mutation_p.R257H	p.R358H	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			11	1609	-			358					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.1073G>A	CCDS8708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.415490|5.415490	0.96092|0.96092	.|.	.|.	ENSG00000064102|ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625|ENST00000335745	T;T;T|.	0.65732|.	-0.17;-0.17;-0.17|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82268|0.82268	0.5000|0.5000	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.82938|0.82938	-0.0209|-0.0209	10|6	0.87932|0.87932	D|D	0|0	-19.7923|-19.7923	20.5471|20.5471	0.99284|0.99284	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	358|.	Q9NVM9|.	M89BB_HUMAN|.	H|I	62;358;257|3	ENSP00000445645:R62H;ENSP00000261191:R358H;ENSP00000443724:R257H|.	ENSP00000261191:R358H|ENSP00000336713:V3I	R|V	-|-	2|1	0|0	C12orf11|C12orf11	26960377|26960377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.758000|7.758000	0.85224|0.85224	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.338	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		16	39	0	0	0	1	0	16	39				
ALMS1	7840	broad.mit.edu	37	2	73717091	73717091	+	Nonsense_Mutation	SNP	C	C	T	rs549857076		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:73717091C>T	ENST00000264448.6	+	10	8113	c.8002C>T	c.(8002-8004)Cga>Tga	p.R2668*	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.R2626*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2668					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAAGGTCTTCGAATGCCATT	0.378																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(8002-8004)Cga>Tga		Alstrom syndrome 1							125.0	117.0	119.0					2																	73717091		1838	4082	5920	SO:0001587	stop_gained	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717091C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8002C>T	2.37:g.73717091C>T	ENSP00000264448:p.Arg2668*					ALMS1_ENST00000409009.1_Nonsense_Mutation_p.R2626*	p.R2668*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	8113	+			2668					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	c.8002C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	36	5.924769	0.97110	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	.	.	.	4.45	3.53	0.40419	.	0.623002	0.13512	N	0.382420	.	.	.	.	.	.	0.58432	D	0.99999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.282	0.43545	0.0:0.7074:0.2926:0.0	.	.	.	.	X	2626;2668	.	ENSP00000264448:R2668X	R	+	1	2	ALMS1	73570599	0.914000	0.31030	0.666000	0.29783	0.462000	0.32619	1.201000	0.32259	1.324000	0.45282	0.650000	0.86243	CGA		0.378	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		95	176	0	0	0	1	0	95	176				
ERBB2	2064	broad.mit.edu	37	17	37866098	37866098	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37866098C>T	ENST00000269571.5	+	5	766	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	ERBB2_ENST00000406381.2_Missense_Mutation_p.R173C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R173C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R188C|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000578199.1_Missense_Mutation_p.R173C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R173C|ERBB2_ENST00000540042.1_Missense_Mutation_p.R173C|ERBB2_ENST00000584450.1_Missense_Mutation_p.R203C			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	203					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TAAGGGCTCCCGCTGCTGGGG	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(517-519)Cgc>Tgc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						86.0	78.0	81.0					17																	37866098		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37866098C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.607C>T	17.37:g.37866098C>T	ENSP00000269571:p.Arg203Cys	TCGA GBM(5;<1E-08)				ERBB2_ENST00000540042.1_Missense_Mutation_p.R173C|ERBB2_ENST00000269571.5_Missense_Mutation_p.R203C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R173C|ERBB2_ENST00000578199.1_Missense_Mutation_p.R173C|ERBB2_ENST00000584450.1_Missense_Mutation_p.R203C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R173C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R188C|ERBB2_ENST00000445658.2_Intron	p.R173C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	7	1027	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	203					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.517C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687776	0.29962	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	5.08	-3.87	0.04218	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.81922	0.4925	L	0.52126	1.63	0.09310	N	1	P;P;D;D	0.89917	0.897;0.897;0.98;1.0	B;B;B;P	0.62813	0.354;0.354;0.159;0.907	T	0.69953	-0.5005	9	0.49607	T	0.09	.	1.4207	0.02311	0.2047:0.3703:0.2216:0.2034	.	173;188;203;203	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	C	173;188;203;173;173	ENSP00000385185:R173C;ENSP00000446466:R188C;ENSP00000269571:R203C;ENSP00000443562:R173C;ENSP00000446382:R173C	ENSP00000269571:R203C	R	+	1	0	ERBB2	35119624	0.000000	0.05858	0.000000	0.03702	0.275000	0.26752	-0.290000	0.08354	-0.206000	0.10203	0.462000	0.41574	CGC		0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			74	18	0	0	0	1	0	74	18				
CENPT	80152	broad.mit.edu	37	16	67863714	67863714	+	Silent	SNP	G	G	A	rs374799764		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67863714G>A	ENST00000562787.1	-	12	1688	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_ENST00000440851.2_Silent_p.D380D|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000219172.3_Silent_p.D380D|CENPT_ENST00000562947.1_5'Flank	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	380	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTCCTGGCCCGTCAGCCTCAG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19142	0.001		0.0	False		,,,				2504	0.0					ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(1138-1140)gaC>gaT		centromere protein T		G		2,4240		0,2,2119	150.0	161.0	157.0		1140	2.6	0.0	16		157	0,8474		0,0,4237	no	coding-synonymous	CENPT	NM_025082.3		0,2,6356	AA,AG,GG		0.0,0.0471,0.0157		380/562	67863714	2,12714	2121	4237	6358	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67863714G>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1140C>T	16.37:g.67863714G>A						CENPT_ENST00000440851.2_Silent_p.D380D|CENPT_ENST00000219172.3_Silent_p.D380D|CENPT_ENST00000564817.1_Intron	p.D380D	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	12	1688	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	380					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1140C>T	CCDS42182.1																																																																																				0.612	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		57	149	0	0	0	1	0	57	149				
LRRK1	79705	broad.mit.edu	37	15	101567987	101567987	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:101567987G>A	ENST00000388948.3	+	19	3030	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K	LRRK1_ENST00000284395.5_Missense_Mutation_p.E888K	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAAGGACTACGAGGACCTGCA	0.617																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2662-2664)Gag>Aag		leucine-rich repeat kinase 1							24.0	34.0	31.0					15																	101567987		2160	4254	6414	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101567987G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2671G>A	15.37:g.101567987G>A	ENSP00000373600:p.Glu891Lys					LRRK1_ENST00000388948.3_Missense_Mutation_p.E891K	p.E888K			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		20	3062	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		891						Missense_Mutation	SNP	ENST00000388948.3	37	c.2662G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575125	0.65878	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.74315	-0.8;-0.83	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.81435	-0.0934	10	0.22706	T	0.39	.	17.5082	0.87753	0.0:0.0:1.0:0.0	.	891	Q38SD2	LRRK1_HUMAN	K	891;888	ENSP00000373600:E891K;ENSP00000284395:E888K	ENSP00000284395:E888K	E	+	1	0	LRRK1	99385510	1.000000	0.71417	0.992000	0.48379	0.524000	0.34500	9.169000	0.94788	2.195000	0.70347	0.563000	0.77884	GAG		0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		5	10	0	0	0	1	0	5	10				
FBN3	84467	broad.mit.edu	37	19	8201185	8201185	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8201185C>T	ENST00000600128.1	-	12	1768	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	FBN3_ENST00000270509.2_Missense_Mutation_p.E452K|FBN3_ENST00000601739.1_Missense_Mutation_p.E452K			Q75N90	FBN3_HUMAN	fibrillin 3	452	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGGTGCATTCGTCTACATCT	0.677																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1354-1356)Gaa>Aaa		fibrillin 3							67.0	57.0	61.0					19																	8201185		2203	4299	6502	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8201185C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1354G>A	19.37:g.8201185C>T	ENSP00000470498:p.Glu452Lys					FBN3_ENST00000270509.2_Missense_Mutation_p.E452K|FBN3_ENST00000601739.1_Missense_Mutation_p.E452K	p.E452K			Q75N90	FBN3_HUMAN			12	1768	-			452			EGF-like 4; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1354G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	15.91	2.971029	0.53614	.	.	ENSG00000142449	ENST00000270509	D	0.98849	-5.18	3.75	2.69	0.31865	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99036	0.9670	M	0.88377	2.95	0.36848	D	0.887732	D	0.89917	1.0	D	0.81914	0.995	D	0.99941	1.1405	10	0.87932	D	0	.	10.9254	0.47187	0.0:0.9057:0.0:0.0943	.	452	Q75N90	FBN3_HUMAN	K	452	ENSP00000270509:E452K	ENSP00000270509:E452K	E	-	1	0	FBN3	8107185	0.995000	0.38212	0.005000	0.12908	0.114000	0.19823	3.344000	0.52174	0.545000	0.28902	0.462000	0.41574	GAA		0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		37	103	0	0	0	1	0	37	103				
HSPG2	3339	broad.mit.edu	37	1	22168798	22168798	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22168798C>T	ENST00000374695.3	-	68	9065	c.8986G>A	c.(8986-8988)Ggc>Agc	p.G2996S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2996	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGGCCTGGGCCGCTGGCTGCA	0.642																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(8986-8988)Ggc>Agc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						50.0	46.0	47.0					1																	22168798		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22168798C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8986G>A	1.37:g.22168798C>T	ENSP00000363827:p.Gly2996Ser						p.G2996S	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	68	9065	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2996			Ig-like C2-type 15.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8986G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	1.205	-0.631274	0.03584	.	.	ENSG00000142798	ENST00000374695	T	0.12039	2.72	4.95	-3.03	0.05429	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.510461	0.15496	N	0.259295	T	0.06917	0.0176	L	0.31578	0.945	0.09310	N	1	B;B	0.33345	0.115;0.409	B;B	0.29598	0.084;0.104	T	0.39981	-0.9587	10	0.07644	T	0.81	.	10.6881	0.45854	0.0:0.4804:0.0:0.5196	.	936;2996	Q59EG0;P98160	.;PGBM_HUMAN	S	2996	ENSP00000363827:G2996S	ENSP00000363827:G2996S	G	-	1	0	HSPG2	22041385	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.562000	0.05950	-1.117000	0.02965	-0.369000	0.07265	GGC		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		12	63	0	0	0	1	0	12	63				
FLT4	2324	broad.mit.edu	37	5	180046723	180046723	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:180046723G>A	ENST00000261937.6	-	18	2667	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	FLT4_ENST00000393347.3_Silent_p.S863S|FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000502649.1_Silent_p.S863S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	863	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCGAAAGCGGAGGCTTCCA	0.657																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2587-2589)tcC>tcT		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						63.0	66.0	65.0					5																	180046723		2202	4296	6498	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180046723G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2589C>T	5.37:g.180046723G>A						FLT4_ENST00000502649.1_Silent_p.S863S|FLT4_ENST00000393347.3_Silent_p.S863S	p.S863S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	18	2667	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	863			Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.2589C>T	CCDS4457.1																																																																																				0.657	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			84	160	0	0	0	1	0	84	160				
TDRD6	221400	broad.mit.edu	37	6	46656282	46656282	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:46656282C>T	ENST00000316081.6	+	1	417	c.417C>T	c.(415-417)tgC>tgT	p.C139C	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Silent_p.C139C|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	139					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGCAGGCTGCGGCGCGGGCT	0.711																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(415-417)tgC>tgT		tudor domain containing 6							5.0	7.0	7.0					6																	46656282		2022	3917	5939	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656282C>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.417C>T	6.37:g.46656282C>T						TDRD6_ENST00000316081.6_Silent_p.C139C	p.C139C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	671	+			139					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.417C>T	CCDS34470.1																																																																																				0.711	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		4	19	0	0	0	1	0	4	19				
ACAD11	84129	broad.mit.edu	37	3	132361582	132361582	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132361582A>G	ENST00000264990.6	-	3	1285	c.314T>C	c.(313-315)aTa>aCa	p.I105T	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.I105T|ACAD11_ENST00000481970.2_Missense_Mutation_p.I105T|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	105					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCAGTACAGTATAGGCTTGGG	0.328																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(313-315)aTa>aCa		acyl-CoA dehydrogenase family, member 11							94.0	98.0	97.0					3																	132361582		2203	4300	6503	SO:0001583	missense	84129							g.chr3:132361582A>G	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.314T>C	3.37:g.132361582A>G	ENSP00000264990:p.Ile105Thr					ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.I105T|ACAD11_ENST00000481970.2_Missense_Mutation_p.I105T|ACAD11_ENST00000545291.1_5'UTR	p.I105T	NM_032169.4	NP_115545.3					3	1285	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.314T>C	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903781	0.72754	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	T;T;T	0.35048	1.33;1.33;1.33	6.06	6.06	0.98353	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.	.	.	.	T	0.47040	0.1424	M	0.65677	2.01	0.80722	D	1	P;B	0.34699	0.464;0.222	B;B	0.41412	0.356;0.097	T	0.46428	-0.9192	9	0.62326	D	0.03	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	105;105	D6RDI8;Q709F0	.;ACD11_HUMAN	T	105	ENSP00000347636:I105T;ENSP00000264990:I105T;ENSP00000420907:I105T	ENSP00000264990:I105T	I	-	2	0	ACAD11	133844272	1.000000	0.71417	0.943000	0.38184	0.964000	0.63967	8.492000	0.90471	2.324000	0.78689	0.533000	0.62120	ATA		0.328	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		107	31	0	0	0	1	0	107	31				
PRKG2	5593	broad.mit.edu	37	4	82026998	82026998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:82026998G>A	ENST00000395578.1	-	16	2148	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Nonsense_Mutation_p.R258*|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.R678*|PRKG2_ENST00000418486.2_Nonsense_Mutation_p.R649*			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	678	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCCTCAGGTCGTCGTGTTATC	0.423																																						ENST00000395578.1																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(2032-2034)Cga>Tga		protein kinase, cGMP-dependent, type II							131.0	125.0	127.0					4																	82026998		2203	4300	6503	SO:0001587	stop_gained	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82026998G>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.2032C>T	4.37:g.82026998G>A	ENSP00000378945:p.Arg678*					PRKG2_ENST00000418486.2_Nonsense_Mutation_p.R649*|PRKG2_ENST00000545647.1_Nonsense_Mutation_p.R258*|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.R678*	p.R678*			Q13237	KGP2_HUMAN			16	2148	-			678			Protein kinase.		B4DMX3|E7EPE6|O00125|O60916	Nonsense_Mutation	SNP	ENST00000395578.1	37	c.2032C>T	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	g	39	7.320013	0.98210	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	.	.	.	5.4	1.27	0.21489	.	0.051412	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-6.5308	14.8887	0.70590	0.0:0.0:0.4439:0.5561	.	.	.	.	X	678;678;649;258	.	ENSP00000264399:R678X	R	-	1	2	PRKG2	82246022	0.051000	0.20477	0.863000	0.33907	0.890000	0.51754	-0.100000	0.10990	-0.110000	0.12022	0.484000	0.47621	CGA		0.423	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		28	121	0	0	0	1	0	28	121				
NOBOX	135935	broad.mit.edu	37	7	144096159	144096159	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:144096159G>A	ENST00000467773.1	-	8	1352	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	NOBOX_ENST00000483238.1_Silent_p.A419A|NOBOX_ENST00000223140.5_Silent_p.A334A	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	451	Pro-rich.				oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AAGGAAGATCGGCCCTTCGCA	0.632																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(1351-1353)gcC>gcT		NOBOX oogenesis homeobox							11.0	12.0	12.0					7																	144096159		1904	4113	6017	SO:0001819	synonymous_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144096159G>A			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1353C>T	7.37:g.144096159G>A						NOBOX_ENST00000223140.5_Silent_p.A334A|NOBOX_ENST00000483238.1_Silent_p.A419A	p.A451A	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			8	1352	-	Melanoma(164;0.14)		451			Pro-rich.		A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37	c.1353C>T																																																																																					0.632	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		11	25	0	0	0	1	0	11	25				
KMT2D	8085	broad.mit.edu	37	12	49422916	49422916	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49422916A>G	ENST00000301067.7	-	44	14178	c.14179T>C	c.(14179-14181)Tca>Cca	p.S4727P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4727					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CACCGGCCTGAGCCCAGATGA	0.617																																						ENST00000301067.7																			0											c.(14179-14181)Tca>Cca		lysine (K)-specific methyltransferase 2D							45.0	51.0	49.0					12																	49422916		1969	4113	6082	SO:0001583	missense	8085							g.chr12:49422916A>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14179T>C	12.37:g.49422916A>G	ENSP00000301067:p.Ser4727Pro						p.S4727P	NM_003482.3	NP_003473.3					44	14178	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.14179T>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.293680	0.40594	.	.	ENSG00000167548	ENST00000301067	T	0.79141	-1.24	4.91	3.67	0.42095	.	0.000000	0.32314	N	0.006264	T	0.51941	0.1704	N	0.08118	0	0.28029	N	0.934207	P	0.45126	0.851	B	0.36289	0.221	T	0.55679	-0.8103	10	0.87932	D	0	.	5.7495	0.18138	0.5639:0.2862:0.0:0.1499	.	4727	O14686	MLL2_HUMAN	P	4727	ENSP00000301067:S4727P	ENSP00000301067:S4727P	S	-	1	0	MLL2	47709183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.410000	0.59774	1.986000	0.57962	0.455000	0.32223	TCA		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			12	59	0	0	0	1	0	12	59				
ABCA12	26154	broad.mit.edu	37	2	215809802	215809802	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:215809802C>T	ENST00000272895.7	-	49	7485	c.7266G>A	c.(7264-7266)ccG>ccA	p.P2422P	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.P2104P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2422	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.P2422P(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTTCGACTTCGGATCCATGC	0.363																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			1	Substitution - coding silent(1)	p.P2422P(1)	large_intestine(1)	NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(7264-7266)ccG>ccA		ATP-binding cassette, sub-family A (ABC1), member 12							117.0	101.0	106.0					2																	215809802		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215809802C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7266G>A	2.37:g.215809802C>T						AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.P2104P	p.P2422P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	49	7485	-		Renal(323;0.127)	2422			ABC transporter 2.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.7266G>A	CCDS33372.1																																																																																				0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		26	29	0	0	0	1	0	26	29				
ZCCHC9	84240	broad.mit.edu	37	5	80604490	80604490	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:80604490C>T	ENST00000254037.2	+	2	3650	c.495C>T	c.(493-495)caC>caT	p.H165H	ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Silent_p.H165H|ZCCHC9_ENST00000407610.3_Silent_p.H165H|ZCCHC9_ENST00000438268.2_Silent_p.H165H			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	165					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CCACAGAGCACGAAATAACCA	0.448																																						ENST00000254037.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13						c.(493-495)caC>caT		zinc finger, CCHC domain containing 9							96.0	97.0	97.0					5																	80604490		2203	4300	6503	SO:0001819	synonymous_variant	84240						nucleic acid binding|zinc ion binding	g.chr5:80604490C>T	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.495C>T	5.37:g.80604490C>T						ZCCHC9_ENST00000407610.3_Silent_p.H165H|ZCCHC9_ENST00000438268.2_Silent_p.H165H|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Silent_p.H165H	p.H165H			Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	2	3650	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	165					B2RAE7|Q9H027	Silent	SNP	ENST00000254037.2	37	c.495C>T	CCDS4054.1																																																																																				0.448	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		38	54	0	0	0	1	0	38	54				
KIF13B	23303	broad.mit.edu	37	8	28989840	28989840	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:28989840C>T	ENST00000524189.1	-	23	2965	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	976					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCGAAGACTACGTGTCTTTGC	0.388																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(2926-2928)cGt>cAt		kinesin family member 13B							85.0	88.0	87.0					8																	28989840		1806	4073	5879	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28989840C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2927G>A	8.37:g.28989840C>T	ENSP00000427900:p.Arg976His					CTD-2647L4.1_ENST00000523661.1_RNA	p.R976H	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	23	2965	-		Ovarian(32;0.000536)	976					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.2927G>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710779	0.89112	.	.	ENSG00000197892	ENST00000524189	T	0.78924	-1.22	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.83751	0.5322	M	0.75447	2.3	0.80722	D	1	D	0.53745	0.962	P	0.51806	0.68	D	0.86374	0.1725	10	0.62326	D	0.03	.	17.682	0.88246	0.0:1.0:0.0:0.0	.	976	F8VPJ2	.	H	976	ENSP00000427900:R976H	ENSP00000427900:R976H	R	-	2	0	KIF13B	29045759	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.209000	0.77916	2.410000	0.81850	0.467000	0.42956	CGT		0.388	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			30	70	0	0	0	1	0	30	70				
MKX	283078	broad.mit.edu	37	10	28023587	28023587	+	Silent	SNP	G	G	A	rs200413424		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:28023587G>A	ENST00000375790.5	-	5	1068	c.636C>T	c.(634-636)taC>taT	p.Y212Y	MKX_ENST00000419761.1_Silent_p.Y212Y			Q8IYA7	MKX_HUMAN	mohawk homeobox	212					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GGGGTGCCACGTAGTCCTCAC	0.488																																						ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(634-636)taC>taT		mohawk homeobox							168.0	160.0	162.0					10																	28023587		2203	4300	6503	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28023587G>A	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.636C>T	10.37:g.28023587G>A						MKX_ENST00000419761.1_Silent_p.Y212Y	p.Y212Y			Q8IYA7	MKX_HUMAN			5	1068	-			212					B3KWM5	Silent	SNP	ENST00000375790.5	37	c.636C>T	CCDS7156.1																																																																																				0.488	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		88	59	0	0	0	1	0	88	59				
ZNF644	84146	broad.mit.edu	37	1	91382483	91382483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:91382483G>A	ENST00000370440.1	-	6	4073	c.3856C>T	c.(3856-3858)Cga>Tga	p.R1286*	ZNF644_ENST00000361321.5_Nonsense_Mutation_p.R64*|ZNF644_ENST00000467231.1_5'UTR|ZNF644_ENST00000347275.5_Nonsense_Mutation_p.R64*|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.R1286*			Q9H582	ZN644_HUMAN	zinc finger protein 644	1286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACAATATGTCGTTGTAAGTGC	0.423																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3856-3858)Cga>Tga		zinc finger protein 644							107.0	103.0	104.0					1																	91382483		2203	4300	6503	SO:0001587	stop_gained	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91382483G>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3856C>T	1.37:g.91382483G>A	ENSP00000359469:p.Arg1286*					ZNF644_ENST00000347275.5_Nonsense_Mutation_p.R64*|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.R1286*|ZNF644_ENST00000361321.5_Nonsense_Mutation_p.R64*|ZNF644_ENST00000467231.1_5'UTR	p.R1286*			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	6	4073	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	1286					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Nonsense_Mutation	SNP	ENST00000370440.1	37	c.3856C>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414047	0.83449	.	.	ENSG00000122482	ENST00000370440;ENST00000347275;ENST00000337393;ENST00000361321	.	.	.	5.8	3.83	0.44106	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.179	10.7145	0.46005	0.0682:0.0:0.8005:0.1313	.	.	.	.	X	1286;64;1286;64	.	ENSP00000337008:R1286X	R	-	1	2	ZNF644	91155071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.704000	0.61831	1.458000	0.47871	0.655000	0.94253	CGA		0.423	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		27	50	0	0	0	1	0	27	50				
SNHG14	104472715	broad.mit.edu	37	15	25331678	25331678	+	RNA	SNP	C	C	T	rs570342976		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:25331678C>T	ENST00000546682.1	+	0	453				SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-20_ENST00000384507.1_lincRNA|SNORD116-18_ENST00000383961.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTGCGTGGATCGATGATGACT	0.453																																						ENST00000546682.1																			0																				219.0	196.0	203.0					15																	25331678		876	1991	2867			0							g.chr15:25331678C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25331678C>T						SNHG14_ENST00000553108.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	453	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.453	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			47	196	0	0	0	1	0	47	196				
NAV1	89796	broad.mit.edu	37	1	201757608	201757608	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201757608C>T	ENST00000367296.4	+	10	3428	c.3008C>T	c.(3007-3009)gCg>gTg	p.A1003V	NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367297.4_Missense_Mutation_p.A1003V|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367295.1_Missense_Mutation_p.A612V|NAV1_ENST00000295624.6_Missense_Mutation_p.A1003V|NAV1_ENST00000469130.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1003					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGTCCCACTGCGGCCACCACG	0.652																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(3007-3009)gCg>gTg		neuron navigator 1							96.0	95.0	96.0					1																	201757608		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201757608C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3008C>T	1.37:g.201757608C>T	ENSP00000356265:p.Ala1003Val					NAV1_ENST00000295624.6_Missense_Mutation_p.A1003V|NAV1_ENST00000367295.1_Missense_Mutation_p.A612V|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Missense_Mutation_p.A1003V|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367300.3_Intron|IPO9-AS1_ENST00000413035.1_RNA	p.A1003V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			10	3428	+			1003					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.3008C>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160426	0.57368	.	.	ENSG00000134369	ENST00000367296;ENST00000295624;ENST00000367297;ENST00000391966;ENST00000367295	T;T;T;T	0.07216	3.21;3.21;3.24;3.22	5.4	5.4	0.78164	.	0.068684	0.64402	D	0.000011	T	0.16599	0.0399	N	0.24115	0.695	0.80722	D	1	P;P;B;D;P	0.89917	0.891;0.669;0.407;1.0;0.669	B;B;B;D;B	0.76071	0.184;0.059;0.105;0.987;0.059	T	0.02378	-1.1168	10	0.45353	T	0.12	-24.4652	14.4157	0.67148	0.0:0.8524:0.1476:0.0	.	1003;612;1003;511;1003	Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.;.;NAV1_HUMAN;.;.	V	1003;1003;1003;511;612	ENSP00000356265:A1003V;ENSP00000295624:A1003V;ENSP00000356266:A1003V;ENSP00000356264:A612V	ENSP00000295624:A1003V	A	+	2	0	NAV1	200024231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.995000	0.57001	2.526000	0.85167	0.561000	0.74099	GCG		0.652	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		12	202	0	0	0	1	0	12	202				
CHRNG	1146	broad.mit.edu	37	2	233405401	233405401	+	Silent	SNP	G	G	A	rs149931943		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233405401G>A	ENST00000389494.3	+	4	351	c.330G>A	c.(328-330)ccG>ccA	p.P110P	CHRNG_ENST00000389492.3_Silent_p.P110P	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	110					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	TGTGGCGGCCGGATATCGTGC	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14671	0.0		0.0	False		,,,				2504	0.0					ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(328-330)ccG>ccA		cholinergic receptor, nicotinic, gamma (muscle)		G		1,4405	2.1+/-5.4	0,1,2202	38.0	29.0	32.0		330	-8.6	0.0	2	dbSNP_134	32	0,8600		0,0,4300	no	coding-synonymous	CHRNG	NM_005199.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		110/518	233405401	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233405401G>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.330G>A	2.37:g.233405401G>A						CHRNG_ENST00000389492.3_Silent_p.P110P	p.P110P	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	4	351	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	110					B3KWM8|Q14DU4|Q53RG2	Silent	SNP	ENST00000389494.3	37	c.330G>A	CCDS33400.1																																																																																				0.642	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		21	13	0	0	0	1	0	21	13				
OR10H1	26539	broad.mit.edu	37	19	15918656	15918656	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15918656G>A	ENST00000334920.2	-	1	280	c.192C>T	c.(190-192)tgC>tgT	p.C64C		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CGGAGAGGGCGCACAGGAAGA	0.642																																						ENST00000334920.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						c.(190-192)tgC>tgT		olfactory receptor, family 10, subfamily H, member 1							112.0	97.0	102.0					19																	15918656		2203	4299	6502	SO:0001819	synonymous_variant	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918656G>A	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.192C>T	19.37:g.15918656G>A							p.C64C	NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN			1	280	-			64					Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	c.192C>T	CCDS12335.1																																																																																				0.642	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			53	118	0	0	0	1	0	53	118				
BRD3	8019	broad.mit.edu	37	9	136910513	136910513	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:136910513C>T	ENST00000303407.7	-	7	1302	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	BRD3_ENST00000371834.2_Missense_Mutation_p.A373T|BRD3_ENST00000357885.2_Missense_Mutation_p.A373T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	373	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.A373T(2)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AAGCCCTGTGCGTCTGGGTAC	0.592			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	2	Substitution - Missense(2)	p.A373T(2)	large_intestine(1)|endometrium(1)	kidney(1)|skin(1)|stomach(4)	6						c.(1117-1119)Gca>Aca		bromodomain containing 3							176.0	144.0	155.0					9																	136910513		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136910513C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1117G>A	9.37:g.136910513C>T	ENSP00000305918:p.Ala373Thr					BRD3_ENST00000357885.2_Missense_Mutation_p.A373T|BRD3_ENST00000371834.2_Missense_Mutation_p.A373T	p.A373T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	7	1302	-			373			Bromo 2.		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.1117G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256591	0.95336	.	.	ENSG00000169925	ENST00000303407;ENST00000540795;ENST00000371834;ENST00000357885	T;T;T	0.33654	1.4;1.4;1.4	4.69	4.69	0.59074	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.49440	0.1557	L	0.35793	1.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67103	0.942;0.949	T	0.50972	-0.8764	10	0.54805	T	0.06	-18.9639	16.5874	0.84731	0.0:1.0:0.0:0.0	.	373;373	Q15059-2;Q15059	.;BRD3_HUMAN	T	373;52;373;373	ENSP00000305918:A373T;ENSP00000360900:A373T;ENSP00000350557:A373T	ENSP00000305918:A373T	A	-	1	0	BRD3	135900334	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.857000	0.69525	2.137000	0.66172	0.561000	0.74099	GCA		0.592	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		38	230	0	0	0	1	0	38	230				
TYMP	1890	broad.mit.edu	37	22	50967656	50967656	+	Missense_Mutation	SNP	C	C	T	rs370874256		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:50967656C>T	ENST00000252029.3	-	3	488	c.326G>A	c.(325-327)cGc>cAc	p.R109H	TYMP_ENST00000395681.1_Missense_Mutation_p.R109H|TYMP_ENST00000395678.3_Missense_Mutation_p.R109H|TYMP_ENST00000395680.1_Missense_Mutation_p.R109H|SCO2_ENST00000543927.1_5'Flank	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	109					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	AAGCTGCTGGCGCCAGGCCTC	0.642																																						ENST00000252029.3																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.(325-327)cGc>cAc		thymidine phosphorylase	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						41.0	40.0	40.0					22																	50967656		2203	4298	6501	SO:0001583	missense	1890				angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50967656C>T	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.326G>A	22.37:g.50967656C>T	ENSP00000252029:p.Arg109His					TYMP_ENST00000395678.3_Missense_Mutation_p.R109H|TYMP_ENST00000395680.1_Missense_Mutation_p.R109H|TYMP_ENST00000395681.1_Missense_Mutation_p.R109H	p.R109H	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	3	488	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	109					A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	c.326G>A	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	7.750	0.703093	0.15172	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.52	4.84	-5.61	0.02489	Glycosyl transferase, family 3 (2);	1.194250	0.06097	N	0.664724	D	0.92899	0.7741	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	D	0.85190	0.1009	10	0.36615	T	0.2	-10.3313	11.0444	0.47850	0.0:0.6654:0.1369:0.1978	.	109;109;109;109	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	H	109	ENSP00000379037:R109H;ENSP00000379038:R109H;ENSP00000252029:R109H;ENSP00000379036:R109H;ENSP00000395875:R109H	ENSP00000252029:R109H	R	-	2	0	TYMP	49314522	0.000000	0.05858	0.026000	0.17262	0.174000	0.22865	-1.175000	0.03102	-0.725000	0.04901	-1.267000	0.01435	CGC		0.642	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		38	87	0	0	0	1	0	38	87				
DDN	23109	broad.mit.edu	37	12	49392947	49392947	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49392947A>G	ENST00000421952.2	-	1	145	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	42						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TAATGACAGGAAATAGTCTTC	0.607																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(124-126)Tcc>Ccc		dendrin							45.0	49.0	47.0					12																	49392947		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49392947A>G	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.124T>C	12.37:g.49392947A>G	ENSP00000390590:p.Ser42Pro					RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	p.S42P	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			1	145	-			42						Missense_Mutation	SNP	ENST00000421952.2	37	c.124T>C	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	A	16.45	3.127807	0.56721	.	.	ENSG00000181418	ENST00000421952	T	0.58940	0.3	3.66	3.66	0.41972	.	.	.	.	.	T	0.59797	0.2220	N	0.19112	0.55	0.30540	N	0.766551	D	0.76494	0.999	D	0.80764	0.994	T	0.58934	-0.7548	9	0.87932	D	0	.	9.2419	0.37502	1.0:0.0:0.0:0.0	.	42	O94850	DEND_HUMAN	P	42	ENSP00000390590:S42P	ENSP00000390590:S42P	S	-	1	0	DDN	47679214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.694000	0.37752	1.604000	0.50143	0.379000	0.24179	TCC		0.607	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			27	44	0	0	0	1	0	27	44				
ASMTL	8623	broad.mit.edu	37	X	1536976	1536976	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:1536976C>T	ENST00000381317.3	-	11	1444	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H	ASMTL_ENST00000381333.4_Missense_Mutation_p.R455H|ASMTL_ENST00000534940.1_Missense_Mutation_p.R413H|ASMTL_ENST00000416733.2_Missense_Mutation_p.R395H	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	471	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGTACTCACGGGCCAGCTC	0.612													c|||	8	0.00159744	0.0	0.0	5008	,	,		18428	0.0069		0.0	False		,,,				2504	0.001					ENST00000534940.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23						c.(1237-1239)cGt>cAt		acetylserotonin O-methyltransferase-like			HIS/ARG,HIS/ARG,HIS/ARG	0,4216		0,0,2108	109.0	131.0	124.0		1238,1364,1412	1.4	0.1	X		124	1,8419		0,1,4209	yes	missense,missense,missense	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	29,29,29	0,1,6317	TT,TC,CC		0.0119,0.0,0.0079	benign,benign,benign	413/564,455/606,471/622	1536976	1,12635	2108	4210	6318	SO:0001583	missense	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1536976C>T	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1412G>A	X.37:g.1536976C>T	ENSP00000370718:p.Arg471His					ASMTL_ENST00000381317.3_Missense_Mutation_p.R471H|ASMTL_ENST00000416733.2_Missense_Mutation_p.R395H|ASMTL_ENST00000381333.4_Missense_Mutation_p.R455H	p.R413H	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN			11	1463	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	471			ASMT-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	c.1238G>A	CCDS43917.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	c	8.763	0.924139	0.18056	0.0	1.19E-4	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	1.43	1.43	0.22495	O-methyltransferase, family 2 (1);	0.420513	0.23142	N	0.051447	T	0.09291	0.0229	N	0.19112	0.55	0.20196	N	0.999923	B;B;B	0.24426	0.022;0.084;0.103	B;B;B	0.12837	0.008;0.007;0.007	T	0.17258	-1.0375	10	0.41790	T	0.15	.	5.6479	0.17600	0.0:0.1623:0.0:0.8377	.	395;455;471	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	H	395;413;455;471	ENSP00000410578:R395H;ENSP00000446410:R413H;ENSP00000370734:R455H;ENSP00000370718:R471H	ENSP00000370718:R471H	R	-	2	0	ASMTL	1496976	0.541000	0.26417	0.143000	0.22291	0.000000	0.00434	0.901000	0.28445	-0.439000	0.07222	-0.000000	0.15137	CGT		0.612	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		15	45	0	0	0	1	0	15	45				
UACA	55075	broad.mit.edu	37	15	70991907	70991907	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:70991907C>T	ENST00000322954.6	-	2	356	c.171G>A	c.(169-171)aaG>aaA	p.K57K	UACA_ENST00000539319.1_Silent_p.K57K|UACA_ENST00000560441.1_Silent_p.K44K|UACA_ENST00000379983.2_Silent_p.K44K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	57					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GATTGACCCCCTTTTTAGCAA	0.403																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(169-171)aaG>aaA		uveal autoantigen with coiled-coil domains and ankyrin repeats							200.0	171.0	181.0					15																	70991907		2199	4297	6496	SO:0001819	synonymous_variant	55075					cytoskeleton|extracellular region		g.chr15:70991907C>T	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.171G>A	15.37:g.70991907C>T						UACA_ENST00000560441.1_Silent_p.K44K|UACA_ENST00000539319.1_Silent_p.K57K|UACA_ENST00000379983.2_Silent_p.K44K	p.K57K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			2	356	-			57					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	c.171G>A	CCDS10235.1																																																																																				0.403	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			65	90	0	0	0	1	0	65	90				
TUBB4B	10383	broad.mit.edu	37	9	140137526	140137526	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:140137526G>A	ENST00000340384.4	+	4	1004	c.856G>A	c.(856-858)Gtg>Atg	p.V286M		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	286					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	GGCGCTGACCGTGCCCGAGCT	0.657																																						ENST00000340384.4																			0											c.(856-858)Gtg>Atg		tubulin, beta 4B class IVb							34.0	37.0	36.0					9																	140137526		2201	4285	6486	SO:0001583	missense	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137526G>A	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.856G>A	9.37:g.140137526G>A	ENSP00000341289:p.Val286Met						p.V286M	NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN			4	1004	+			286					A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	c.856G>A	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474849	0.26511	.	.	ENSG00000188229	ENST00000340384	D	0.88046	-2.33	5.57	3.75	0.43078	.	0.000000	0.64402	D	0.000003	D	0.94611	0.8263	H	0.94462	3.54	0.52501	D	0.999957	D	0.76494	0.999	D	0.79108	0.992	D	0.94534	0.7739	10	0.87932	D	0	.	11.2447	0.48990	0.1495:0.0:0.8505:0.0	.	286	P68371	TBB4B_HUMAN	M	286	ENSP00000341289:V286M	ENSP00000341289:V286M	V	+	1	0	TUBB2C	139257347	1.000000	0.71417	0.860000	0.33809	0.167000	0.22549	7.829000	0.86735	0.729000	0.32403	0.655000	0.94253	GTG		0.657	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		31	113	0	0	0	1	0	31	113				
FLG	2312	broad.mit.edu	37	1	152282395	152282395	+	Missense_Mutation	SNP	C	C	T	rs139975241	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152282395C>T	ENST00000368799.1	-	3	5002	c.4967G>A	c.(4966-4968)cGt>cAt	p.R1656H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1656	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGCATGACGAGTGCCTGA	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4966-4968)cGt>cAt		filaggrin		T	HIS/ARG	0,4406		0,0,2203	286.0	286.0	286.0		4967	-4.3	0.0	1	dbSNP_134	286	3,8597	3.0+/-9.4	0,3,4297	no	missense	FLG	NM_002016.1	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	1656/4062	152282395	3,13003	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282395C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4967G>A	1.37:g.152282395C>T	ENSP00000357789:p.Arg1656His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1656H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5002	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1656			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4967G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	4.760	0.141260	0.09083	0.0	3.49E-4	ENSG00000143631	ENST00000368799	T	0.00940	5.52	3.48	-4.28	0.03732	.	.	.	.	.	T	0.00241	0.0007	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30119	-0.9989	9	0.41790	T	0.15	.	11.979	0.53109	0.0:0.6958:0.0:0.3042	.	1656	P20930	FILA_HUMAN	H	1656	ENSP00000357789:R1656H	ENSP00000357789:R1656H	R	-	2	0	FLG	150549019	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.650000	0.00403	-1.326000	0.02266	-3.623000	0.00027	CGT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		236	448	0	0	0	1	0	236	448				
FBXL18	80028	broad.mit.edu	37	7	5540761	5540761	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:5540761G>A	ENST00000382368.3	-	3	1262	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	FBXL18_ENST00000453700.3_Missense_Mutation_p.A380V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	380									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGCAGGACGCCACCAGAGT	0.687																																						ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(1138-1140)gCg>gTg		F-box and leucine-rich repeat protein 18							17.0	25.0	22.0					7																	5540761		2164	4263	6427	SO:0001583	missense	80028							g.chr7:5540761G>A	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1139C>T	7.37:g.5540761G>A	ENSP00000371805:p.Ala380Val					FBXL18_ENST00000453700.3_Missense_Mutation_p.A380V	p.A380V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1262	-		Ovarian(82;0.0607)	380					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.1139C>T	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.514|9.514	1.106525|1.106525	0.20632|0.20632	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700|ENST00000458142	T;T|.	0.01005|.	5.45;5.45|.	5.03|5.03	-4.22|-4.22	0.03800|0.03800	.|.	0.825130|.	0.11372|.	N|.	0.570784|.	T|T	0.09905|0.09905	0.0243|0.0243	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.001|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.27191|0.27191	-1.0081|-1.0081	10|5	0.30854|.	T|.	0.27|.	.|.	0.8005|0.8005	0.01074|0.01074	0.3835:0.1244:0.2651:0.227|0.3835:0.1244:0.2651:0.227	.|.	380;380|.	F5H4Z4;Q96ME1-4|.	.;.|.	V|C	380|264	ENSP00000371805:A380V;ENSP00000444797:A380V|.	ENSP00000311990:A380V|.	A|R	-|-	2|1	0|0	FBXL18|FBXL18	5507287|5507287	0.000000|0.000000	0.05858|0.05858	0.117000|0.117000	0.21633|0.21633	0.991000|0.991000	0.79684|0.79684	-0.072000|-0.072000	0.11486|0.11486	-0.613000|-0.613000	0.05694|0.05694	-0.482000|-0.482000	0.04802|0.04802	GCG|CGT		0.687	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		20	105	0	0	0	1	0	20	105				
DMRTB1	63948	broad.mit.edu	37	1	53925205	53925205	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:53925205G>A	ENST00000371445.3	+	1	134	c.79G>A	c.(79-81)Gcg>Acg	p.A27T		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	27					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CAAGGGACACGCGGGCAAATG	0.612																																						ENST00000371445.3																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(79-81)Gcg>Acg		DMRT-like family B with proline-rich C-terminal, 1							34.0	31.0	32.0					1																	53925205		2203	4300	6503	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53925205G>A	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.79G>A	1.37:g.53925205G>A	ENSP00000360500:p.Ala27Thr						p.A27T	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN			1	134	+			27					Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.79G>A	CCDS581.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209463	0.58343	.	.	ENSG00000143006	ENST00000371445	.	.	.	4.83	-1.04	0.10068	DM DNA-binding (6);	0.699451	0.12811	N	0.437184	T	0.10723	0.0262	N	0.10874	0.06	0.31125	N	0.708375	P	0.49635	0.926	B	0.33339	0.162	T	0.28902	-1.0029	9	0.36615	T	0.2	-11.1359	6.381	0.21533	0.1398:0.0:0.3408:0.5194	.	27	Q96MA1	DMRTB_HUMAN	T	27	.	ENSP00000360500:A27T	A	+	1	0	DMRTB1	53697793	0.924000	0.31332	0.707000	0.30419	0.964000	0.63967	1.642000	0.37207	-0.376000	0.07943	0.655000	0.94253	GCG		0.612	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			20	39	0	0	0	1	0	20	39				
DMTN	2039	broad.mit.edu	37	8	21926949	21926949	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:21926949C>T	ENST00000523266.1	+	6	776	c.314C>T	c.(313-315)tCg>tTg	p.S105L	DMTN_ENST00000358242.3_Missense_Mutation_p.S105L|DMTN_ENST00000523782.2_Missense_Mutation_p.S80L|DMTN_ENST00000381470.3_Missense_Mutation_p.S105L|DMTN_ENST00000265800.5_Missense_Mutation_p.S105L|DMTN_ENST00000517600.1_Missense_Mutation_p.S65L|DMTN_ENST00000443491.2_Missense_Mutation_p.S80L|DMTN_ENST00000519907.1_Missense_Mutation_p.S105L|DMTN_ENST00000432128.1_Missense_Mutation_p.S105L|DMTN_ENST00000415253.1_Missense_Mutation_p.S105L	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	105					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										GACAGCCGGTCGCCTGGAATC	0.657																																						ENST00000358242.3																			0											c.(313-315)tCg>tTg		dematin actin binding protein							49.0	51.0	50.0					8																	21926949		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21926949C>T	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.314C>T	8.37:g.21926949C>T	ENSP00000427866:p.Ser105Leu					DMTN_ENST00000517600.1_Missense_Mutation_p.S65L|DMTN_ENST00000523782.2_Missense_Mutation_p.S80L|DMTN_ENST00000523266.1_Missense_Mutation_p.S105L|DMTN_ENST00000443491.2_Missense_Mutation_p.S80L|DMTN_ENST00000381470.3_Missense_Mutation_p.S105L|DMTN_ENST00000415253.1_Missense_Mutation_p.S105L|DMTN_ENST00000519907.1_Missense_Mutation_p.S105L|DMTN_ENST00000432128.1_Missense_Mutation_p.S105L|DMTN_ENST00000265800.5_Missense_Mutation_p.S105L	p.S105L							6	807	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.314C>T	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856384	0.32791	.	.	ENSG00000158856	ENST00000523300;ENST00000519850;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.7	4.7	0.59300	.	0.368332	0.27193	N	0.020499	T	0.39118	0.1066	M	0.74467	2.265	0.39629	D	0.970147	P;B;B;B;B;B	0.40970	0.734;0.205;0.205;0.125;0.012;0.046	B;B;B;B;B;B	0.29353	0.101;0.015;0.015;0.013;0.006;0.005	T	0.53041	-0.8494	10	0.59425	D	0.04	.	13.0621	0.59012	0.0:1.0:0.0:0.0	.	44;65;105;80;80;105	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	L	80;105;105;105;80;65;65;80;80;105;105;44;105;105;105;105;105	ENSP00000429116:S80L;ENSP00000430600:S105L;ENSP00000370879:S105L;ENSP00000416111:S105L;ENSP00000397904:S80L;ENSP00000430618:S65L;ENSP00000428733:S80L;ENSP00000430382:S80L;ENSP00000428415:S105L;ENSP00000265800:S105L;ENSP00000429948:S105L;ENSP00000350977:S105L;ENSP00000401291:S105L;ENSP00000427866:S105L;ENSP00000429377:S105L	ENSP00000265800:S105L	S	+	2	0	EPB49	21982895	0.948000	0.32251	0.996000	0.52242	0.124000	0.20399	3.939000	0.56591	2.472000	0.83506	0.650000	0.86243	TCG		0.657	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		17	38	0	0	0	1	0	17	38				
ANK1	286	broad.mit.edu	37	8	41554024	41554024	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41554024C>T	ENST00000347528.4	-	26	2900	c.2817G>A	c.(2815-2817)ccG>ccA	p.P939P	ANK1_ENST00000265709.8_Silent_p.P980P|ANK1_ENST00000352337.4_Silent_p.P939P|ANK1_ENST00000289734.7_Silent_p.P939P|ANK1_ENST00000396942.1_Silent_p.P939P|ANK1_ENST00000396945.1_Silent_p.P939P|ANK1_ENST00000379758.2_Silent_p.P939P	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	939	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACGTCCGTGGCGGGATCACCA	0.677																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2815-2817)ccG>ccA		ankyrin 1, erythrocytic							44.0	43.0	43.0					8																	41554024		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41554024C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2817G>A	8.37:g.41554024C>T						ANK1_ENST00000289734.7_Silent_p.P939P|ANK1_ENST00000396945.1_Silent_p.P939P|ANK1_ENST00000347528.4_Silent_p.P939P|ANK1_ENST00000352337.4_Silent_p.P939P|ANK1_ENST00000265709.8_Silent_p.P980P|ANK1_ENST00000379758.2_Silent_p.P939P	p.P939P			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		26	2900	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	939			ZU5.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.2817G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	6.216	0.408059	0.11754	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.33904	0.0879	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52253	-0.8600	4	.	.	.	.	2.9397	0.05826	0.1801:0.2443:0.1106:0.4651	.	.	.	.	T	261	.	.	A	-	1	0	ANK1	41673181	0.000000	0.05858	0.007000	0.13788	0.692000	0.40212	-9.007000	0.00014	-4.156000	0.00069	-2.303000	0.00259	GCC		0.677	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		25	45	0	0	0	1	0	25	45				
SEMA3A	10371	broad.mit.edu	37	7	83823817	83823817	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:83823817A>G	ENST00000265362.4	-	1	400	c.86T>C	c.(85-87)gTg>gCg	p.V29A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.V29A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	29					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAGCCTTGGCACATTGTTCTT	0.418																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(85-87)gTg>gCg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							198.0	195.0	196.0					7																	83823817		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83823817A>G	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.86T>C	7.37:g.83823817A>G	ENSP00000265362:p.Val29Ala					SEMA3A_ENST00000436949.1_Missense_Mutation_p.V29A	p.V29A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			1	400	-			29						Missense_Mutation	SNP	ENST00000265362.4	37	c.86T>C	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.812535	0.32053	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047;ENST00000448879	T;T;T	0.22945	1.93;1.93;1.93	5.64	5.64	0.86602	Semaphorin/CD100 antigen (1);	0.182781	0.48767	D	0.000177	T	0.25568	0.0622	L	0.45581	1.43	0.51482	D	0.999924	B	0.02656	0.0	B	0.04013	0.001	T	0.02581	-1.1138	10	0.30078	T	0.28	.	15.9036	0.79403	1.0:0.0:0.0:0.0	.	29	Q14563	SEM3A_HUMAN	A	29	ENSP00000265362:V29A;ENSP00000415260:V29A;ENSP00000391900:V29A	ENSP00000265362:V29A	V	-	2	0	SEMA3A	83661753	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.552000	0.73914	2.157000	0.67596	0.529000	0.55759	GTG		0.418	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		29	210	0	0	0	1	0	29	210				
CD28	940	broad.mit.edu	37	2	204599561	204599561	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:204599561C>T	ENST00000324106.8	+	4	738	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	CD28_ENST00000458610.2_Missense_Mutation_p.R211C|CD28_ENST00000374481.3_Missense_Mutation_p.R113C|CD28_ENST00000374478.4_Missense_Mutation_p.R78C	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	197					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATGACTCCCCGCCGCCCCGG	0.597																																						ENST00000374481.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(337-339)Cgc>Tgc		CD28 molecule							69.0	75.0	73.0					2																	204599561		2203	4300	6503	SO:0001583	missense	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204599561C>T	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.589C>T	2.37:g.204599561C>T	ENSP00000324890:p.Arg197Cys					CD28_ENST00000374478.4_Missense_Mutation_p.R78C|CD28_ENST00000324106.7_Missense_Mutation_p.R197C|CD28_ENST00000458610.2_Missense_Mutation_p.R211C	p.R113C			P10747	CD28_HUMAN			5	559	+			197			Ig-like V-type.		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	c.337C>T	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844155	0.32606	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106;ENST00000374478	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.75	3.84	0.44239	.	0.235357	0.27700	N	0.018215	D	0.89255	0.6663	M	0.81682	2.555	0.26573	N	0.973524	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.98	T	0.81393	-0.0953	10	0.87932	D	0	-17.9671	7.0568	0.25104	0.1728:0.7376:0.0:0.0896	.	78;197	P10747-2;P10747	.;CD28_HUMAN	C	113;211;197;78	ENSP00000363605:R113C;ENSP00000393648:R211C;ENSP00000324890:R197C;ENSP00000363602:R78C	ENSP00000324890:R197C	R	+	1	0	CD28	204307806	0.737000	0.28175	0.059000	0.19551	0.012000	0.07955	1.123000	0.31308	1.055000	0.40461	0.655000	0.94253	CGC		0.597	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		83	173	0	0	0	1	0	83	173				
GRK4	2868	broad.mit.edu	37	4	3037185	3037185	+	Missense_Mutation	SNP	G	G	A	rs547383255		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:3037185G>A	ENST00000398052.4	+	13	1685	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	GRK4_ENST00000345167.6_Missense_Mutation_p.V416M|GRK4_ENST00000504933.1_Missense_Mutation_p.V448M|GRK4_ENST00000398051.4_Missense_Mutation_p.V416M|GRK4_ENST00000509545.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	448	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGCACCCCGTGTTCAAGGA	0.582																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(1342-1344)Gtg>Atg		G protein-coupled receptor kinase 4							95.0	86.0	89.0					4																	3037185		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3037185G>A		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1342G>A	4.37:g.3037185G>A	ENSP00000381129:p.Val448Met					GRK4_ENST00000504933.1_Missense_Mutation_p.V448M|GRK4_ENST00000398051.4_Missense_Mutation_p.V416M|GRK4_ENST00000345167.6_Missense_Mutation_p.V416M|GRK4_ENST00000509545.1_Intron	p.V448M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	13	1685	+			448			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.1342G>A	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282944	0.59867	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.55	-1.31	0.09230	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.229917	0.34067	U	0.004300	T	0.19446	0.0467	N	0.16656	0.425	0.80722	D	1	D;P;D;D	0.58268	0.982;0.867;0.982;0.974	P;B;P;P	0.56865	0.596;0.344;0.615;0.808	T	0.18840	-1.0324	10	0.72032	D	0.01	-12.9327	2.1585	0.03819	0.523:0.1435:0.1886:0.145	.	416;416;448;448	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	M	416;448;416;448	ENSP00000381128:V416M;ENSP00000381129:V448M;ENSP00000264764:V416M;ENSP00000427445:V448M	ENSP00000264764:V416M	V	+	1	0	GRK4	3006983	0.126000	0.22350	0.065000	0.19835	0.942000	0.58702	0.599000	0.24089	-0.007000	0.14345	0.561000	0.74099	GTG		0.582	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		67	121	0	0	0	1	0	67	121				
MMEL1	79258	broad.mit.edu	37	1	2524272	2524272	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:2524272G>A	ENST00000378412.3	-	20	2162	c.2001C>T	c.(1999-2001)aaC>aaT	p.N667N	MMEL1_ENST00000288709.6_Splice_Site_p.N658N|MMEL1_ENST00000502556.1_Splice_Site_p.N510N			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	667						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)		CAGCGCTCACGTTCTGTTCGT	0.637																																						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.e20+1		membrane metallo-endopeptidase-like 1							109.0	83.0	92.0					1																	2524272		2203	4300	6503	SO:0001630	splice_region_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2524272G>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.2001+1C>T	1.37:g.2524272G>A						MMEL1_ENST00000502556.1_Splice_Site_p.N510_splice|MMEL1_ENST00000378412.3_Splice_Site_p.N667_splice	p.N658_splice	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)	20	2214	-	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)	667					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Splice_Site	SNP	ENST00000378412.3	37	c.1974_splice	CCDS30569.2																																																																																				0.637	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	Silent	4	96	0	0	0	1	0	4	96				
LILRB4	11006	broad.mit.edu	37	19	55175317	55175317	+	Missense_Mutation	SNP	G	G	A	rs377613190		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55175317G>A	ENST00000391736.1	+	5	491	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB4_ENST00000430952.2_Missense_Mutation_p.R59H|LILRB4_ENST00000391733.3_Missense_Mutation_p.R59H|LILRB4_ENST00000270452.2_Missense_Mutation_p.R59H|LILRB4_ENST00000391734.3_Missense_Mutation_p.R59H	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	59	Ig-like C2-type 1.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CGGGAGTACCGTCTGGATAAA	0.587																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(175-177)cGt>cAt		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	186.0	173.0	178.0		176,176	-4.9	0.0	19		178	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LILRB4	NM_001081438.1,NM_006847.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	59/448,59/449	55175317	1,13005	2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175317G>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.176G>A	19.37:g.55175317G>A	ENSP00000375616:p.Arg59His					LILRB4_ENST00000391733.3_Missense_Mutation_p.R59H|LILRB4_ENST00000270452.2_Missense_Mutation_p.R59H|LILRB4_ENST00000430952.2_Missense_Mutation_p.R59H|LILRB4_ENST00000391734.3_Missense_Mutation_p.R59H	p.R59H	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	5	491	+			59			Ig-like C2-type 1.		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.176G>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	0.188	-1.055662	0.01965	0.0	1.16E-4	ENSG00000186818	ENST00000420271;ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66	2.43	-4.87	0.03123	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06416	0.0165	N	0.21097	0.63	0.09310	N	1	B;B;B;B;B;B	0.21381	0.033;0.055;0.027;0.0;0.004;0.045	B;B;B;B;B;B	0.24269	0.052;0.02;0.007;0.002;0.003;0.016	T	0.27502	-1.0072	9	0.29301	T	0.29	.	0.3278	0.00314	0.3454:0.1334:0.1862:0.335	.	59;59;59;59;59;100	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6;C9JHA6	.;.;.;.;LIRB4_HUMAN;.	H	100;59;59;59;59;59;59	ENSP00000375616:R59H;ENSP00000270452:R59H;ENSP00000408995:R59H;ENSP00000375614:R59H;ENSP00000375613:R59H;ENSP00000401962:R59H	ENSP00000270452:R59H	R	+	2	0	LILRB4	59867129	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-8.816000	0.00016	-3.203000	0.00216	-0.513000	0.04457	CGT		0.587	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			85	117	0	0	0	1	0	85	117				
ELFN2	114794	broad.mit.edu	37	22	37770333	37770333	+	Silent	SNP	G	G	A	rs144585839		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37770333G>A	ENST00000402918.2	-	3	2027	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	414					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGTAGTACACGGCTCCCAGCA	0.607																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(1240-1242)gcC>gcT		extracellular leucine-rich repeat and fibronectin type III domain containing 2		G		1,4405	2.1+/-5.4	0,1,2202	115.0	106.0	109.0		1242	-6.4	0.3	22	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	ELFN2	NM_052906.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		414/821	37770333	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37770333G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1242C>T	22.37:g.37770333G>A						ELFN2_ENST00000349653.3_Silent_p.A414A|RP1-63G5.5_ENST00000430883.1_RNA	p.A414A	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	2027	-	Melanoma(58;0.0574)		414					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.1242C>T	CCDS33642.1																																																																																				0.607	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		56	115	0	0	0	1	0	56	115				
HTRA4	203100	broad.mit.edu	37	8	38840023	38840023	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:38840023C>T	ENST00000302495.4	+	7	1221	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	374					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCAGGAAAGGCGTTTTCAAAT	0.428																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(1120-1122)gCg>gTg		HtrA serine peptidase 4							154.0	152.0	153.0					8																	38840023		2203	4300	6503	SO:0001583	missense	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38840023C>T	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.1121C>T	8.37:g.38840023C>T	ENSP00000305919:p.Ala374Val						p.A374V	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		7	1221	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	374					Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	c.1121C>T	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	C	4.011	-0.000581	0.07819	.	.	ENSG00000169495	ENST00000302495	T	0.15834	2.39	5.21	2.23	0.28157	.	0.531484	0.17380	N	0.176327	T	0.14743	0.0356	L	0.48642	1.525	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.19679	-1.0298	10	0.36615	T	0.2	-43.9876	9.1926	0.37209	0.0:0.6491:0.0:0.3509	.	374	P83105	HTRA4_HUMAN	V	374	ENSP00000305919:A374V	ENSP00000305919:A374V	A	+	2	0	HTRA4	38959180	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.441000	0.21611	0.261000	0.21753	-1.134000	0.01955	GCG		0.428	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		16	46	0	0	0	1	0	16	46				
PRSS50	29122	broad.mit.edu	37	3	46759103	46759103	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:46759103G>A	ENST00000460241.1	-	7	1801	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L			Q9UI38	TSP50_HUMAN	protease, serine, 50	44					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.P44L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGCCCCCGGGGCTTCCCC	0.706																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			1	Substitution - Missense(1)	p.P44L(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(130-132)cCg>cTg		protease, serine, 50							36.0	40.0	39.0					3																	46759103		2202	4298	6500	SO:0001583	missense	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46759103G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.131C>T	3.37:g.46759103G>A	ENSP00000418875:p.Pro44Leu					PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L	p.P44L			Q9UI38	TSP50_HUMAN			7	1801	-			44						Missense_Mutation	SNP	ENST00000460241.1	37	c.131C>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014302	0.07959	.	.	ENSG00000206549	ENST00000315170;ENST00000460241	D;D	0.89552	-2.53;-2.53	3.29	-1.01	0.10169	.	1.022730	0.07856	N	0.965422	T	0.76884	0.4050	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.58864	-0.7561	9	.	.	.	.	4.5313	0.12006	0.2662:0.4115:0.3224:0.0	.	44	Q9UI38	TSP50_HUMAN	L	44	ENSP00000326598:P44L;ENSP00000418875:P44L	.	P	-	2	0	PRSS50	46734107	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.278000	0.08490	-0.241000	0.09681	-1.240000	0.01540	CCG		0.706	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			36	13	0	0	0	1	0	36	13				
RERE	473	broad.mit.edu	37	1	8674675	8674675	+	Missense_Mutation	SNP	G	G	A	rs142313428		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:8674675G>A	ENST00000337907.3	-	5	1101	c.467C>T	c.(466-468)cCg>cTg	p.P156L	RERE_ENST00000400907.2_Missense_Mutation_p.P156L|RERE_ENST00000400908.2_Missense_Mutation_p.P156L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	156	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGATGCCACCGGCAGAGAGCA	0.488																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(466-468)cCg>cTg		arginine-glutamic acid dipeptide (RE) repeats		G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	76.0	85.0	82.0		467,467	5.3	1.0	1	dbSNP_134	82	0,8600		0,0,4300	no	missense,missense	RERE	NM_001042681.1,NM_012102.3	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	156/1567,156/1567	8674675	1,13005	2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8674675G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.467C>T	1.37:g.8674675G>A	ENSP00000338629:p.Pro156Leu					RERE_ENST00000400907.2_Missense_Mutation_p.P156L|RERE_ENST00000400908.2_Missense_Mutation_p.P156L	p.P156L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	5	1101	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	156			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.467C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119773	0.56613	2.27E-4	0.0	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.42131	0.98;0.98	5.33	5.33	0.75918	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	T	0.60222	0.2252	L	0.57536	1.79	0.48975	D	0.999733	D	0.89917	1.0	D	0.81914	0.995	T	0.60727	-0.7206	9	0.66056	D	0.02	-21.5608	14.3867	0.66949	0.0:0.0:1.0:0.0	.	156	Q9P2R6	RERE_HUMAN	L	156	ENSP00000338629:P156L;ENSP00000383700:P156L	ENSP00000338629:P156L	P	-	2	0	RERE	8597262	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.819000	0.48049	2.768000	0.95171	0.655000	0.94253	CCG		0.488	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			44	168	0	0	0	1	0	44	168				
ADRBK2	157	broad.mit.edu	37	22	26118335	26118335	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26118335C>T	ENST00000324198.6	+	21	2177	c.1985C>T	c.(1984-1986)cCg>cTg	p.P662L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	662					receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CGTCGTGCCCCGAAGTTCCTC	0.542																																						ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(1984-1986)cCg>cTg		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						103.0	96.0	98.0					22																	26118335		2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26118335C>T	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1985C>T	22.37:g.26118335C>T	ENSP00000317578:p.Pro662Leu						p.P662L	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			21	2177	+			662					Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.1985C>T	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.704940	0.48412	.	.	ENSG00000100077	ENST00000324198	T	0.58210	0.35	5.4	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	N	0.08118	0	0.80722	D	1	D	0.61697	0.99	B	0.43445	0.42	T	0.41893	-0.9483	10	0.72032	D	0.01	-16.4738	13.1904	0.59706	0.0:0.9237:0.0:0.0763	.	662	P35626	ARBK2_HUMAN	L	662	ENSP00000317578:P662L	ENSP00000317578:P662L	P	+	2	0	ADRBK2	24448335	1.000000	0.71417	0.559000	0.28332	0.035000	0.12851	6.938000	0.75904	1.292000	0.44672	-0.142000	0.14014	CCG		0.542	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		40	135	0	0	0	1	0	40	135				
KRT83	3889	broad.mit.edu	37	12	52713013	52713013	+	Missense_Mutation	SNP	C	C	T	rs181439241		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:52713013C>T	ENST00000293670.3	-	2	582	c.520G>A	c.(520-522)Gtg>Atg	p.V174M		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	174	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCCTCCACGCACTCGGCC	0.612													c|||	1	0.000199681	0.0	0.0	5008	,	,		15494	0.001		0.0	False		,,,				2504	0.0				GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(520-522)Gtg>Atg		keratin 83							94.0	103.0	100.0					12																	52713013		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52713013C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.520G>A	12.37:g.52713013C>T	ENSP00000293670:p.Val174Met						p.V174M	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	582	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		174			Coil 1B.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.520G>A	CCDS8823.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.79	2.936273	0.52972	.	.	ENSG00000170523	ENST00000293670	T	0.75367	-0.93	4.81	4.81	0.61882	Filament (1);	0.000000	0.38492	U	0.001663	T	0.72423	0.3458	L	0.58583	1.82	0.36156	D	0.847766	B	0.29232	0.238	B	0.38264	0.269	T	0.77981	-0.2383	10	0.72032	D	0.01	.	8.3118	0.32075	0.2607:0.5274:0.2119:0.0	.	174	P78385	KRT83_HUMAN	M	174	ENSP00000293670:V174M	ENSP00000293670:V174M	V	-	1	0	KRT83	50999280	0.953000	0.32496	0.997000	0.53966	0.921000	0.55340	1.933000	0.40153	2.378000	0.81104	0.563000	0.77884	GTG		0.612	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		81	169	0	0	0	1	0	81	169				
RIN3	79890	broad.mit.edu	37	14	93118358	93118358	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:93118358G>A	ENST00000216487.7	+	6	1123	c.964G>A	c.(964-966)Gtc>Atc	p.V322I	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	322	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				tgcccccCACGTCACACCCCA	0.711																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(964-966)Gtc>Atc		Ras and Rab interactor 3							9.0	11.0	10.0					14																	93118358		1991	3929	5920	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118358G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.964G>A	14.37:g.93118358G>A	ENSP00000216487:p.Val322Ile					RIN3_ENST00000418924.2_3'UTR	p.V322I	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	1123	+		all_cancers(154;0.0701)	322			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.964G>A	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.382999	0.42207	.	.	ENSG00000100599	ENST00000216487	T	0.05447	3.44	4.33	-4.26	0.03755	.	4.873430	0.00481	N	0.000134	T	0.04318	0.0119	L	0.29908	0.895	0.09310	N	0.999998	B;B	0.10296	0.003;0.003	B;B	0.01281	0.0;0.0	T	0.36648	-0.9739	10	0.22706	T	0.39	-1.1346	1.2425	0.01966	0.2272:0.2071:0.1197:0.4459	.	247;322	Q6ZRC2;Q8TB24	.;RIN3_HUMAN	I	322	ENSP00000216487:V322I	ENSP00000216487:V322I	V	+	1	0	RIN3	92188111	0.000000	0.05858	0.000000	0.03702	0.543000	0.35085	-0.962000	0.03841	-0.571000	0.06014	-0.671000	0.03813	GTC		0.711	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			12	5	0	0	0	1	0	12	5				
C9orf152	401546	broad.mit.edu	37	9	112963591	112963591	+	Silent	SNP	C	C	T	rs376699609		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112963591C>T	ENST00000400613.4	-	2	966	c.357G>A	c.(355-357)acG>acA	p.T119T	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	119										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTCCAGGTGCGTGTGCCATG	0.587																																						ENST00000400613.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(355-357)acG>acA		chromosome 9 open reading frame 152							95.0	87.0	90.0					9																	112963591		2203	4300	6503	SO:0001819	synonymous_variant	401546							g.chr9:112963591C>T	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.357G>A	9.37:g.112963591C>T						C9orf152_ENST00000473442.1_Intron	p.T119T	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN			2	966	-			119					A8MWT6	Silent	SNP	ENST00000400613.4	37	c.357G>A	CCDS35102.2																																																																																				0.587	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		22	142	0	0	0	1	0	22	142				
DHTKD1	55526	broad.mit.edu	37	10	12142226	12142226	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:12142226C>T	ENST00000263035.4	+	9	1783	c.1721C>T	c.(1720-1722)gCg>gTg	p.A574V		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	574					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGGGCCACCGCGGAAGCTCTT	0.423																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1720-1722)gCg>gTg		dehydrogenase E1 and transketolase domain containing 1							143.0	157.0	153.0					10																	12142226		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12142226C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1721C>T	10.37:g.12142226C>T	ENSP00000263035:p.Ala574Val						p.A574V	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		9	1783	+		Renal(717;0.228)	574					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1721C>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495661	0.85069	.	.	ENSG00000181192	ENST00000263035	D	0.93763	-3.28	5.39	5.39	0.77823	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97720	0.9252	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98595	1.0656	10	0.87932	D	0	-9.1872	19.1825	0.93629	0.0:1.0:0.0:0.0	.	574	Q96HY7	DHTK1_HUMAN	V	574	ENSP00000263035:A574V	ENSP00000263035:A574V	A	+	2	0	DHTKD1	12182232	1.000000	0.71417	0.997000	0.53966	0.465000	0.32709	7.000000	0.76290	2.531000	0.85337	0.484000	0.47621	GCG		0.423	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		47	173	0	0	0	1	0	47	173				
SLC9C2	284525	broad.mit.edu	37	1	173551052	173551052	+	Missense_Mutation	SNP	C	C	T	rs4916373	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:173551052C>T	ENST00000367714.3	-	7	1158	c.736G>A	c.(736-738)Gtt>Att	p.V246I	SLC9C2_ENST00000536496.1_Missense_Mutation_p.V144I|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	246					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TTGCTAAAAACGTCAGCCAAT	0.323																																						ENST00000367714.3																			0											c.(736-738)Gtt>Att		solute carrier family 9, member C2 (putative)							113.0	101.0	105.0					1																	173551052		2203	4299	6502	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173551052C>T	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.736G>A	1.37:g.173551052C>T	ENSP00000356687:p.Val246Ile					SLC9C2_ENST00000536496.1_Missense_Mutation_p.V144I|RP3-436N22.3_ENST00000431459.1_RNA	p.V246I	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			7	1158	-			246					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.736G>A	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.524566	0.00959	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.12361	2.69;2.69	6.11	2.96	0.34315	Cation/H+ exchanger (1);	0.645648	0.14450	N	0.318867	T	0.00936	0.0031	N	0.01352	-0.895	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.48055	-0.9068	10	0.02654	T	1	-5.8249	7.9194	0.29837	0.0:0.141:0.4782:0.3809	rs4916373;rs4916373	246	Q5TAH2	S9A11_HUMAN	I	246;144	ENSP00000356687:V246I;ENSP00000445437:V144I	ENSP00000356687:V246I	V	-	1	0	SLC9A11	171817675	0.998000	0.40836	0.056000	0.19401	0.010000	0.07245	0.587000	0.23909	0.897000	0.36392	-0.147000	0.13772	GTT		0.323	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		26	30	0	0	0	1	0	26	30				
KCTD10	83892	broad.mit.edu	37	12	109889453	109889453	+	Missense_Mutation	SNP	C	C	T	rs369957720		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:109889453C>T	ENST00000228495.6	-	7	1170	c.889G>A	c.(889-891)Gtg>Atg	p.V297M	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Missense_Mutation_p.V116M|KCTD10_ENST00000540411.1_Missense_Mutation_p.V271M|KCTD10_ENST00000540089.1_Missense_Mutation_p.V116M	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	297					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						ATCCTCCGCACGCGCTCGATC	0.716																																						ENST00000228495.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						c.(889-891)Gtg>Atg		potassium channel tetramerization domain containing 10		C	MET/VAL	0,4406		0,0,2203	53.0	48.0	49.0		889	5.0	1.0	12		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCTD10	NM_031954.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	297/314	109889453	1,13005	2203	4300	6503	SO:0001583	missense	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109889453C>T	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.889G>A	12.37:g.109889453C>T	ENSP00000228495:p.Val297Met					KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_Missense_Mutation_p.V116M|KCTD10_ENST00000540411.1_Missense_Mutation_p.V271M|KCTD10_ENST00000424763.2_Missense_Mutation_p.V116M	p.V297M	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN			7	1170	-			297					Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	ENST00000228495.6	37	c.889G>A	CCDS9128.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768114	0.90020	0.0	1.16E-4	ENSG00000110906	ENST00000228495;ENST00000540089;ENST00000545759;ENST00000424763;ENST00000540411;ENST00000542954;ENST00000535546;ENST00000540402	T;T	0.52295	0.71;0.67	4.97	4.97	0.65823	.	0.122763	0.53938	D	0.000047	T	0.70413	0.3221	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	T	0.73717	-0.3895	10	0.72032	D	0.01	-27.3041	17.765	0.88475	0.0:1.0:0.0:0.0	.	271;274;297	F5GWA4;Q9H3F6-2;Q9H3F6	.;.;BACD3_HUMAN	M	297;116;139;116;271;116;116;116	ENSP00000228495:V297M;ENSP00000441672:V271M	ENSP00000228495:V297M	V	-	1	0	KCTD10	108373836	1.000000	0.71417	0.974000	0.42286	0.812000	0.45895	7.724000	0.84798	2.757000	0.94681	0.655000	0.94253	GTG		0.716	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		46	80	0	0	0	1	0	46	80				
TRPC3	7222	broad.mit.edu	37	4	122835949	122835949	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:122835949C>T	ENST00000379645.3	-	4	1400	c.1327G>A	c.(1327-1329)Gca>Aca	p.A443T	TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000264811.5_Missense_Mutation_p.A370T	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	358					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGCAAGGTGCGATCCAGTAG	0.483																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1108-1110)Gca>Aca		transient receptor potential cation channel, subfamily C, member 3							96.0	75.0	83.0					4																	122835949		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122835949C>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1327G>A	4.37:g.122835949C>T	ENSP00000368966:p.Ala443Thr					TRPC3_ENST00000379645.3_Missense_Mutation_p.A443T|TRPC3_ENST00000513531.1_Intron	p.A370T	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			3	1526	-			358					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1108G>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069328	0.55539	.	.	ENSG00000138741	ENST00000264811;ENST00000379645	T;T	0.73047	-0.71;-0.71	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.70850	0.3271	L	0.61218	1.895	0.80722	D	1	B;P	0.43885	0.364;0.82	B;B	0.39379	0.057;0.298	T	0.75545	-0.3280	10	0.62326	D	0.03	-22.9691	19.3937	0.94596	0.0:1.0:0.0:0.0	.	358;443	Q13507;Q5G1L5	TRPC3_HUMAN;.	T	370;443	ENSP00000264811:A370T;ENSP00000368966:A443T	ENSP00000264811:A370T	A	-	1	0	TRPC3	123055399	0.998000	0.40836	0.956000	0.39512	0.678000	0.39670	3.740000	0.55082	2.586000	0.87340	0.655000	0.94253	GCA		0.483	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		29	46	0	0	0	1	0	29	46				
TFEC	22797	broad.mit.edu	37	7	115590971	115590971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:115590971G>A	ENST00000265440.7	-	6	652	c.472C>T	c.(472-474)Cga>Tga	p.R158*	TFEC_ENST00000457268.1_Nonsense_Mutation_p.R91*|TFEC_ENST00000484212.1_Nonsense_Mutation_p.R248*|TFEC_ENST00000320239.7_Nonsense_Mutation_p.R129*|TFEC_ENST00000393485.1_Nonsense_Mutation_p.R129*	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	158	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCCTTGATTCGGTAATTAATA	0.299																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(472-474)Cga>Tga		transcription factor EC							39.0	43.0	41.0					7																	115590971		2203	4297	6500	SO:0001587	stop_gained	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115590971G>A	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.472C>T	7.37:g.115590971G>A	ENSP00000265440:p.Arg158*					TFEC_ENST00000393485.1_Nonsense_Mutation_p.R129*|TFEC_ENST00000320239.7_Nonsense_Mutation_p.R129*|TFEC_ENST00000457268.1_Nonsense_Mutation_p.R91*|TFEC_ENST00000484212.1_Nonsense_Mutation_p.R248*	p.R158*	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		6	652	-			158			Helix-loop-helix motif.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Nonsense_Mutation	SNP	ENST00000265440.7	37	c.472C>T	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687324	0.96784	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239;ENST00000393485;ENST00000484212	.	.	.	5.43	1.16	0.20824	.	0.054326	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5681	13.5891	0.61948	0.0:0.0:0.4641:0.5358	.	.	.	.	X	158;91;129;129;248	.	ENSP00000265440:R158X	R	-	1	2	TFEC	115378207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.181000	0.42547	0.196000	0.20367	0.655000	0.94253	CGA		0.299	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		15	43	0	0	0	1	0	15	43				
LYPD4	147719	broad.mit.edu	37	19	42343292	42343292	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42343292C>T	ENST00000330743.3	-	2	1279		c.e2+1		LYPD4_ENST00000343055.4_Missense_Mutation_p.R23H|LYPD4_ENST00000601246.1_Missense_Mutation_p.R23H	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ACAGGACATACGAGGCAGAGT	0.577																																						ENST00000601246.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(67-69)cGt>cAt		LY6/PLAUR domain containing 4							134.0	132.0	133.0					19																	42343292		2203	4300	6503	SO:0001630	splice_region_variant	147719					anchored to membrane|plasma membrane		g.chr19:42343292C>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.67+1G>A	19.37:g.42343292C>T						LYPD4_ENST00000343055.4_Missense_Mutation_p.R23H|LYPD4_ENST00000330743.3_Splice_Site	p.R23H			Q6UWN0	LYPD4_HUMAN			4	438	-			23					Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	c.68G>A	CCDS12587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.18|15.18	2.756003|2.756003	0.49362|0.49362	.|.	.|.	ENSG00000183103|ENSG00000183103	ENST00000330743|ENST00000343055	.|T	.|0.13538	.|2.58	3.9|3.9	3.9|3.9	0.45041|0.45041	.|.	.|.	.|.	.|.	.|.	.|T	.|0.24736	.|0.0600	.|.	.|.	.|.	0.27408|0.27408	N|N	0.954667|0.954667	.|D	.|0.76494	.|0.999	.|P	.|0.57960	.|0.83	.|T	.|0.02307	.|-1.1179	.|8	.|0.38643	.|T	.|0.18	.|.	11.6746|11.6746	0.51422|0.51422	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|23	.|Q6UWN0-2	.|.	.|H	-1|23	.|ENSP00000339568:R23H	.|ENSP00000339568:R23H	.|R	-|-	.|2	.|0	LYPD4|LYPD4	47035132|47035132	0.991000|0.991000	0.36638|0.36638	0.976000|0.976000	0.42696|0.42696	0.861000|0.861000	0.49209|0.49209	1.908000|1.908000	0.39907|0.39907	2.462000|2.462000	0.83206|0.83206	0.551000|0.551000	0.68910|0.68910	.|CGT		0.577	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506	Intron	7	147	0	0	0	1	0	7	147				
KIAA1549L	25758	broad.mit.edu	37	11	33604946	33604946	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33604946G>A	ENST00000321505.4	+	10	3754	c.3574G>A	c.(3574-3576)Gtg>Atg	p.V1192M	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1198M|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1198M			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1192						integral component of membrane (GO:0016021)											GCCCATTGCCGTGGTCACGGT	0.547																																						ENST00000321505.4																			0											c.(3574-3576)Gtg>Atg		KIAA1549-like							40.0	43.0	42.0					11																	33604946		2140	4252	6392	SO:0001583	missense	25758							g.chr11:33604946G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3574G>A	11.37:g.33604946G>A	ENSP00000315295:p.Val1192Met					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1198M|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1198M	p.V1192M							10	3754	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3574G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044833	0.93685	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.83188	0.5200	M	0.78801	2.425	0.46586	D	0.999119	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84767	0.0765	9	0.87932	D	0	-18.029	19.5469	0.95302	0.0:0.0:1.0:0.0	.	1198;1198	E9PAT2;Q6ZVL6-2	.;.	M	1192;1198;1198;1031	.	ENSP00000265654:V1198M	V	+	1	0	C11orf41	33561522	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.476000	0.97823	2.619000	0.88677	0.561000	0.74099	GTG		0.547	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		9	11	0	0	0	1	0	9	11				
ARC	23237	broad.mit.edu	37	8	143694472	143694472	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:143694472G>A	ENST00000356613.2	-	1	2361	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CACTGGCCACGGACTCGCTGT	0.701																																						ENST00000356613.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(1159-1161)tcC>tcT		activity-regulated cytoskeleton-associated protein							6.0	8.0	8.0					8																	143694472		2155	4243	6398	SO:0001819	synonymous_variant	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694472G>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.1161C>T	8.37:g.143694472G>A							p.S387S	NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN			1	2361	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	387					B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	c.1161C>T	CCDS34950.1																																																																																				0.701	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			11	11	0	0	0	1	0	11	11				
CR1	1378	broad.mit.edu	37	1	207793265	207793265	+	Silent	SNP	G	G	A	rs188203769	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793265G>A	ENST00000367049.4	+	43	7107	c.7107G>A	c.(7105-7107)tcG>tcA	p.S2369S	CR1_ENST00000367051.1_Silent_p.S1919S|CR1_ENST00000367052.1_Silent_p.S1919S|CR1_ENST00000400960.2_Silent_p.S1919S|CR1_ENST00000367053.1_Silent_p.S1919S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1919					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGAATCTCGAAGGAGTTAG	0.363													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21608	0.001		0.0	False		,,,				2504	0.0					ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(7105-7107)tcG>tcA		complement component (3b/4b) receptor 1 (Knops blood group)		G	,	6,3894		0,6,1944	46.0	47.0	47.0		5757,7107	2.7	0.0	1		47	0,8358		0,0,4179	no	coding-synonymous,coding-synonymous	CR1	NM_000573.3,NM_000651.4	,	0,6,6123	AA,AG,GG		0.0,0.1538,0.0489	,	1919/2040,2369/2490	207793265	6,12252	1950	4179	6129	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207793265G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7107G>A	1.37:g.207793265G>A						CR1_ENST00000367053.1_Silent_p.S1919S|CR1_ENST00000367052.1_Silent_p.S1919S|CR1_ENST00000400960.2_Silent_p.S1919S|CR1_ENST00000367051.1_Silent_p.S1919S	p.S2369S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			43	7107	+			1919					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.7107G>A	CCDS44308.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.020	-1.441225	0.01098	0.001538	0.0	ENSG00000203710	ENST00000529814	.	.	.	4.6	2.69	0.31865	.	.	.	.	.	T	0.33265	0.0857	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.19910	-1.0291	4	.	.	.	.	7.4819	0.27411	0.2009:0.0:0.7991:0.0	.	.	.	.	Q	542	.	.	R	+	2	0	CR1	205859888	0.002000	0.14202	0.002000	0.10522	0.075000	0.17131	0.398000	0.20899	0.649000	0.30751	0.650000	0.86243	CGA		0.363	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		6	14	0	0	0	1	0	6	14				
DNAH9	1770	broad.mit.edu	37	17	11660881	11660881	+	Silent	SNP	G	G	A	rs200875814		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11660881G>A	ENST00000262442.4	+	35	6935	c.6867G>A	c.(6865-6867)ccG>ccA	p.P2289P	DNAH9_ENST00000454412.2_Silent_p.P2289P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2289	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCAACCCGGCAGACTTGG	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20114	0.001		0.0	False		,,,				2504	0.0					ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6865-6867)ccG>ccA		dynein, axonemal, heavy chain 9		G		1,4405	2.1+/-5.4	0,1,2202	88.0	84.0	85.0		6867	-10.5	0.4	17		85	0,8600		0,0,4300	no	coding-synonymous	DNAH9	NM_001372.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2289/4487	11660881	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11660881G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6867G>A	17.37:g.11660881G>A						DNAH9_ENST00000454412.2_Silent_p.P2289P	p.P2289P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	35	6935	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2289			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.6867G>A	CCDS11160.1																																																																																				0.428	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		16	62	0	0	0	1	0	16	62				
KIF1A	547	broad.mit.edu	37	2	241680733	241680733	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241680733G>A	ENST00000320389.7	-	33	3557	c.3399C>T	c.(3397-3399)taC>taT	p.Y1133Y	KIF1A_ENST00000498729.2_Silent_p.Y1234Y	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1133					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCAGCAGGTCGTACTTGCAGT	0.662																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(3700-3702)taC>taT		kinesin family member 1A							31.0	42.0	38.0					2																	241680733		2110	4228	6338	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241680733G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3399C>T	2.37:g.241680733G>A						KIF1A_ENST00000320389.7_Silent_p.Y1133Y	p.Y1234Y	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	35	3948	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1133					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.3702C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	8.262	0.811363	0.16537	.	.	ENSG00000130294	ENST00000431776	.	.	.	4.44	-0.612	0.11597	.	.	.	.	.	T	0.55924	0.1951	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50189	-0.8857	4	.	.	.	.	9.9169	0.41439	0.6337:0.0:0.3663:0.0	.	.	.	.	M	57	.	.	T	-	2	0	KIF1A	241329406	0.013000	0.17824	0.998000	0.56505	0.813000	0.45954	-1.019000	0.03622	-0.129000	0.11620	-0.384000	0.06662	ACG		0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		11	14	0	0	0	1	0	11	14				
AKAP9	10142	broad.mit.edu	37	7	91737807	91737807	+	Splice_Site	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:91737807G>T	ENST00000359028.2	+	49	11783		c.e49-1		AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAATCCTTTAGGTACCCAGGC	0.423			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.e49-1		A kinase (PRKA) anchor protein 9							103.0	98.0	100.0					7																	91737807		2203	4300	6503	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91737807G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11559-1G>T	7.37:g.91737807G>T						AKAP9_ENST00000358100.2_Splice_Site|AKAP9_ENST00000356239.3_Splice_Site				Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		49	11783	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)							A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37			.	.	.	.	.	.	.	.	.	.	G	17.84	3.487439	0.63962	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1301	0.93402	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP9	91575743	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.054000	0.64275	2.767000	0.95098	0.655000	0.94253	.		0.423	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Intron	15	98	1	0	1.67942e-08	1	1.70918e-08	15	98				
MYO1F	4542	broad.mit.edu	37	19	8601249	8601249	+	Missense_Mutation	SNP	G	G	A	rs373423000		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8601249G>A	ENST00000338257.8	-	19	2197	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	644	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACGCCACCGCGGCCACGTC	0.647																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1930-1932)Cgg>Tgg		myosin IF		G	TRP/ARG	1,4107		0,1,2053	43.0	47.0	46.0		1930	2.2	0.0	19		46	0,8404		0,0,4202	no	missense	MYO1F	NM_012335.3	101	0,1,6255	AA,AG,GG		0.0,0.0243,0.0080	possibly-damaging	644/1099	8601249	1,12511	2054	4202	6256	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8601249G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1930C>T	19.37:g.8601249G>A	ENSP00000344871:p.Arg644Trp						p.R644W	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			19	2197	-			644			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1930C>T	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056179	0.55325	2.43E-4	0.0	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.87650	-2.28	4.51	2.25	0.28309	Myosin head, motor domain (2);	1.220140	0.05727	N	0.598871	D	0.90082	0.6902	M	0.88105	2.93	0.09310	N	1	D	0.54772	0.968	P	0.48488	0.579	T	0.74287	-0.3714	10	0.52906	T	0.07	.	3.5075	0.07696	0.2004:0.0:0.4523:0.3473	.	644	O00160	MYO1F_HUMAN	W	689;644	ENSP00000344871:R644W	ENSP00000304899:R689W	R	-	1	2	MYO1F	8507249	0.000000	0.05858	0.004000	0.12327	0.852000	0.48524	1.059000	0.30517	0.311000	0.23014	0.454000	0.30748	CGG		0.647	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			59	78	0	0	0	1	0	59	78				
CACNA1F	778	broad.mit.edu	37	X	49088267	49088267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:49088267G>A	ENST00000376265.2	-	2	209	c.148C>T	c.(148-150)Cga>Tga	p.R50*	CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.R50*|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	50					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGTTTCTTCGCTTAGGGGTC	0.652																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85	GRCh37	CM010173	CACNA1F	M		c.(148-150)Cga>Tga		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						88.0	63.0	71.0					X																	49088267		2202	4299	6501	SO:0001587	stop_gained	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49088267G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.148C>T	X.37:g.49088267G>A	ENSP00000365441:p.Arg50*					CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.R50*	p.R50*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			2	209	-			50					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Nonsense_Mutation	SNP	ENST00000376265.2	37	c.148C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883871	0.91814	.	.	ENSG00000102001	ENST00000323022;ENST00000376265	.	.	.	4.42	3.54	0.40534	.	0.549745	0.16739	N	0.201519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.194	0.48703	0.0:0.0:0.6723:0.3277	.	.	.	.	X	50	.	.	R	-	1	2	CACNA1F	48975211	0.282000	0.24268	0.946000	0.38457	0.728000	0.41692	0.634000	0.24614	0.951000	0.37770	0.436000	0.28706	CGA		0.652	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		6	17	0	0	0	1	0	6	17				
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	T	rs587780075		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7577138C>T	ENST00000269305.4	-	8	989	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R267Q|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R267Q|TP53_ENST00000359597.4_Missense_Mutation_p.R267Q|TP53_ENST00000455263.2_Missense_Mutation_p.R267Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAAGCTGTTCCGTCCCAGTAG	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		59	Substitution - Missense(33)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(14)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(5)|ovary(5)|breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|stomach(2)|oesophagus(2)|liver(2)|eye(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM921040	TP53	M		c.(799-801)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577138C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.800G>A	17.37:g.7577138C>T	ENSP00000269305:p.Arg267Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R267Q|TP53_ENST00000445888.2_Missense_Mutation_p.R267Q|TP53_ENST00000455263.2_Missense_Mutation_p.R267Q|TP53_ENST00000269305.4_Missense_Mutation_p.R267Q	p.R267Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	932	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.800G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525610	0.85600	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.13	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99789	0.9911	M	0.82630	2.6	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;0.997;1.0;0.999	D;P;D;D	0.77557	0.973;0.908;0.99;0.984	D	0.97972	1.0344	10	0.87932	D	0	-8.7531	8.8334	0.35098	0.0:0.7658:0.1508:0.0834	.	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Q	267;267;267;267;267;256;135	ENSP00000352610:R267Q;ENSP00000269305:R267Q;ENSP00000398846:R267Q;ENSP00000391127:R267Q;ENSP00000391478:R267Q;ENSP00000425104:R135Q	ENSP00000269305:R267Q	R	-	2	0	TP53	7517863	1.000000	0.71417	0.489000	0.27452	0.858000	0.48976	7.587000	0.82613	0.725000	0.32318	0.462000	0.41574	CGG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		40	14	0	0	0	1	0	40	14				
ARAP3	64411	broad.mit.edu	37	5	141035270	141035270	+	Missense_Mutation	SNP	C	C	T	rs138515824	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:141035270C>T	ENST00000239440.4	-	31	4093	c.4028G>A	c.(4027-4029)cGt>cAt	p.R1343H	ARAP3_ENST00000513878.1_Missense_Mutation_p.R1005H|ARAP3_ENST00000508305.1_Missense_Mutation_p.R1174H|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1343					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AAACTTCTGACGGGCAAGGTC	0.597																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(4027-4029)cGt>cAt		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	93.0	84.0	87.0		4028	3.9	1.0	5	dbSNP_134	87	0,8600		0,0,4300	no	missense	ARAP3	NM_022481.5	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1343/1545	141035270	2,13004	2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141035270C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4028G>A	5.37:g.141035270C>T	ENSP00000239440:p.Arg1343His					ARAP3_ENST00000508305.1_Missense_Mutation_p.R1174H|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.R1005H	p.R1343H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			31	4093	-			1343					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.4028G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607261	0.66558	4.54E-4	0.0	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.15017	2.46;3.17;3.01	5.66	3.87	0.44632	.	0.055468	0.64402	D	0.000002	T	0.07954	0.0199	N	0.24115	0.695	0.36709	D	0.880554	B;P;B	0.38745	0.014;0.645;0.078	B;B;B	0.25884	0.003;0.064;0.016	T	0.27468	-1.0073	10	0.42905	T	0.14	.	5.9245	0.19101	0.0:0.6463:0.0:0.3537	.	1005;1174;1343	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	H	1174;1343;1005	ENSP00000421826:R1174H;ENSP00000239440:R1343H;ENSP00000421468:R1005H	ENSP00000239440:R1343H	R	-	2	0	ARAP3	141015454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.544000	0.53640	1.397000	0.46682	0.655000	0.94253	CGT		0.597	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		41	70	0	0	0	1	0	41	70				
PPIL2	23759	broad.mit.edu	37	22	22048118	22048118	+	Missense_Mutation	SNP	C	C	T	rs201283292		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:22048118C>T	ENST00000335025.8	+	16	1244	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	PPIL2_ENST00000456792.2_Missense_Mutation_p.R364C|PPIL2_ENST00000406385.1_Missense_Mutation_p.R385C|PPIL2_ENST00000446951.1_3'UTR|PPIL2_ENST00000412327.1_Missense_Mutation_p.R385C|PPIL2_ENST00000398831.3_Missense_Mutation_p.R385C|PPIL2_ENST00000492445.2_Missense_Mutation_p.R385C					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CATCACGTTTCGCTCCTGTGC	0.602																																						ENST00000406385.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(1153-1155)Cgc>Tgc		peptidylprolyl isomerase (cyclophilin)-like 2							280.0	194.0	223.0					22																	22048118		2203	4300	6503	SO:0001583	missense	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22048118C>T		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.1153C>T	22.37:g.22048118C>T	ENSP00000334553:p.Arg385Cys					PPIL2_ENST00000412327.1_Missense_Mutation_p.R385C|PPIL2_ENST00000398831.3_Missense_Mutation_p.R385C|PPIL2_ENST00000456792.2_Missense_Mutation_p.R364C|PPIL2_ENST00000492445.2_Missense_Mutation_p.R385C|PPIL2_ENST00000335025.7_Missense_Mutation_p.R385C	p.R385C			Q13356	PPIL2_HUMAN			16	1213	+	Colorectal(54;0.105)		385			PPIase cyclophilin-type.			Missense_Mutation	SNP	ENST00000335025.8	37	c.1153C>T	CCDS13793.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122551	0.77436	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000406385;ENST00000456792;ENST00000446951	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	4.65	4.65	0.58169	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.73319	2.225	0.80722	D	1	D;D;D	0.89917	1.0;0.989;1.0	D;P;D	0.67725	0.953;0.623;0.953	T	0.51188	-0.8737	10	0.87932	D	0	.	14.9799	0.71303	0.0:1.0:0.0:0.0	.	364;385;385	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	C	385;385;385;385;385;364;165	ENSP00000390427:R385C;ENSP00000334553:R385C;ENSP00000381812:R385C;ENSP00000445312:R385C;ENSP00000384299:R385C;ENSP00000396228:R364C;ENSP00000405214:R165C	ENSP00000334553:R385C	R	+	1	0	PPIL2	20378118	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	6.473000	0.73572	2.602000	0.87976	0.555000	0.69702	CGC		0.602	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			116	152	0	0	0	1	0	116	152				
UGT1A1	54658	broad.mit.edu	37	2	234526381	234526381	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234526381A>G	ENST00000373450.4	+	1	91	c.28A>G	c.(28-30)Att>Gtt	p.I10V		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	0					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	GACCAGCCCCATTCCCCTATG	0.572																																						ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(28-30)Att>Gtt									80.0	67.0	71.0					2																	234526381		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526381A>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.28A>G	2.37:g.234526381A>G	ENSP00000362549:p.Ile10Val						p.I10V	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	91	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.28A>G	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930862	0.34096	.	.	ENSG00000242366	ENST00000373450	T	0.57907	0.37	3.96	1.04	0.20106	.	.	.	.	.	T	0.21801	0.0525	N	0.02315	-0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16394	-1.0404	9	0.28530	T	0.3	.	3.2411	0.06780	0.1386:0.5698:0.1343:0.1572	.	10;10	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	V	10	ENSP00000362549:I10V	ENSP00000362549:I10V	I	+	1	0	UGT1A8	234191120	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.783000	0.04638	-0.136000	0.11475	-2.379000	0.00233	ATT		0.572	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			57	64	0	0	0	1	0	57	64				
SLC1A6	6511	broad.mit.edu	37	19	15072860	15072860	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15072860C>T	ENST00000221742.3	-	5	896	c.889G>A	c.(889-891)Gac>Aac	p.D297N	SLC1A6_ENST00000430939.2_Missense_Mutation_p.D233N|SLC1A6_ENST00000600144.1_Missense_Mutation_p.D297N|SLC1A6_ENST00000598504.1_Missense_Mutation_p.D297N|SLC1A6_ENST00000544886.2_Missense_Mutation_p.D297N	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	297					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TTGAGGCTGTCGAAGAAGTCC	0.572																																						ENST00000598504.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(889-891)Gac>Aac		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						90.0	85.0	86.0					19																	15072860		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15072860C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.889G>A	19.37:g.15072860C>T	ENSP00000221742:p.Asp297Asn					SLC1A6_ENST00000544886.2_Missense_Mutation_p.D297N|SLC1A6_ENST00000430939.2_Missense_Mutation_p.D233N|SLC1A6_ENST00000221742.3_Missense_Mutation_p.D297N|SLC1A6_ENST00000600144.1_Missense_Mutation_p.D297N	p.D297N	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			8	2248	-			297					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.889G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	9.716	1.158300	0.21454	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.60171	0.21;0.21;0.21	4.33	3.23	0.37069	.	0.101398	0.64402	D	0.000002	T	0.39860	0.1094	L	0.28274	0.84	0.49483	D	0.999796	B;P;B	0.43392	0.088;0.805;0.01	B;P;B	0.44477	0.023;0.451;0.005	T	0.40961	-0.9535	10	0.02654	T	1	-38.4812	9.0412	0.36319	0.0:0.8798:0.0:0.1202	.	233;297;297	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	N	233;297;297	ENSP00000409386:D233N;ENSP00000221742:D297N;ENSP00000446175:D297N	ENSP00000221742:D297N	D	-	1	0	SLC1A6	14933860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.870000	0.48451	2.255000	0.74692	0.460000	0.39030	GAC		0.572	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		75	101	0	0	0	1	0	75	101				
RNF125	54941	broad.mit.edu	37	18	29648291	29648291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:29648291C>T	ENST00000217740.3	+	6	1135	c.643C>T	c.(643-645)Cga>Tga	p.R215*	RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	215					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGCTCTTATCCGAAGAGTCTT	0.338																																						ENST00000217740.3																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(643-645)Cga>Tga		ring finger protein 125, E3 ubiquitin protein ligase							57.0	60.0	59.0					18																	29648291		2201	4300	6501	SO:0001587	stop_gained	54941				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding	g.chr18:29648291C>T	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.643C>T	18.37:g.29648291C>T	ENSP00000217740:p.Arg215*					RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	p.R215*	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN			6	1135	+			215					Q9NX39	Nonsense_Mutation	SNP	ENST00000217740.3	37	c.643C>T	CCDS11902.1	.	.	.	.	.	.	.	.	.	.	C	39	7.858494	0.98528	.	.	ENSG00000101695	ENST00000217740	.	.	.	5.89	4.04	0.47022	.	0.148432	0.31156	N	0.008147	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-21.0789	11.4409	0.50096	0.3286:0.6714:0.0:0.0	.	.	.	.	X	215	.	ENSP00000217740:R215X	R	+	1	2	RNF125	27902289	0.996000	0.38824	0.998000	0.56505	0.997000	0.91878	0.588000	0.23924	0.761000	0.33130	0.655000	0.94253	CGA		0.338	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255354.1	NM_017831		30	26	0	0	0	1	0	30	26				
CENPK	64105	broad.mit.edu	37	5	64814369	64814369	+	Missense_Mutation	SNP	C	C	T	rs147863579		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:64814369C>T	ENST00000396679.1	-	11	957	c.743G>A	c.(742-744)cGt>cAt	p.R248H	CENPK_ENST00000510693.1_Missense_Mutation_p.R185H|CENPK_ENST00000508421.1_Missense_Mutation_p.R218H|CENPK_ENST00000242872.3_Missense_Mutation_p.R248H|CENPK_ENST00000514814.1_Missense_Mutation_p.R248H|CENPK_ENST00000506282.2_5'Flank	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	248					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATTCCATTACGCAGCAGCAG	0.353																																						ENST00000396679.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(742-744)cGt>cAt		centromere protein K		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	111.0	109.0	109.0		743	4.0	1.0	5	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	CENPK	NM_022145.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	248/270	64814369	2,13004	2203	4300	6503	SO:0001583	missense	64105				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr5:64814369C>T	BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.743G>A	5.37:g.64814369C>T	ENSP00000379911:p.Arg248His					CENPK_ENST00000508421.1_Missense_Mutation_p.R218H|CENPK_ENST00000514814.1_Missense_Mutation_p.R248H|CENPK_ENST00000242872.3_Missense_Mutation_p.R248H|CENPK_ENST00000510693.1_Missense_Mutation_p.R185H	p.R248H	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN		Lung(70;0.00466)	11	957	-		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	248					Q9H4L0	Missense_Mutation	SNP	ENST00000396679.1	37	c.743G>A	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582695	0.86748	2.27E-4	1.16E-4	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000508421;ENST00000510693	.	.	.	5.77	3.98	0.46160	.	0.054076	0.64402	D	0.000001	T	0.51432	0.1674	M	0.65498	2.005	0.50171	D	0.999855	P	0.37276	0.589	B	0.30105	0.111	T	0.54636	-0.8264	9	0.72032	D	0.01	-1.8585	11.2414	0.48972	0.1276:0.8065:0.0:0.0659	.	248	Q9BS16	CENPK_HUMAN	H	248;248;248;218;185	.	ENSP00000242872:R248H	R	-	2	0	CENPK	64850125	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	6.220000	0.72237	0.773000	0.33404	0.557000	0.71058	CGT		0.353	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2	NM_022145		35	77	0	0	0	1	0	35	77				
B4GALNT3	283358	broad.mit.edu	37	12	674455	674455	+	IGR	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:674455G>A	ENST00000266383.5	+	0	5068				NINJ2_ENST00000397265.3_Silent_p.F118F|NINJ2_ENST00000542920.1_Silent_p.F89F|NINJ2_ENST00000537416.1_5'Flank|NINJ2_ENST00000305108.4_Silent_p.F171F	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TATGTGCCCCGAAGGCTGTAA	0.537																																						ENST00000305108.4																			0				large_intestine(3)|lung(1)|ovary(2)	6						c.(511-513)ttC>ttT		ninjurin 2							95.0	83.0	87.0					12																	674455		2203	4300	6503	SO:0001628	intergenic_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:674455G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.674455G>A						NINJ2_ENST00000397265.3_Silent_p.F118F|NINJ2_ENST00000542920.1_Silent_p.F89F	p.F171F	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		3	793	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		125					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.513C>T	CCDS8504.1																																																																																				0.537	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		9	91	0	0	0	1	0	9	91				
PGLYRP3	114771	broad.mit.edu	37	1	153276410	153276410	+	Missense_Mutation	SNP	G	G	A	rs371637331		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:153276410G>A	ENST00000290722.1	-	4	504	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	151					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATACCTGGGCGACAGGTGACC	0.552																																						ENST00000290722.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28						c.(451-453)tCg>tTg		peptidoglycan recognition protein 3		G	LEU/SER	0,4406		0,0,2203	92.0	91.0	91.0		452	4.3	1.0	1		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	PGLYRP3	NM_052891.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	151/342	153276410	1,13005	2203	4300	6503	SO:0001583	missense	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153276410G>A	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.452C>T	1.37:g.153276410G>A	ENSP00000290722:p.Ser151Leu						p.S151L	NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	504	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		151					A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	c.452C>T	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516409	0.64634	0.0	1.16E-4	ENSG00000159527	ENST00000290722	T	0.15139	2.45	4.3	4.3	0.51218	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.43260	D	0.000593	T	0.33323	0.0859	M	0.87547	2.89	0.31148	N	0.705863	D	0.76494	0.999	D	0.68765	0.96	T	0.16719	-1.0393	10	0.54805	T	0.06	-28.5111	12.442	0.55629	0.0:0.0:1.0:0.0	.	151	Q96LB9	PGRP3_HUMAN	L	151	ENSP00000290722:S151L	ENSP00000290722:S151L	S	-	2	0	PGLYRP3	151543034	0.997000	0.39634	1.000000	0.80357	0.816000	0.46133	3.935000	0.56560	2.399000	0.81585	0.650000	0.86243	TCG		0.552	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		55	58	0	0	0	1	0	55	58				
SH3BP1	23616	broad.mit.edu	37	22	38051660	38051660	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:38051660G>A	ENST00000357436.4	+	18	2388	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	SH3BP1_ENST00000599616.1_Intron|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	692					signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCTCAGCCCCGCCCCAGGAGC	0.677																																						ENST00000357436.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(2074-2076)cGc>cAc		SH3-domain binding protein 1							5.0	6.0	6.0					22																	38051660		2063	3969	6032	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38051660G>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.2075G>A	22.37:g.38051660G>A	ENSP00000350018:p.Arg692His					Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Intron	p.R692H	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN			18	2388	+	Melanoma(58;0.0574)		692					Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.2075G>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373268	0.24857	.	.	ENSG00000100092	ENST00000357436	T	0.18502	2.21	3.97	2.95	0.34219	.	0.247760	0.20496	U	0.091194	T	0.09291	0.0229	L	0.27053	0.805	0.80722	D	1	B	0.17852	0.024	B	0.09377	0.004	T	0.19418	-1.0306	9	.	.	.	.	3.8232	0.08843	0.2304:0.2046:0.565:0.0	.	692	Q9Y3L3	3BP1_HUMAN	H	692	ENSP00000350018:R692H	.	R	+	2	0	SH3BP1	36381606	1.000000	0.71417	0.973000	0.42090	0.363000	0.29612	2.420000	0.44679	0.878000	0.35920	-0.391000	0.06502	CGC		0.677	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		8	7	0	0	0	1	0	8	7				
NLRP7	199713	broad.mit.edu	37	19	55451430	55451430	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55451430C>T	ENST00000590030.1	-	3	797	c.757G>A	c.(757-759)Gat>Aat	p.D253N	NLRP7_ENST00000448121.2_Missense_Mutation_p.D253N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D281N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D253N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D253N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D253N|NLRP7_ENST00000588756.1_Missense_Mutation_p.D253N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	253	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAAGGCCATCGACCACGAAC	0.567																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(757-759)Gat>Aat		NLR family, pyrin domain containing 7							102.0	103.0	102.0					19																	55451430		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451430C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.757G>A	19.37:g.55451430C>T	ENSP00000465520:p.Asp253Asn					NLRP7_ENST00000590030.1_Missense_Mutation_p.D253N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D281N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D253N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D253N|NLRP7_ENST00000448121.2_Missense_Mutation_p.D253N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D253N	p.D253N			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1243	-			253			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.757G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116042	0.56505	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58	1.76	0.692	0.18050	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.98302	0.9437	M	0.87900	2.915	0.38168	D	0.93924	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97487	1.0051	9	0.87932	D	0	.	6.392	0.21591	0.0:0.8285:0.0:0.1715	.	281;253;253;253	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	N	253;253;253;281	ENSP00000329568:D253N;ENSP00000409137:D253N;ENSP00000339491:D253N;ENSP00000414273:D281N	ENSP00000329568:D253N	D	-	1	0	NLRP7	60143242	0.999000	0.42202	0.005000	0.12908	0.010000	0.07245	5.474000	0.66781	0.306000	0.22856	0.462000	0.41574	GAT		0.567	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		94	98	0	0	0	1	0	94	98				
PHC2	1912	broad.mit.edu	37	1	33837953	33837953	+	Silent	SNP	G	G	A	rs145356735		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:33837953G>A	ENST00000257118.5	-	2	323	c.270C>T	c.(268-270)acC>acT	p.T90T	PHC2_ENST00000419414.2_Silent_p.T90T|PHC2_ENST00000431992.1_Silent_p.T90T|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	90	Gln-rich.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAGCGCCGCGGTCTGCAGCA	0.667																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(268-270)acC>acT		polyhomeotic homolog 2 (Drosophila)		T		1,4405	2.1+/-5.4	0,1,2202	33.0	33.0	33.0		270	-10.4	0.0	1	dbSNP_134	33	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PHC2	NM_198040.2		0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154		90/859	33837953	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33837953G>A	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.270C>T	1.37:g.33837953G>A						PHC2_ENST00000419414.2_Silent_p.T90T|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.T90T	p.T90T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			2	323	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	90			Gln-rich.		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	c.270C>T	CCDS378.1																																																																																				0.667	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		41	58	0	0	0	1	0	41	58				
IFRD2	7866	broad.mit.edu	37	3	50326252	50326252	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50326252G>A	ENST00000429673.2	-	9	1193	c.1194C>T	c.(1192-1194)cgC>cgT	p.R398R	IFRD2_ENST00000417626.2_Silent_p.R334R|IFRD2_ENST00000436390.1_Silent_p.R334R|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_Silent_p.R500R			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	398						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGCACGGCGCGGAAAGTAG	0.602																																						ENST00000436390.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14						c.(1000-1002)cgC>cgT		interferon-related developmental regulator 2																																				SO:0001819	synonymous_variant	7866						binding	g.chr3:50326252G>A	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.1194C>T	3.37:g.50326252G>A						IFRD2_ENST00000429673.2_Silent_p.R398R|IFRD2_ENST00000336089.4_Silent_p.R500R|IFRD2_ENST00000417626.2_Silent_p.R334R	p.R334R			Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	12	1499	-			398					Q9BVB4|Q9UJ88	Silent	SNP	ENST00000429673.2	37	c.1002C>T	CCDS46831.1																																																																																				0.602	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		26	9	0	0	0	1	0	26	9				
GGT6	124975	broad.mit.edu	37	17	4461802	4461802	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4461802G>A	ENST00000574154.1	-	4	1286	c.990C>T	c.(988-990)tcC>tcT	p.S330S	GGT6_ENST00000301395.3_Silent_p.S298S|GGT6_ENST00000381550.3_Silent_p.S336S|GGT6_ENST00000573591.1_Silent_p.S182S|MYBBP1A_ENST00000254718.4_5'Flank			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	330					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGGCGCCCCGGAGCGCAGGG	0.692																																						ENST00000301395.3																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(892-894)tcC>tcT		gamma-glutamyltransferase 6							15.0	17.0	16.0					17																	4461802		2195	4293	6488	SO:0001819	synonymous_variant	124975				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr17:4461802G>A	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"""Gamma-glutamyltransferases"""	26891	protein-coding gene	gene with protein product		612341	"""gamma-glutamyltransferase 6 homolog (rat)"""			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.990C>T	17.37:g.4461802G>A						GGT6_ENST00000381550.3_Silent_p.S336S|GGT6_ENST00000574154.1_Silent_p.S330S|GGT6_ENST00000573591.1_Silent_p.S182S	p.S298S	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN			3	953	-			330					B4DUH4|Q8NCM0	Silent	SNP	ENST00000574154.1	37	c.894C>T	CCDS45582.1																																																																																				0.692	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439122.1	NM_153338		3	13	0	0	0	1	0	3	13				
VPS51	738	broad.mit.edu	37	11	64875676	64875676	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64875676G>A	ENST00000279281.3	+	5	825	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	245					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGGAGGGCGGCTCAGGCGC	0.716																																						ENST00000279281.3																			0											c.(733-735)Ggc>Agc		vacuolar protein sorting 51 homolog (S. cerevisiae)							6.0	7.0	6.0					11																	64875676		2079	4061	6140	SO:0001583	missense	738							g.chr11:64875676G>A	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.733G>A	11.37:g.64875676G>A	ENSP00000279281:p.Gly245Ser					VPS51_ENST00000527646.1_3'UTR	p.G245S	NM_013265.2	NP_037397.2					5	825	+								Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.733G>A	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	G	3.858	-0.030529	0.07543	.	.	ENSG00000149823	ENST00000530773;ENST00000279281;ENST00000529180;ENST00000534557	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.47	2.53	0.30540	Cullin repeat-like-containing domain (1);	0.158991	0.56097	N	0.000029	T	0.52948	0.1766	N	0.12961	0.28	0.47819	D	0.999524	B	0.23650	0.089	B	0.15052	0.012	T	0.34725	-0.9817	10	0.07990	T	0.79	-14.1416	6.7127	0.23286	0.0967:0.0:0.7206:0.1828	.	245	Q9UID3	FFR_HUMAN	S	196;245;270;159	ENSP00000434138:G196S;ENSP00000279281:G245S;ENSP00000435245:G270S;ENSP00000435691:G159S	ENSP00000279281:G245S	G	+	1	0	C11orf2	64632252	0.991000	0.36638	0.998000	0.56505	0.043000	0.13939	2.520000	0.45554	0.469000	0.27268	-0.275000	0.10095	GGC		0.716	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		5	17	0	0	0	1	0	5	17				
KCNN1	3780	broad.mit.edu	37	19	18092920	18092920	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:18092920G>A	ENST00000222249.9	+	5	1220	c.901G>A	c.(901-903)Gtg>Atg	p.V301M		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	301					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	AGCCTGGACCGTGCGCGTCTG	0.652																																						ENST00000601725.1																			0																				26.0	19.0	21.0					19																	18092920		2202	4299	6501	SO:0001583	missense	0							g.chr19:18092920G>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.901G>A	19.37:g.18092920G>A	ENSP00000476519:p.Val301Met													0	536	+								Q5KR10|Q6DJU4	RNA	SNP	ENST00000222249.9	37			.	.	.	.	.	.	.	.	.	.	G	18.96	3.734013	0.69189	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	5.11	5.11	0.69529	Ion transport 2 (1);	0.000000	0.64402	D	0.000001	T	0.45558	0.1348	L	0.27975	0.815	0.52501	D	0.999953	P	0.42518	0.782	B	0.43386	0.418	T	0.41610	-0.9499	9	0.38643	T	0.18	-24.1848	16.013	0.80417	0.0:0.0:1.0:0.0	.	301	Q92952	KCNN1_HUMAN	M	318;301	.	ENSP00000222249:V318M	V	+	1	0	KCNN1	17953920	1.000000	0.71417	0.968000	0.41197	0.653000	0.38743	9.555000	0.98123	2.378000	0.81104	0.561000	0.74099	GTG		0.652	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		12	7	0	0	0	1	0	12	7				
ANK1	286	broad.mit.edu	37	8	41577305	41577305	+	Silent	SNP	G	G	A	rs61758867	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41577305G>A	ENST00000347528.4	-	10	1064	c.981C>T	c.(979-981)taC>taT	p.Y327Y	ANK1_ENST00000265709.8_Silent_p.Y360Y|ANK1_ENST00000352337.4_Silent_p.Y327Y|ANK1_ENST00000289734.7_Silent_p.Y327Y|ANK1_ENST00000396942.1_Silent_p.Y327Y|ANK1_ENST00000396945.1_Silent_p.Y327Y|ANK1_ENST00000379758.2_Silent_p.Y327Y	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	327	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCTGCGTCGTATTGCAACA	0.567													G|||	4	0.000798722	0.0	0.0014	5008	,	,		19573	0.0		0.003	False		,,,				2504	0.0					ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(979-981)taC>taT		ankyrin 1, erythrocytic		G	,,,,	0,4406		0,0,2203	255.0	214.0	228.0		981,1080,981,981,981	5.0	1.0	8	dbSNP_129	228	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,,,,	327/1881,360/1898,327/1857,327/1882,327/1720	41577305	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41577305G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.981C>T	8.37:g.41577305G>A						ANK1_ENST00000289734.7_Silent_p.Y327Y|ANK1_ENST00000396945.1_Silent_p.Y327Y|ANK1_ENST00000347528.4_Silent_p.Y327Y|ANK1_ENST00000352337.4_Silent_p.Y327Y|ANK1_ENST00000265709.8_Silent_p.Y360Y|ANK1_ENST00000379758.2_Silent_p.Y327Y	p.Y327Y			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		10	1064	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	327			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.981C>T	CCDS6119.1																																																																																				0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		51	103	0	0	0	1	0	51	103				
TAF4	6874	broad.mit.edu	37	20	60574065	60574065	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60574065G>A	ENST00000252996.4	-	12	2886	c.2887C>T	c.(2887-2889)Cgg>Tgg	p.R963W		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	963					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGGATCTCCCGCTCCTGCTCA	0.557																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2887-2889)Cgg>Tgg		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							208.0	204.0	205.0					20																	60574065		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60574065G>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2887C>T	20.37:g.60574065G>A	ENSP00000252996:p.Arg963Trp						p.R963W	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		12	2886	-	Breast(26;1e-08)		963					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2887C>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092425	0.36952	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.33865	1.4;1.39	5.18	2.62	0.31277	Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.61060	0.2317	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64279	-0.6445	10	0.87932	D	0	-16.4851	12.8042	0.57603	0.0:0.0:0.4052:0.5948	.	963	O00268	TAF4_HUMAN	W	963;827	ENSP00000252996:R963W;ENSP00000399091:R827W	ENSP00000252996:R963W	R	-	1	2	TAF4	60007460	1.000000	0.71417	0.502000	0.27614	0.003000	0.03518	2.405000	0.44548	0.188000	0.20168	-0.310000	0.09108	CGG		0.557	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		178	279	0	0	0	1	0	178	279				
PXDN	7837	broad.mit.edu	37	2	1684083	1684083	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:1684083C>T	ENST00000252804.4	-	7	662	c.612G>A	c.(610-612)gcG>gcA	p.A204A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	204	LRRCT.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCAGCAAATCCGCCAACCACA	0.587																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(610-612)gcG>gcA		peroxidasin homolog (Drosophila)							91.0	95.0	94.0					2																	1684083		2182	4282	6464	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1684083C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.612G>A	2.37:g.1684083C>T							p.A204A	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	7	662	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	204			LRRCT.		A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.612G>A	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.174|0.174	-1.068862|-1.068862	0.01918|0.01918	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000447941|ENST00000433670	.|.	.|.	.|.	4.64|4.64	-9.28|-9.28	0.00656|0.00656	.|.	.|.	.|.	.|.	.|.	T|T	0.41811|0.41811	0.1175|0.1175	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45991|0.45991	-0.9223|-0.9223	4|4	.|.	.|.	.|.	-38.1052|-38.1052	4.3391|4.3391	0.11101|0.11101	0.0821:0.2352:0.1645:0.5181|0.0821:0.2352:0.1645:0.5181	.|.	.|.	.|.	.|.	R|Q	128|200	.|.	.|.	G|R	-|-	1|2	0|0	PXDN|PXDN	1663090|1663090	0.000000|0.000000	0.05858|0.05858	0.054000|0.054000	0.19295|0.19295	0.007000|0.007000	0.05969|0.05969	-2.632000|-2.632000	0.00870|0.00870	-2.100000|-2.100000	0.00848|0.00848	-1.749000|-1.749000	0.00680|0.00680	GGA|CGG		0.587	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		22	19	0	0	0	1	0	22	19				
TRPM6	140803	broad.mit.edu	37	9	77376996	77376996	+	Missense_Mutation	SNP	G	G	A	rs141526694	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77376996G>A	ENST00000360774.1	-	26	4828	c.4591C>T	c.(4591-4593)Cgc>Tgc	p.R1531C	TRPM6_ENST00000451710.3_Missense_Mutation_p.R1531C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531C|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1531					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGTATCTGCGGAGAGGATTG	0.423																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(4591-4593)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 6		G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	93.0	94.0		4576,4576,4591	2.4	0.0	9	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	180,180,180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign	1526/2018,1526/2018,1531/2023	77376996	3,13003	2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77376996G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4591C>T	9.37:g.77376996G>A	ENSP00000354006:p.Arg1531Cys					TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526C|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526C|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1531C	p.R1531C			Q9BX84	TRPM6_HUMAN			26	4828	-			1531					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4591C>T	CCDS6647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.163|2.163	-0.391665|-0.391665	0.04932|0.04932	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000119121|ENSG00000119121	ENST00000448641|ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449	.|T;T;T;T;T	.|0.53857	.|0.69;0.69;0.69;0.69;0.6	5.33|5.33	2.44|2.44	0.29823|0.29823	.|.	.|1.118960	.|0.06509	.|N	.|0.737619	.|T	.|0.34250	.|0.0891	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.13594	.|0.004;0.008;0.008	.|B;B;B	.|0.06405	.|0.001;0.002;0.002	.|T	.|0.25916	.|-1.0118	.|10	.|0.49607	.|T	.|0.09	.|.	4.3104|4.3104	0.10967|0.10967	0.4141:0.0:0.4368:0.1491|0.4141:0.0:0.4368:0.1491	.|.	.|1531;1526;1526	.|Q9BX84;Q9BX84-3;Q9BX84-2	.|TRPM6_HUMAN;.;.	.|C	-1|1531;1531;1526;1526;1531;1104	.|ENSP00000354006:R1531C;ENSP00000407341:R1531C;ENSP00000396672:R1526C;ENSP00000354962:R1526C;ENSP00000366060:R1531C	.|ENSP00000309693:R1104C	.|R	-|-	.|1	.|0	TRPM6|TRPM6	76566816|76566816	0.241000|0.241000	0.23857|0.23857	0.003000|0.003000	0.11579|0.11579	0.005000|0.005000	0.04900|0.04900	0.752000|0.752000	0.26362|0.26362	0.219000|0.219000	0.20840|0.20840	-0.137000|-0.137000	0.14449|0.14449	.|CGC		0.423	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		41	70	0	0	0	1	0	41	70				
TRUB2	26995	broad.mit.edu	37	9	131072049	131072049	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131072049C>T	ENST00000372890.4	-	8	1109	c.776G>A	c.(775-777)cGc>cAc	p.R259H	TRUB2_ENST00000546104.1_Missense_Mutation_p.R203H|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	259					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GAAGCCGTCGCGCGTGCGCCG	0.582																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(775-777)cGc>cAc		TruB pseudouridine (psi) synthase family member 2							101.0	87.0	92.0					9																	131072049		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131072049C>T	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.776G>A	9.37:g.131072049C>T	ENSP00000361982:p.Arg259His					TRUB2_ENST00000546104.1_Missense_Mutation_p.R203H|TRUB2_ENST00000460320.1_5'UTR	p.R259H	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN			8	1109	-			259					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.776G>A	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807663	0.70797	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.15834	2.39;2.39	5.68	5.68	0.88126	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	M	0.91354	3.2	0.80722	D	1	D	0.64830	0.994	P	0.49047	0.599	T	0.54497	-0.8285	10	0.54805	T	0.06	-20.7905	19.7837	0.96428	0.0:1.0:0.0:0.0	.	259	O95900	TRUB2_HUMAN	H	259;203	ENSP00000361982:R259H;ENSP00000438084:R203H	ENSP00000361982:R259H	R	-	2	0	TRUB2	130111870	0.988000	0.35896	0.053000	0.19242	0.044000	0.14063	6.782000	0.75073	2.672000	0.90937	0.561000	0.74099	CGC		0.582	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		27	54	0	0	0	1	0	27	54				
GRIN2D	2906	broad.mit.edu	37	19	48908573	48908573	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:48908573G>A	ENST00000263269.3	+	3	1136	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	350					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGACTGTCGCGCCCAGAACCG	0.652																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1048-1050)Gcc>Acc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						17.0	19.0	18.0					19																	48908573		2200	4295	6495	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908573G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1048G>A	19.37:g.48908573G>A	ENSP00000263269:p.Ala350Thr						p.A350T	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	3	1136	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	350						Missense_Mutation	SNP	ENST00000263269.3	37	c.1048G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156114	0.38021	.	.	ENSG00000105464	ENST00000263269	T	0.05580	3.42	4.3	3.24	0.37175	.	0.370991	0.23098	N	0.051952	T	0.02848	0.0085	N	0.03948	-0.315	0.34029	D	0.65357	B	0.06786	0.001	B	0.01281	0.0	T	0.34428	-0.9829	10	0.12430	T	0.62	.	11.7287	0.51724	0.091:0.0:0.909:0.0	.	350	O15399	NMDE4_HUMAN	T	350	ENSP00000263269:A350T	ENSP00000263269:A350T	A	+	1	0	GRIN2D	53600385	0.796000	0.28864	0.877000	0.34402	0.982000	0.71751	1.885000	0.39678	0.902000	0.36520	0.561000	0.74099	GCC		0.652	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			17	7	0	0	0	1	0	17	7				
DNMT3A	1788	broad.mit.edu	37	2	25464537	25464537	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:25464537C>T	ENST00000264709.3	-	17	2313	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R659H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R470H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R436H|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	659	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R659H(1)|p.R470H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAATGTAGCGGTCCACCTG	0.627			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		2	Substitution - Missense(2)	p.R659H(1)|p.R470H(1)	endometrium(2)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1975-1977)cGc>cAc		DNA (cytosine-5-)-methyltransferase 3 alpha							153.0	90.0	112.0					2																	25464537		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25464537C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1976G>A	2.37:g.25464537C>T	ENSP00000264709:p.Arg659His					DNMT3A_ENST00000402667.1_Missense_Mutation_p.R436H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R659H|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R470H	p.R659H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			17	2313	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		659					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1976G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649263	0.87958	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.45	5.45	0.79879	.	0.051450	0.85682	D	0.000000	T	0.77691	0.4168	N	0.14661	0.345	0.80722	D	1	B;D	0.57571	0.364;0.98	B;P	0.48227	0.037;0.571	T	0.81607	-0.0856	10	0.59425	D	0.04	-9.1764	17.8435	0.88722	0.0:1.0:0.0:0.0	.	659;470	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	470;659;659;436	ENSP00000370122:R470H;ENSP00000324375:R659H;ENSP00000264709:R659H;ENSP00000384237:R436H	ENSP00000264709:R659H	R	-	2	0	DNMT3A	25318041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.747000	0.47475	2.573000	0.86826	0.561000	0.74099	CGC		0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		31	28	0	0	0	1	0	31	28				
FBXW12	285231	broad.mit.edu	37	3	48422276	48422276	+	Missense_Mutation	SNP	G	G	A	rs144607752		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:48422276G>A	ENST00000296438.5	+	8	1045	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	FBXW12_ENST00000436231.1_Missense_Mutation_p.A130T|FBXW12_ENST00000445170.1_Missense_Mutation_p.A268T|FBXW12_ENST00000415155.1_Missense_Mutation_p.A217T|RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000468158.1_3'UTR	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	287										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGTGCCAGCGCCTGCTGGAC	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19716	0.0		0.0	False		,,,				2504	0.0					ENST00000296438.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(859-861)Gcc>Acc		F-box and WD repeat domain containing 12		G	THR/ALA,THR/ALA,THR/ALA	5,4401	9.9+/-24.2	0,5,2198	89.0	89.0	89.0		649,802,859	2.4	0.0	3	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	FBXW12	NM_001159927.1,NM_001159929.1,NM_207102.2	58,58,58	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	probably-damaging,probably-damaging,probably-damaging	217/395,268/446,287/465	48422276	6,13000	2203	4300	6503	SO:0001583	missense	285231							g.chr3:48422276G>A	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.859G>A	3.37:g.48422276G>A	ENSP00000296438:p.Ala287Thr					FBXW12_ENST00000445170.1_Missense_Mutation_p.A268T|FBXW12_ENST00000415155.1_Missense_Mutation_p.A217T|FBXW12_ENST00000436231.1_Missense_Mutation_p.A130T|FBXW12_ENST00000468158.1_3'UTR	p.A287T	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1045	+			287					E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	c.859G>A	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979209	0.53827	0.001135	1.16E-4	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.64260	1.34;-0.09;0.95;3.38	4.23	2.38	0.29361	Quinoprotein amine dehydrogenase, beta chain-like (1);	0.186292	0.46145	D	0.000316	T	0.63827	0.2544	M	0.64997	1.995	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	P;P;P;P	0.53224	0.721;0.721;0.529;0.529	T	0.56715	-0.7933	10	0.72032	D	0.01	-5.7963	5.64	0.17559	0.1064:0.0:0.6992:0.1943	.	186;268;217;287	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	T	186;287;130;268;217	ENSP00000296438:A287T;ENSP00000413866:A130T;ENSP00000406139:A268T;ENSP00000414683:A217T	ENSP00000296438:A287T	A	+	1	0	FBXW12	48397280	0.639000	0.27234	0.009000	0.14445	0.012000	0.07955	1.332000	0.33805	0.481000	0.27557	0.650000	0.86243	GCC		0.443	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		116	35	0	0	0	1	0	116	35				
ZNF687	57592	broad.mit.edu	37	1	151261051	151261051	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151261051C>T	ENST00000368879.2	+	3	2261	c.2163C>T	c.(2161-2163)agC>agT	p.S721S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	721					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGCTTCAGCGCCCACCAGC	0.572																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(2161-2163)agC>agT		zinc finger protein 687							100.0	86.0	91.0					1																	151261051		2203	4300	6503	SO:0001819	synonymous_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151261051C>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.2163C>T	1.37:g.151261051C>T							p.S721S	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	2261	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		721					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Silent	SNP	ENST00000368879.2	37	c.2163C>T		.	.	.	.	.	.	.	.	.	.	C	9.458	1.092408	0.20471	.	.	ENSG00000143373	ENST00000426871	.	.	.	5.25	-3.15	0.05233	.	.	.	.	.	T	0.35682	0.0940	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41875	-0.9484	4	.	.	.	.	8.3588	0.32346	0.0:0.4954:0.1255:0.3791	.	.	.	.	V	324	.	.	A	+	2	0	ZNF687	149527675	0.000000	0.05858	0.964000	0.40570	0.991000	0.79684	-2.123000	0.01319	-0.789000	0.04498	-0.258000	0.10820	GCG		0.572	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		52	116	0	0	0	1	0	52	116				
HECW2	57520	broad.mit.edu	37	2	197183524	197183524	+	Missense_Mutation	SNP	G	G	A	rs139251909	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:197183524G>A	ENST00000260983.3	-	9	2272	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L	HECW2_ENST00000409111.1_Missense_Mutation_p.S341L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	697					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGATTCCTGCGACCCTTCGGC	0.612													G|||	4	0.000798722	0.0023	0.0	5008	,	,		20920	0.0		0.0	False		,,,				2504	0.001					ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2089-2091)tCg>tTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		G	LEU/SER	7,4399	12.9+/-30.5	0,7,2196	35.0	37.0	36.0		2090	3.9	0.0	2	dbSNP_134	36	0,8600		0,0,4300	yes	missense	HECW2	NM_020760.1	145	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign	697/1573	197183524	7,12999	2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183524G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2090C>T	2.37:g.197183524G>A	ENSP00000260983:p.Ser697Leu					HECW2_ENST00000409111.1_Missense_Mutation_p.S341L	p.S697L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	2272	-			697					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2090C>T	CCDS33354.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.861	0.726029	0.15439	0.001589	0.0	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.32753	1.45;1.44	4.82	3.9	0.45041	.	3.712340	0.01136	N	0.006091	T	0.21801	0.0525	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.15052	0.012	T	0.14839	-1.0458	10	0.22706	T	0.39	.	15.2642	0.73649	0.0:0.1399:0.8601:0.0	.	697	Q9P2P5	HECW2_HUMAN	L	341;697	ENSP00000386775:S341L;ENSP00000260983:S697L	ENSP00000260983:S697L	S	-	2	0	HECW2	196891769	0.861000	0.29849	0.005000	0.12908	0.014000	0.08584	3.430000	0.52807	2.509000	0.84616	0.561000	0.74099	TCG		0.612	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		6	110	0	0	0	1	0	6	110				
SON	6651	broad.mit.edu	37	21	34923567	34923567	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:34923567C>T	ENST00000356577.4	+	3	2505	c.2030C>T	c.(2029-2031)tCg>tTg	p.S677L	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S677L|SON_ENST00000300278.4_Missense_Mutation_p.S677L|SON_ENST00000290239.6_Missense_Mutation_p.S677L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	677					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAGGTGCCCTCGACGACAGCG	0.557																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2029-2031)tCg>tTg		SON DNA binding protein							78.0	77.0	78.0					21																	34923567		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923567C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2030C>T	21.37:g.34923567C>T	ENSP00000348984:p.Ser677Leu					SON_ENST00000300278.4_Missense_Mutation_p.S677L|SON_ENST00000381679.4_Missense_Mutation_p.S677L|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S677L	p.S677L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	2505	+			677					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.2030C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455345	0.63401	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.29655	2.41;1.56;2.39;1.56	5.83	5.83	0.93111	.	0.000000	0.49305	D	0.000158	T	0.48804	0.1520	L	0.54323	1.7	0.33750	D	0.620485	D;D;D	0.76494	0.999;0.998;0.993	P;P;P	0.61940	0.848;0.896;0.892	T	0.60500	-0.7251	10	0.72032	D	0.01	.	15.6239	0.76833	0.0:1.0:0.0:0.0	.	677;677;677	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	L	677	ENSP00000348984:S677L;ENSP00000290239:S677L;ENSP00000300278:S677L;ENSP00000371095:S677L	ENSP00000290239:S677L	S	+	2	0	SON	33845437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.322000	0.43814	2.764000	0.94973	0.557000	0.71058	TCG		0.557	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		27	97	0	0	0	1	0	27	97				
ZNF835	90485	broad.mit.edu	37	19	57176021	57176021	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:57176021C>T	ENST00000537055.2	-	2	777	c.546G>A	c.(544-546)gcG>gcA	p.A182A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCCAGTGGGACGCCAGGTACG	0.716																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(544-546)gcG>gcA		zinc finger protein 835							18.0	19.0	18.0					19																	57176021		2199	4297	6496	SO:0001819	synonymous_variant	90485							g.chr19:57176021C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.546G>A	19.37:g.57176021C>T							p.A182A	NM_001005850.2	NP_001005850.2					2	777	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.546G>A	CCDS56105.1																																																																																				0.716	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		8	21	0	0	0	1	0	8	21				
ICMT	23463	broad.mit.edu	37	1	6285295	6285295	+	Missense_Mutation	SNP	C	C	T	rs201101726		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6285295C>T	ENST00000343813.5	-	5	728	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	ICMT_ENST00000495791.1_5'Flank	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	234					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCATAGCTGACGCCGCAGATG	0.517																																						ENST00000343813.5																			0				NS(1)|endometrium(2)	3						c.(700-702)Gtc>Atc		isoprenylcysteine carboxyl methyltransferase							73.0	73.0	73.0					1																	6285295		2203	4300	6503	SO:0001583	missense	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6285295C>T	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"""protein-S-isoprenylcysteine O-methyltransferase"""	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.700G>A	1.37:g.6285295C>T	ENSP00000343552:p.Val234Ile						p.V234I	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	5	728	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	234					Q6FHT0	Missense_Mutation	SNP	ENST00000343813.5	37	c.700G>A	CCDS61.1	.	.	.	.	.	.	.	.	.	.	C	3.105	-0.183879	0.06340	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	5.83	3.0	0.34707	.	0.325920	0.33057	N	0.005322	T	0.26557	0.0649	N	0.12746	0.255	0.46317	D	0.99898	B	0.25272	0.122	B	0.20955	0.032	T	0.04178	-1.0971	9	0.12103	T	0.63	.	5.7603	0.18196	0.1349:0.6558:0.0:0.2093	.	234	O60725	ICMT_HUMAN	I	234;138	.	ENSP00000343552:V234I	V	-	1	0	ICMT	6207882	0.243000	0.23878	0.003000	0.11579	0.093000	0.18481	0.788000	0.26872	0.408000	0.25621	-0.793000	0.03317	GTC		0.517	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		44	84	0	0	0	1	0	44	84				
NTN3	4917	broad.mit.edu	37	16	2522004	2522004	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522004C>T	ENST00000293973.1	+	1	505	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	101	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CTGCCTCGGGCGCCCCTCAAC	0.706																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(301-303)gCg>gTg		netrin 3							14.0	17.0	16.0					16																	2522004		2160	4239	6399	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522004C>T	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.302C>T	16.37:g.2522004C>T	ENSP00000293973:p.Ala101Val						p.A101V	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			1	505	+			101			Laminin N-terminal.			Missense_Mutation	SNP	ENST00000293973.1	37	c.302C>T	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	C	0.809	-0.752670	0.03041	.	.	ENSG00000162068	ENST00000293973	T	0.75477	-0.94	3.82	-2.02	0.07388	Laminin, N-terminal (3);	0.577792	0.17035	N	0.189545	T	0.48502	0.1503	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.26710	-1.0095	10	0.23891	T	0.37	.	8.5068	0.33193	0.0:0.5271:0.0:0.4729	.	101	O00634	NET3_HUMAN	V	101	ENSP00000293973:A101V	ENSP00000293973:A101V	A	+	2	0	NTN3	2462005	0.000000	0.05858	0.005000	0.12908	0.058000	0.15608	-0.162000	0.10012	-0.649000	0.05430	-0.379000	0.06801	GCG		0.706	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		15	53	0	0	0	1	0	15	53				
OR51B4	79339	broad.mit.edu	37	11	5322671	5322671	+	Missense_Mutation	SNP	C	C	T	rs115916434	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:5322671C>T	ENST00000380224.1	-	1	555	c.506G>A	c.(505-507)cGt>cAt	p.R169H	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	169					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGAGGGCACGGGAACCACA	0.423													C|||	2	0.000399361	0.0	0.0	5008	,	,		23251	0.002		0.0	False		,,,				2504	0.0					ENST00000380224.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(505-507)cGt>cAt		olfactory receptor, family 51, subfamily B, member 4		C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	118.0	106.0	110.0		506	3.7	1.0	11	dbSNP_132	110	0,8594		0,0,4297	yes	missense	OR51B4	NM_033179.2	29	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	benign	169/311	5322671	2,12994	2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322671C>T	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.506G>A	11.37:g.5322671C>T	ENSP00000369573:p.Arg169His					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	p.R169H	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	555	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	169					A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.506G>A	CCDS7757.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	0.004	-2.345327	0.00222	4.54E-4	0.0	ENSG00000183251	ENST00000380224	T	0.37235	1.21	4.84	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.108239	0.41294	N	0.000905	T	0.07773	0.0195	N	0.00405	-1.535	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35773	-0.9775	10	0.05620	T	0.96	.	5.819	0.18516	0.0:0.093:0.1682:0.7388	.	169	Q9Y5P0	O51B4_HUMAN	H	169	ENSP00000369573:R169H	ENSP00000369573:R169H	R	-	2	0	OR51B4	5279247	0.000000	0.05858	0.964000	0.40570	0.003000	0.03518	0.158000	0.16422	0.896000	0.36366	-0.302000	0.09304	CGT		0.423	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		52	70	0	0	0	1	0	52	70				
KIF26B	55083	broad.mit.edu	37	1	245848743	245848743	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:245848743G>A	ENST00000407071.2	+	12	2898	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	KIF26B_ENST00000366518.4_Missense_Mutation_p.E439K	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	820					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGCTCCTGCGAAGAAGGCCG	0.652																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1315-1317)Gaa>Aaa		kinesin family member 26B							46.0	53.0	51.0					1																	245848743		2181	4263	6444	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245848743G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2458G>A	1.37:g.245848743G>A	ENSP00000385545:p.Glu820Lys					KIF26B_ENST00000407071.2_Missense_Mutation_p.E820K	p.E439K			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	1419	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		820					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.1315G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858515	0.71834	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.79352	-1.26;-1.21	5.84	5.84	0.93424	.	.	.	.	.	D	0.88746	0.6520	M	0.83953	2.67	0.80722	D	1	D;P	0.76494	0.999;0.883	D;B	0.63381	0.914;0.293	D	0.89056	0.3459	9	0.62326	D	0.03	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	439;820	B7WPD9;Q2KJY2	.;KI26B_HUMAN	K	820;439;436	ENSP00000385545:E820K;ENSP00000355475:E439K	ENSP00000355475:E439K	E	+	1	0	KIF26B	243915366	1.000000	0.71417	0.932000	0.37286	0.384000	0.30261	9.869000	0.99810	2.768000	0.95171	0.561000	0.74099	GAA		0.652	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		18	36	0	0	0	1	0	18	36				
MYOF	26509	broad.mit.edu	37	10	95095762	95095762	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:95095762G>A	ENST00000359263.4	-	41	4478	c.4479C>T	c.(4477-4479)ggC>ggT	p.G1493G	MYOF_ENST00000371502.4_Silent_p.G1512G|MYOF_ENST00000358334.5_Silent_p.G1480G|MYOF_ENST00000371501.4_Silent_p.G1493G	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1493					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGTCTGTCAGGCCCTCAAATT	0.383																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4477-4479)ggC>ggT		myoferlin							173.0	157.0	162.0					10																	95095762		1881	4093	5974	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95095762G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4479C>T	10.37:g.95095762G>A						MYOF_ENST00000359263.4_Silent_p.G1493G|MYOF_ENST00000358334.5_Silent_p.G1480G|MYOF_ENST00000371502.4_Silent_p.G1512G	p.G1493G			Q9NZM1	MYOF_HUMAN			41	4601	-			1493					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.4479C>T	CCDS41551.1																																																																																				0.383	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		7	148	0	0	0	1	0	7	148				
CHRNE	1145	broad.mit.edu	37	17	4804399	4804399	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4804399C>T	ENST00000293780.4	-	7	698	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	230					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)	p.V230F(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GAGTAGATGACGTCAGTCTCC	0.652																																						ENST00000293780.4																			1	Substitution - Missense(1)	p.V230F(1)	lung(1)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12	GRCh37	CI991991	CHRNE	I		c.(688-690)Gtc>Atc		cholinergic receptor, nicotinic, epsilon (muscle)							82.0	89.0	87.0					17																	4804399		2203	4300	6503	SO:0001583	missense	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4804399C>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.688G>A	17.37:g.4804399C>T	ENSP00000293780:p.Val230Ile					C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	p.V230I	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN			7	698	-			230					D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.688G>A	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377556	0.24944	.	.	ENSG00000108556	ENST00000293780	T	0.79352	-1.26	4.86	0.51	0.16983	Neurotransmitter-gated ion-channel ligand-binding (3);	0.257039	0.37530	N	0.002045	T	0.43055	0.1230	N	0.03948	-0.315	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.40194	-0.9576	10	0.02654	T	1	.	3.3657	0.07202	0.3062:0.4339:0.0:0.26	.	230	Q04844	ACHE_HUMAN	I	230	ENSP00000293780:V230I	ENSP00000293780:V230I	V	-	1	0	CHRNE	4745178	0.003000	0.15002	0.707000	0.30419	0.835000	0.47333	0.005000	0.13129	0.248000	0.21435	0.655000	0.94253	GTC		0.652	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			114	62	0	0	0	1	0	114	62				
FRMD1	79981	broad.mit.edu	37	6	168463623	168463623	+	Missense_Mutation	SNP	C	C	T	rs115999698	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:168463623C>T	ENST00000283309.6	-	7	885	c.821G>A	c.(820-822)cGt>cAt	p.R274H	FRMD1_ENST00000537786.1_Missense_Mutation_p.R45H|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.R206H	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	274	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.		R -> C (in dbSNP:rs902393).			cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CACGGTGGGACGACCTTCCTT	0.622													C|||	16	0.00319489	0.0113	0.0014	5008	,	,		16992	0.0		0.0	False		,,,				2504	0.0				GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(820-822)cGt>cAt		FERM domain containing 1		C	HIS/ARG,HIS/ARG	33,4373	38.4+/-70.7	0,33,2170	126.0	108.0	114.0		617,821	-5.8	0.0	6	dbSNP_132	114	0,8600		0,0,4300	yes	missense,missense	FRMD1	NM_001122841.1,NM_024919.3	29,29	0,33,6470	TT,TC,CC		0.0,0.749,0.2537	benign,benign	206/482,274/550	168463623	33,12973	2203	4300	6503	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168463623C>T		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.821G>A	6.37:g.168463623C>T	ENSP00000283309:p.Arg274His					FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Missense_Mutation_p.R45H|FRMD1_ENST00000440994.2_Missense_Mutation_p.R206H	p.R274H	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	885	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	274		R -> C (in dbSNP:rs902393).	FERM.		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.821G>A	CCDS5306.1	8	0.003663003663003663	7	0.014227642276422764	1	0.0027624309392265192	0	0.0	0	0.0	C	5.948	0.358866	0.11239	0.00749	0.0	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	D;D;T	0.82984	-1.67;-1.57;1.5	2.89	-5.77	0.02369	FERM domain (1);	0.301075	0.24922	N	0.034532	T	0.56062	0.1960	M	0.61703	1.905	0.09310	N	1	B;B;B;B	0.20459	0.045;0.004;0.006;0.02	B;B;B;B	0.21546	0.035;0.002;0.005;0.013	T	0.43972	-0.9358	10	0.42905	T	0.14	.	6.7172	0.23310	0.1124:0.4555:0.0:0.4321	.	186;274;206;146	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	H	274;206;45	ENSP00000283309:R274H;ENSP00000414115:R206H;ENSP00000440078:R45H	ENSP00000283309:R274H	R	-	2	0	FRMD1	168206472	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.276000	0.08514	-2.595000	0.00454	-3.706000	0.00023	CGT		0.622	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		29	58	0	0	0	1	0	29	58				
FLNB	2317	broad.mit.edu	37	3	58108831	58108831	+	Silent	SNP	C	C	T	rs371901421		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:58108831C>T	ENST00000295956.4	+	21	3303	c.3138C>T	c.(3136-3138)caC>caT	p.H1046H	FLNB_ENST00000357272.4_Silent_p.H1046H|FLNB_ENST00000493452.1_Silent_p.H877H|FLNB_ENST00000358537.3_Silent_p.H1046H|FLNB_ENST00000490882.1_Silent_p.H1046H|FLNB_ENST00000348383.5_Silent_p.H1046H|FLNB_ENST00000429972.2_Silent_p.H1046H|FLNB_ENST00000419752.2_Silent_p.H877H	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1046					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGAAGGCCCACGGTCCCGGCC	0.542																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3136-3138)caC>caT		filamin B, beta		T	,,,	0,4406		0,0,2203	98.0	101.0	100.0		3138,3138,3138,3138	-11.0	0.3	3		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	1046/2634,1046/2592,1046/2579,1046/2603	58108831	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58108831C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3138C>T	3.37:g.58108831C>T						FLNB_ENST00000490882.1_Silent_p.H1046H|FLNB_ENST00000419752.2_Silent_p.H877H|FLNB_ENST00000493452.1_Silent_p.H877H|FLNB_ENST00000348383.5_Silent_p.H1046H|FLNB_ENST00000358537.3_Silent_p.H1046H|FLNB_ENST00000295956.4_Silent_p.H1046H|FLNB_ENST00000429972.2_Silent_p.H1046H	p.H1046H			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	21	3303	+			1046					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.3138C>T	CCDS2885.1																																																																																				0.542	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		35	157	0	0	0	1	0	35	157				
FAM46C	54855	broad.mit.edu	37	1	118166435	118166435	+	Silent	SNP	C	C	T	rs374139482		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:118166435C>T	ENST00000369448.3	+	2	1192	c.945C>T	c.(943-945)aaC>aaT	p.N315N		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	315										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGGTGGTGAACGAGAGCACCG	0.527			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												ENST00000369448.3				Rec	yes		1	1p12	54855	"""Mis, F, O"""	"""family with sequence similarity 46, member C"""			L			MM		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(943-945)aaC>aaT		family with sequence similarity 46, member C		C		0,4406		0,0,2203	167.0	138.0	148.0		945	-6.7	0.8	1		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM46C	NM_017709.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		315/392	118166435	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54855							g.chr1:118166435C>T	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.945C>T	1.37:g.118166435C>T		Multiple Myeloma(3;1.13e-06)					p.N315N	NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	1192	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	315					A3KMG2|Q8NE25|Q9NXK0	Silent	SNP	ENST00000369448.3	37	c.945C>T	CCDS896.1																																																																																				0.527	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		45	62	0	0	0	1	0	45	62				
MYH8	4626	broad.mit.edu	37	17	10299869	10299869	+	Splice_Site	SNP	C	C	T	rs556513030		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:10299869C>T	ENST00000403437.2	-	32	4623		c.e32+1		RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGAGGACTCACGTTGCAAGTT	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.e32+1		myosin, heavy chain 8, skeletal muscle, perinatal							79.0	80.0	80.0					17																	10299869		2203	4300	6503	SO:0001630	splice_region_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10299869C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4528+1G>A	17.37:g.10299869C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA		NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			32	4623	-								Q14910	Splice_Site	SNP	ENST00000403437.2	37		CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502604	0.85176	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0697	0.93127	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH8	10240594	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.525000	0.81892	2.744000	0.94065	0.650000	0.86243	.		0.463	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	Intron	33	14	0	0	0	1	0	33	14				
TMCO6	55374	broad.mit.edu	37	5	140021557	140021557	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140021557G>A	ENST00000394671.3	+	4	518	c.417G>A	c.(415-417)gaG>gaA	p.E139E	TMCO6_ENST00000537378.1_Intron|TMCO6_ENST00000252100.6_Silent_p.E139E|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000511410.1_3'UTR	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	139					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTCCGAGCAGTCCACTG	0.617																																						ENST00000394671.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9						c.(415-417)gaG>gaA		transmembrane and coiled-coil domains 6							76.0	79.0	78.0					5																	140021557		2074	4202	6276	SO:0001819	synonymous_variant	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140021557G>A	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.417G>A	5.37:g.140021557G>A						TMCO6_ENST00000537378.1_Intron|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Silent_p.E139E|TMCO6_ENST00000511410.1_3'UTR	p.E139E	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	518	+			139					Q9BUU0|Q9P198	Silent	SNP	ENST00000394671.3	37	c.417G>A	CCDS4233.2																																																																																				0.617	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		36	167	0	0	0	1	0	36	167				
CELSR1	9620	broad.mit.edu	37	22	46776725	46776725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46776725G>A	ENST00000262738.3	-	22	7215	c.7216C>T	c.(7216-7218)Cga>Tga	p.R2406*		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2406					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)			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)		GGCTTGGTTCGCTCCTCCACC	0.667																																						ENST00000262738.3																			0				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.(7216-7218)Cga>Tga		cadherin, EGF LAG seven-pass G-type receptor 1							51.0	51.0	51.0					22																	46776725		2203	4300	6503	SO:0001587	stop_gained	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.chr22:46776725G>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.7216C>T	22.37:g.46776725G>A	ENSP00000262738:p.Arg2406*						p.R2406*	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	22	7215	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2406					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Nonsense_Mutation	SNP	ENST00000262738.3	37	c.7216C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	47	13.716005	0.99759	.	.	ENSG00000075275	ENST00000262738	.	.	.	4.44	2.05	0.26809	.	0.000000	0.64402	U	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9457	0.47299	0.0:0.0:0.5895:0.4105	.	.	.	.	X	2406	.	ENSP00000262738:R2406X	R	-	1	2	CELSR1	45155389	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.979000	0.40608	2.043000	0.60533	0.491000	0.48974	CGA		0.667	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		23	102	0	0	0	1	0	23	102				
KIF3A	11127	broad.mit.edu	37	5	132051569	132051569	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:132051569G>A	ENST00000378746.4	-	8	1227	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000378735.1_Missense_Mutation_p.R337W|KIF3A_ENST00000403231.1_Missense_Mutation_p.R337W	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	337	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)	p.R337W(2)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGCATACCGTAATGTACTG	0.328																																						ENST00000378746.4																			2	Substitution - Missense(2)	p.R337W(2)	large_intestine(2)	endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1009-1011)Cgg>Tgg		kinesin family member 3A							61.0	58.0	59.0					5																	132051569		2202	4297	6499	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132051569G>A	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1009C>T	5.37:g.132051569G>A	ENSP00000368020:p.Arg337Trp					KIF3A_ENST00000378735.1_Missense_Mutation_p.R337W|KIF3A_ENST00000403231.1_Missense_Mutation_p.R337W|AC004237.1_ENST00000431165.1_RNA	p.R337W	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1227	-		all_cancers(142;0.0751)|Breast(839;0.198)	337			Kinesin-motor.		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.1009C>T	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411505	0.83340	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000450914	T;T;T	0.77750	-1.12;-1.12;-1.12	5.82	5.82	0.92795	Kinesin, motor domain (3);	0.051984	0.85682	D	0.000000	D	0.92841	0.7723	H	0.98951	4.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.997	D	0.94909	0.8063	10	0.87932	D	0	.	14.0014	0.64436	0.0:0.0:0.7483:0.2517	.	337;337;337;337	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	W	337;337;337;337;307	ENSP00000368020:R337W;ENSP00000368009:R337W;ENSP00000385808:R337W	ENSP00000368009:R337W	R	-	1	2	KIF3A	132079468	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.717000	0.54911	2.756000	0.94617	0.563000	0.77884	CGG		0.328	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		7	22	0	0	0	1	0	7	22				
DGKD	8527	broad.mit.edu	37	2	234371341	234371341	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234371341G>A	ENST00000264057.2	+	26	3158	c.3146G>A	c.(3145-3147)cGc>cAc	p.R1049H	DGKD_ENST00000409813.3_Missense_Mutation_p.R1005H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1049					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGAGCTCTGCGCAGTGAGACG	0.597																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(3145-3147)cGc>cAc		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						128.0	132.0	131.0					2																	234371341		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234371341G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.3146G>A	2.37:g.234371341G>A	ENSP00000264057:p.Arg1049His					DGKD_ENST00000409813.3_Missense_Mutation_p.R1005H	p.R1049H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	26	3158	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	1049					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.3146G>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983906	0.35036	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.79141	-1.07;-1.24	4.08	3.19	0.36642	.	0.168242	0.34853	N	0.003637	T	0.47135	0.1429	N	0.02391	-0.57	0.27583	N	0.949535	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24728	-1.0152	10	0.33940	T	0.23	.	3.7986	0.08750	0.3468:0.0:0.6532:0.0	.	1005;1049	Q16760-2;Q16760	.;DGKD_HUMAN	H	1049;1005	ENSP00000264057:R1049H;ENSP00000386455:R1005H	ENSP00000264057:R1049H	R	+	2	0	DGKD	234036080	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.790000	0.62453	2.270000	0.75569	0.655000	0.94253	CGC		0.597	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		38	249	0	0	0	1	0	38	249				
TMEM248	55069	broad.mit.edu	37	7	66415965	66415965	+	Missense_Mutation	SNP	C	C	T	rs200886278		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:66415965C>T	ENST00000341567.4	+	5	878	c.623C>T	c.(622-624)aCg>aTg	p.T208M		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	208						integral component of membrane (GO:0016021)											GTTCCTGACACGTACAGCAAC	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18453	0.0		0.0	False		,,,				2504	0.0					ENST00000341567.4																			0											c.(622-624)aCg>aTg		transmembrane protein 248							211.0	184.0	193.0					7																	66415965		2203	4300	6503	SO:0001583	missense	55069							g.chr7:66415965C>T		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.623C>T	7.37:g.66415965C>T	ENSP00000340668:p.Thr208Met						p.T208M	NM_017994.4	NP_060464.1					5	878	+								Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	c.623C>T	CCDS5536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	26.8	4.772286	0.90108	.	.	ENSG00000106609	ENST00000341567	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.52672	0.706	T	0.63739	-0.6569	9	0.87932	D	0	-16.5062	19.5705	0.95413	0.0:1.0:0.0:0.0	.	208	Q9NWD8	CG042_HUMAN	M	208	.	ENSP00000340668:T208M	T	+	2	0	C7orf42	66053400	1.000000	0.71417	0.972000	0.41901	0.700000	0.40528	5.562000	0.67346	2.941000	0.99782	0.655000	0.94253	ACG		0.522	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		60	277	0	0	0	1	0	60	277				
SVILP1	645954	broad.mit.edu	37	10	30984970	30984970	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:30984970G>A	ENST00000435645.1	+	0	258									supervillin pseudogene 1																		CAACAGCGCCGTGCCCTTCAA	0.542																																						ENST00000435645.1																			0																																																			0							g.chr10:30984970G>A			10p11.23	2012-12-20			ENSG00000234814	ENSG00000234814			44959	pseudogene	pseudogene							Standard	NR_036438		Approved				OTTHUMG00000017900		10.37:g.30984970G>A														0	258	+									RNA	SNP	ENST00000435645.1	37																																																																																						0.542	SVILP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331601.1			3	17	0	0	0	1	0	3	17				
DNAJC11	55735	broad.mit.edu	37	1	6697342	6697342	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6697342G>A	ENST00000377577.5	-	14	1563	c.1440C>T	c.(1438-1440)agC>agT	p.S480S	DNAJC11_ENST00000542246.1_Silent_p.S442S|DNAJC11_ENST00000294401.7_Silent_p.S428S|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.S390S|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	480						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTCTCGCTCTTCCTGC	0.567																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(1438-1440)agC>agT		DnaJ (Hsp40) homolog, subfamily C, member 11							278.0	213.0	235.0					1																	6697342		2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6697342G>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1440C>T	1.37:g.6697342G>A						DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.S390S|DNAJC11_ENST00000294401.7_Silent_p.S428S|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Silent_p.S442S	p.S480S	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	14	1563	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	480					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.1440C>T	CCDS87.1																																																																																				0.567	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		68	143	0	0	0	1	0	68	143				
ZFYVE28	57732	broad.mit.edu	37	4	2306942	2306942	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2306942C>T	ENST00000290974.2	-	8	1464	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	ZFYVE28_ENST00000515312.1_Silent_p.A305A|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.A345A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	375					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGCTGCCCTCCGCTCCTGGCC	0.667																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1123-1125)gcG>gcA		zinc finger, FYVE domain containing 28							37.0	38.0	38.0					4																	2306942		2203	4299	6502	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306942C>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1125G>A	4.37:g.2306942C>T						ZFYVE28_ENST00000511071.1_Silent_p.A345A|ZFYVE28_ENST00000515312.1_Silent_p.A305A|RP11-478C1.7_ENST00000510632.1_RNA	p.A375A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	1464	-			375					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.1125G>A	CCDS33942.1																																																																																				0.667	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		48	84	0	0	0	1	0	48	84				
CELSR1	9620	broad.mit.edu	37	22	46806347	46806347	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46806347G>A	ENST00000262738.3	-	7	4880	c.4881C>T	c.(4879-4881)gaC>gaT	p.D1627D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1627	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			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)		CATTTTTGCCGTCGACTGACA	0.632																																						ENST00000262738.3																			0				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.(4879-4881)gaC>gaT		cadherin, EGF LAG seven-pass G-type receptor 1							127.0	110.0	116.0					22																	46806347		2203	4300	6503	SO:0001819	synonymous_variant	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.chr22:46806347G>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.4881C>T	22.37:g.46806347G>A							p.D1627D	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	7	4880	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1627			Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.4881C>T	CCDS14076.1																																																																																				0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		76	132	0	0	0	1	0	76	132				
PTPRF	5792	broad.mit.edu	37	1	44056971	44056971	+	Silent	SNP	C	C	T	rs556161672		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:44056971C>T	ENST00000359947.4	+	9	1618	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372413.3_Silent_p.S426S|PTPRF_ENST00000372414.3_Silent_p.S426S|PTPRF_ENST00000438120.1_Silent_p.S426S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	426	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCATGCTGAGCGCCAGCACCA	0.726													c|||	1	0.000199681	0.0	0.0	5008	,	,		15073	0.0		0.001	False		,,,				2504	0.0					ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(1276-1278)agC>agT		protein tyrosine phosphatase, receptor type, F							10.0	9.0	9.0					1																	44056971		2080	4071	6151	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44056971C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1278C>T	1.37:g.44056971C>T						PTPRF_ENST00000372413.3_Silent_p.S426S|PTPRF_ENST00000438120.1_Silent_p.S426S|PTPRF_ENST00000372414.3_Silent_p.S426S	p.S426S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			9	1618	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	426			Fibronectin type-III 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.1278C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.850|9.850	1.193433|1.193433	0.22037|0.22037	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000412568	.|.	.|.	.|.	5.48|5.48	-5.46|-5.46	0.02608|0.02608	.|.	.|.	.|.	.|.	.|.	T|T	0.66086|0.66086	0.2754|0.2754	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66563|0.66563	-0.5892|-0.5892	4|4	.|.	.|.	.|.	.|.	17.6837|17.6837	0.88251|0.88251	0.0:0.2087:0.0:0.7913|0.0:0.2087:0.0:0.7913	.|.	.|.	.|.	.|.	V|C	83|94	.|.	.|.	A|R	+|+	2|1	0|0	PTPRF|PTPRF	43829558|43829558	0.000000|0.000000	0.05858|0.05858	0.607000|0.607000	0.28956|0.28956	0.904000|0.904000	0.53231|0.53231	-2.287000|-2.287000	0.01151|0.01151	-1.482000|-1.482000	0.01860|0.01860	-0.964000|-0.964000	0.02622|0.02622	GCG|CGC		0.726	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			6	6	0	0	0	1	0	6	6				
RASGRP2	10235	broad.mit.edu	37	11	64506852	64506852	+	Missense_Mutation	SNP	C	C	T	rs542524220		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64506852C>T	ENST00000354024.3	-	8	1045	c.793G>A	c.(793-795)Gtt>Att	p.V265I	RASGRP2_ENST00000394432.3_Missense_Mutation_p.V265I|RASGRP2_ENST00000377494.1_Missense_Mutation_p.V265I|RASGRP2_ENST00000377497.3_Missense_Mutation_p.V265I	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	265	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAGGGCTAACGTGGCTGTGG	0.642																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(793-795)Gtt>Att		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							74.0	73.0	74.0					11																	64506852		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64506852C>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.793G>A	11.37:g.64506852C>T	ENSP00000338864:p.Val265Ile					RASGRP2_ENST00000394432.3_Missense_Mutation_p.V265I|RASGRP2_ENST00000377497.3_Missense_Mutation_p.V265I|RASGRP2_ENST00000354024.3_Missense_Mutation_p.V265I	p.V265I			Q7LDG7	GRP2_HUMAN			7	1715	-			265			Ras-GEF.		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.793G>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	7.736	0.700184	0.15106	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.93	1.94	0.25998	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.338978	0.30392	N	0.009725	T	0.22475	0.0542	L	0.28776	0.89	0.80722	D	1	B;B	0.17852	0.011;0.024	B;B	0.23419	0.023;0.046	T	0.05289	-1.0894	10	0.28530	T	0.3	-1.5348	5.5172	0.16914	0.0:0.4666:0.3527:0.1807	.	265;265	Q7LDG7;A6NDC7	GRP2_HUMAN;.	I	265	ENSP00000366714:V265I;ENSP00000377953:V265I;ENSP00000366717:V265I;ENSP00000338864:V265I	ENSP00000338864:V265I	V	-	1	0	RASGRP2	64263428	0.049000	0.20398	0.155000	0.22561	0.107000	0.19398	0.117000	0.15583	0.195000	0.20347	-0.181000	0.13052	GTT		0.642	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		11	66	0	0	0	1	0	11	66				
C16orf58	64755	broad.mit.edu	37	16	31512031	31512031	+	Missense_Mutation	SNP	C	C	T	rs550615888		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31512031C>T	ENST00000327237.2	-	3	476	c.437G>A	c.(436-438)cGc>cAc	p.R146H	C16orf58_ENST00000570164.1_Missense_Mutation_p.R146H|C16orf58_ENST00000430477.2_Missense_Mutation_p.R4H|C16orf58_ENST00000567994.1_Missense_Mutation_p.R101H			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	146						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						AAAGACGATGCGGCCCAGCAT	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		20800	0.0		0.0	False		,,,				2504	0.001					ENST00000327237.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						c.(436-438)cGc>cAc		chromosome 16 open reading frame 58							91.0	87.0	88.0					16																	31512031		2197	4300	6497	SO:0001583	missense	64755					integral to membrane		g.chr16:31512031C>T	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.437G>A	16.37:g.31512031C>T	ENSP00000317579:p.Arg146His					C16orf58_ENST00000567994.1_Missense_Mutation_p.R101H|C16orf58_ENST00000430477.2_Missense_Mutation_p.R4H|C16orf58_ENST00000570164.1_Missense_Mutation_p.R146H	p.R146H			Q96GQ5	CP058_HUMAN			3	476	-			146					Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	ENST00000327237.2	37	c.437G>A	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348453	0.95807	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000541442;ENST00000430477	T;T	0.47528	0.84;0.84	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.79327	-0.1849	10	0.56958	D	0.05	-17.7932	17.0016	0.86382	0.0:1.0:0.0:0.0	.	4;146	B4DJP2;Q96GQ5	.;CP058_HUMAN	H	146;100;146;4	ENSP00000317579:R146H;ENSP00000398074:R4H	ENSP00000317579:R146H	R	-	2	0	C16orf58	31419532	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.238000	0.65366	2.591000	0.87537	0.557000	0.71058	CGC		0.542	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		14	54	0	0	0	1	0	14	54				
KCNA1	3736	broad.mit.edu	37	12	5021390	5021390	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:5021390C>T	ENST00000382545.3	+	2	1953	c.846C>T	c.(844-846)ggC>ggT	p.G282G	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	282					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	ACCAGAAGGGCGAGCAGGCCA	0.517																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(844-846)ggC>ggT		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						67.0	71.0	70.0					12																	5021390		2203	4300	6503	SO:0001819	synonymous_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021390C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.846C>T	12.37:g.5021390C>T						KCNA1_ENST00000543874.2_Intron	p.G282G	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1953	+			282					A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	c.846C>T	CCDS8535.1																																																																																				0.517	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		54	94	0	0	0	1	0	54	94				
BMP1	649	broad.mit.edu	37	8	22037987	22037987	+	Silent	SNP	C	C	T	rs199556894		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:22037987C>T	ENST00000306385.5	+	8	1738	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Silent_p.P356P|BMP1_ENST00000397816.3_Silent_p.P356P|BMP1_ENST00000397814.3_Silent_p.P356P	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	356	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTCACACCCGGGGAGAAGG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19093	0.0		0.001	False		,,,				2504	0.0					ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1066-1068)ccC>ccT		bone morphogenetic protein 1		C	,	1,4405	2.1+/-5.4	0,1,2202	164.0	141.0	149.0		1068,1068	-5.4	0.7	8		149	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BMP1	NM_001199.3,NM_006129.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	356/731,356/987	22037987	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22037987C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1068C>T	8.37:g.22037987C>T						BMP1_ENST00000306349.8_Silent_p.P356P|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.P356P|BMP1_ENST00000397814.3_Silent_p.P356P	p.P356P	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	8	1738	+			356			CUB 1.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.1068C>T	CCDS6026.1																																																																																				0.612	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		51	83	0	0	0	1	0	51	83				
HELZ2	85441	broad.mit.edu	37	20	62195519	62195519	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62195519C>T	ENST00000467148.1	-	8	4725	c.4656G>A	c.(4654-4656)ctG>ctA	p.L1552L	HELZ2_ENST00000427522.2_Silent_p.L983L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1552					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCTGCCACCGCAGAGGCGTGA	0.647																																						ENST00000467148.1																			0											c.(4654-4656)ctG>ctA		helicase with zinc finger 2, transcriptional coactivator							23.0	18.0	20.0					20																	62195519		2186	4292	6478	SO:0001819	synonymous_variant	85441							g.chr20:62195519C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4656G>A	20.37:g.62195519C>T						HELZ2_ENST00000427522.2_Silent_p.L983L	p.L1552L	NM_001037335.2	NP_001032412.2					8	4725	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.4656G>A	CCDS33508.1																																																																																				0.647	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		12	35	0	0	0	1	0	12	35				
ZNF658	26149	broad.mit.edu	37	9	40774426	40774426	+	Silent	SNP	G	G	A	rs527598062	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:40774426G>A	ENST00000602553.1	-	5	1143	c.849C>T	c.(847-849)acC>acT	p.T283T	ZNF658_ENST00000441795.1_Silent_p.T281T|ZNF658_ENST00000377626.3_Silent_p.T283T			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTCAACAGCGGTGGTTTTGT	0.383													G|||	3	0.000599042	0.0	0.0	5008	,	,		18795	0.002		0.0	False		,,,				2504	0.001					ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(847-849)acC>acT		zinc finger protein 658							119.0	124.0	122.0					9																	40774426		2203	4297	6500	SO:0001819	synonymous_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774426G>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.849C>T	9.37:g.40774426G>A						ZNF658_ENST00000441795.1_Silent_p.T281T|ZNF658_ENST00000377626.3_Silent_p.T283T	p.T283T			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1143	-			283					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	c.849C>T	CCDS35023.1																																																																																				0.383	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		8	185	0	0	0	1	0	8	185				
SFR1	119392	broad.mit.edu	37	10	105883598	105883598	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105883598G>A	ENST00000369727.3	+	3	281	c.262G>A	c.(262-264)Gca>Aca	p.A88T	SFR1_ENST00000369729.3_Missense_Mutation_p.A75T|SFR1_ENST00000336358.5_Missense_Mutation_p.A150T	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	88					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											AGAGAAACCAGCATCTTCCAC	0.299																																						ENST00000336358.5																			0											c.(448-450)Gca>Aca		SWI5-dependent recombination repair 1							61.0	68.0	66.0					10																	105883598		2202	4298	6500	SO:0001583	missense	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105883598G>A	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.262G>A	10.37:g.105883598G>A	ENSP00000358742:p.Ala88Thr					SFR1_ENST00000369729.3_Missense_Mutation_p.A75T|SFR1_ENST00000369727.3_Missense_Mutation_p.A88T	p.A150T			Q86XK3	SFR1_HUMAN			2	967	+			88					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	ENST00000369727.3	37	c.448G>A	CCDS31279.1	.	.	.	.	.	.	.	.	.	.	G	8.997	0.979113	0.18812	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	T;T;T	0.46819	0.94;0.92;0.86	5.62	-2.63	0.06133	.	1.740710	0.02434	N	0.083877	T	0.28764	0.0713	N	0.25647	0.755	0.09310	N	1	B;B	0.22146	0.053;0.065	B;B	0.24394	0.053;0.042	T	0.05599	-1.0875	10	0.12430	T	0.62	-0.4022	1.6603	0.02790	0.1646:0.2814:0.2923:0.2617	.	150;88	Q86XK3-2;Q86XK3	.;SFR1_HUMAN	T	75;88;150	ENSP00000358744:A75T;ENSP00000358742:A88T;ENSP00000338089:A150T	ENSP00000338089:A150T	A	+	1	0	SFR1	105873588	0.000000	0.05858	0.003000	0.11579	0.983000	0.72400	0.079000	0.14782	-0.110000	0.12022	-0.176000	0.13171	GCA		0.299	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		8	79	0	0	0	1	0	8	79				
TJP1	7082	broad.mit.edu	37	15	30003072	30003072	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:30003072C>T	ENST00000346128.6	-	24	4809	c.4335G>A	c.(4333-4335)gcG>gcA	p.A1445A	TJP1_ENST00000400011.2_Silent_p.A1369A|TJP1_ENST00000545208.2_Silent_p.A1365A|TJP1_ENST00000356107.6_Silent_p.A1445A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1445					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTGGAGAGACGCGCTGGTGA	0.498																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4333-4335)gcG>gcA		tight junction protein 1							158.0	168.0	164.0					15																	30003072		2055	4192	6247	SO:0001819	synonymous_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30003072C>T		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4335G>A	15.37:g.30003072C>T						TJP1_ENST00000400011.2_Silent_p.A1369A|TJP1_ENST00000545208.2_Silent_p.A1365A|TJP1_ENST00000356107.6_Silent_p.A1445A	p.A1445A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	24	4809	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1445					B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	c.4335G>A	CCDS42007.1																																																																																				0.498	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		56	256	0	0	0	1	0	56	256				
KLRC2	3822	broad.mit.edu	37	12	10584712	10584712	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:10584712T>C	ENST00000381902.2	-	5	583	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	KLRC2_ENST00000381901.1_Missense_Mutation_p.K193E|KLRC2_ENST00000536833.2_Missense_Mutation_p.K134E|NKG2-E_ENST00000539033.1_Intron	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	193	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TACTTATGTTTGAAAGCCAAA	0.313																																						ENST00000381902.2																			0				kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(577-579)Aaa>Gaa		killer cell lectin-like receptor subfamily C, member 2							56.0	54.0	55.0					12																	10584712		2050	4147	6197	SO:0001583	missense	3822				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10584712T>C	X54869	CCDS31745.1	12p13	2009-12-03				ENSG00000205809		"""Killer cell lectin-like receptors"", ""CD molecules"""	6375	protein-coding gene	gene with protein product		602891				9598306	Standard	NM_002260		Approved	NKG2-C, CD159c		P26717		ENST00000381902.2:c.577A>G	12.37:g.10584712T>C	ENSP00000371327:p.Lys193Glu					NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_Missense_Mutation_p.K134E|KLRC2_ENST00000381901.1_Missense_Mutation_p.K193E	p.K193E	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN			5	583	-			193			C-type lectin.		O43802|Q52M74|Q9NR42	Missense_Mutation	SNP	ENST00000381902.2	37	c.577A>G	CCDS31745.1	.	.	.	.	.	.	.	.	.	.	t	12.13	1.847075	0.32606	.	.	ENSG00000205809	ENST00000381902;ENST00000381901;ENST00000396433;ENST00000536833	T;T;T	0.07688	3.17;3.17;3.17	1.87	0.621	0.17643	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.40222	N	0.001148	T	0.19208	0.0461	M	0.88842	2.985	0.09310	N	1	P;P	0.41450	0.651;0.75	P;P	0.50570	0.526;0.644	T	0.07009	-1.0795	10	0.87932	D	0	.	3.9089	0.09194	0.3253:0.0:0.0:0.6747	.	179;193	Q3KQS7;P26717	.;NKG2C_HUMAN	E	193;193;86;134	ENSP00000371327:K193E;ENSP00000371326:K193E;ENSP00000444754:K134E	ENSP00000371326:K193E	K	-	1	0	KLRC2	10475979	0.004000	0.15560	0.001000	0.08648	0.006000	0.05464	0.376000	0.20535	0.160000	0.19432	0.397000	0.26171	AAA		0.313	KLRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400111.1	NM_002260		12	51	0	0	0	1	0	12	51				
GANAB	23193	broad.mit.edu	37	11	62397318	62397318	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62397318G>A	ENST00000356638.3	-	14	1721	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	GANAB_ENST00000540933.1_Missense_Mutation_p.R472W|GANAB_ENST00000346178.4_Missense_Mutation_p.R591W|GANAB_ENST00000534779.1_Missense_Mutation_p.R477W	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	569					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGCACATCCCGGTGCTCCCAG	0.522																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1771-1773)Cgg>Tgg		glucosidase, alpha; neutral AB							98.0	87.0	91.0					11																	62397318		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62397318G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1705C>T	11.37:g.62397318G>A	ENSP00000349053:p.Arg569Trp					GANAB_ENST00000356638.3_Missense_Mutation_p.R569W|GANAB_ENST00000540933.1_Missense_Mutation_p.R472W|GANAB_ENST00000534779.1_Missense_Mutation_p.R477W	p.R591W	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			15	1786	-			569					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.1771C>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678823	0.68042	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.31	5.31	0.75309	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97176	0.9077	H	0.96777	3.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.997	D;D;D;D	0.97110	1.0;1.0;0.911;0.915	D	0.97442	1.0022	10	0.87932	D	0	-19.1509	11.4061	0.49898	0.0:0.0:0.82:0.18	.	455;477;569;591	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	W	591;569;477;472	ENSP00000340466:R591W;ENSP00000349053:R569W;ENSP00000435306:R477W;ENSP00000442962:R472W	ENSP00000340466:R591W	R	-	1	2	GANAB	62153894	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.005000	0.63972	2.779000	0.95612	0.655000	0.94253	CGG		0.522	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		5	120	0	0	0	1	0	5	120				
KMT2B	9757	broad.mit.edu	37	19	36216664	36216664	+	Missense_Mutation	SNP	C	C	T	rs558770050	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:36216664C>T	ENST00000222270.7	+	13	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.P1277L	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1277					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCATACCACCCGGCCTGTCTG	0.602													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18427	0.0		0.0	False		,,,				2504	0.0					ENST00000420124.1																			0											c.(3829-3831)cCg>cTg									22.0	27.0	26.0					19																	36216664		2111	4227	6338	SO:0001583	missense	0							g.chr19:36216664C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3830C>T	19.37:g.36216664C>T	ENSP00000222270:p.Pro1277Leu					WBP7_ENST00000222270.7_Missense_Mutation_p.P1277L|KMT2B_ENST00000607650.1_RNA	p.P1277L							13	3830	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3830C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014830	0.54468	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.86230	-2.09;-2.09	5.32	5.32	0.75619	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.44483	D	0.000450	T	0.79458	0.4449	L	0.46157	1.445	0.49299	D	0.999773	B	0.34161	0.439	B	0.25506	0.061	T	0.77250	-0.2657	10	0.42905	T	0.14	.	7.9005	0.29731	0.0:0.8337:0.0:0.1663	.	1277	Q9UMN6	MLL4_HUMAN	L	1277	ENSP00000222270:P1277L;ENSP00000398837:P1277L	ENSP00000222270:P1277L	P	+	2	0	AD000671.1	40908504	0.995000	0.38212	1.000000	0.80357	0.894000	0.52154	3.444000	0.52914	2.771000	0.95319	0.655000	0.94253	CCG		0.602	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		4	12	0	0	0	1	0	4	12				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	59	0	0	0	1	0	4	59				
ABCG4	64137	broad.mit.edu	37	11	119029628	119029628	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:119029628G>A	ENST00000449422.2	+	12	1614	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	ABCG4_ENST00000531739.1_Missense_Mutation_p.V476M|ABCG4_ENST00000307417.3_Missense_Mutation_p.V476M|AP002956.1_ENST00000599663.1_5'Flank	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	476	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CATGGCTGACGTGCCCTTTCA	0.542																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1426-1428)Gtg>Atg		ATP-binding cassette, sub-family G (WHITE), member 4							259.0	167.0	198.0					11																	119029628		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119029628G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1426G>A	11.37:g.119029628G>A	ENSP00000406874:p.Val476Met					ABCG4_ENST00000531739.1_Missense_Mutation_p.V476M|ABCG4_ENST00000449422.2_Missense_Mutation_p.V476M	p.V476M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	12	1790	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	476			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1426G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331467	0.60853	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.73047	-0.71;-0.71;-0.71	5.73	5.73	0.89815	ABC-2 type transporter (1);	0.051852	0.85682	D	0.000000	T	0.69468	0.3114	L	0.45051	1.395	0.58432	D	0.999994	P	0.46952	0.887	B	0.44163	0.443	T	0.70967	-0.4728	10	0.49607	T	0.09	-24.3139	19.5014	0.95097	0.0:0.0:1.0:0.0	.	476	Q9H172	ABCG4_HUMAN	M	476	ENSP00000304111:V476M;ENSP00000406874:V476M;ENSP00000434318:V476M	ENSP00000304111:V476M	V	+	1	0	ABCG4	118534838	1.000000	0.71417	0.969000	0.41365	0.988000	0.76386	6.091000	0.71406	2.693000	0.91896	0.655000	0.94253	GTG		0.542	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		47	136	0	0	0	1	0	47	136				
ALPK3	57538	broad.mit.edu	37	15	85403041	85403041	+	Missense_Mutation	SNP	G	G	A	rs377209768		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85403041G>A	ENST00000258888.5	+	8	4773	c.4606G>A	c.(4606-4608)Gtg>Atg	p.V1536M		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1536	Ig-like 2.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTGGCCATCGTGCAGGCCTC	0.657																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(4606-4608)Gtg>Atg		alpha-kinase 3		G	MET/VAL	1,4403	2.1+/-5.4	0,1,2201	30.0	29.0	29.0		4606	5.5	1.0	15		29	0,8598		0,0,4299	no	missense	ALPK3	NM_020778.4	21	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1536/1908	85403041	1,13001	2202	4299	6501	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85403041G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4606G>A	15.37:g.85403041G>A	ENSP00000258888:p.Val1536Met						p.V1536M	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	4773	+			1536			Ig-like 2.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.4606G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154194	0.78114	2.27E-4	0.0	ENSG00000136383	ENST00000258888	T	0.42900	0.96	5.52	5.52	0.82312	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.072838	0.53938	D	0.000044	T	0.63628	0.2527	M	0.67397	2.05	0.34862	D	0.742698	D	0.89917	1.0	D	0.72075	0.976	T	0.73792	-0.3871	10	0.87932	D	0	-7.7075	16.929	0.86184	0.0:0.0:1.0:0.0	.	1536	Q96L96	ALPK3_HUMAN	M	1536	ENSP00000258888:V1536M	ENSP00000258888:V1536M	V	+	1	0	ALPK3	83204045	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.845000	0.62853	2.599000	0.87857	0.563000	0.77884	GTG		0.657	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		36	42	0	0	0	1	0	36	42				
DHX35	60625	broad.mit.edu	37	20	37659354	37659354	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:37659354C>T	ENST00000252011.3	+	20	1924	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C	DHX35_ENST00000373325.2_Intron|DHX35_ENST00000373323.4_Missense_Mutation_p.R600C	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	631					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAGGACCATCCGTGATGACCA	0.438																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1891-1893)Cgt>Tgt		DEAH (Asp-Glu-Ala-His) box polypeptide 35							123.0	101.0	109.0					20																	37659354		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37659354C>T	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1891C>T	20.37:g.37659354C>T	ENSP00000252011:p.Arg631Cys					DHX35_ENST00000373323.4_Missense_Mutation_p.R600C|DHX35_ENST00000373325.2_Intron	p.R631C	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			20	1924	+		Myeloproliferative disorder(115;0.00878)	631					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1891C>T	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279248	0.80692	.	.	ENSG00000101452	ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	T;T;T	0.34275	3.92;3.92;1.37	5.76	4.81	0.61882	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	M	0.90650	3.135	0.80722	D	1	P;D	0.89917	0.874;1.0	B;D	0.73380	0.247;0.98	T	0.75548	-0.3279	10	0.62326	D	0.03	.	16.0891	0.81080	0.0:0.8654:0.1346:0.0	.	600;631	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	C	631;600;111;95	ENSP00000252011:R631C;ENSP00000362420:R600C;ENSP00000397997:R95C	ENSP00000252011:R631C	R	+	1	0	DHX35	37092768	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	4.636000	0.61339	1.564000	0.49628	0.655000	0.94253	CGT		0.438	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		40	100	0	0	0	1	0	40	100				
DARS2	55157	broad.mit.edu	37	1	173826739	173826739	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:173826739G>A	ENST00000361951.4	+	17	2561	c.1834G>A	c.(1834-1836)Gac>Aac	p.D612N	DARS2_ENST00000471476.1_3'UTR|DARS2_ENST00000239457.5_Missense_Mutation_p.D157N	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	612					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CCGGGGACATGACCTCATGAG	0.483																																						ENST00000361951.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30						c.(1834-1836)Gac>Aac		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						142.0	126.0	132.0					1																	173826739		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173826739G>A	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1834G>A	1.37:g.173826739G>A	ENSP00000355086:p.Asp612Asn					DARS2_ENST00000239457.5_Missense_Mutation_p.D157N|DARS2_ENST00000471476.1_3'UTR	p.D612N	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN			17	2561	+			612						Missense_Mutation	SNP	ENST00000361951.4	37	c.1834G>A	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144990	0.94603	.	.	ENSG00000117593	ENST00000361951;ENST00000239457	D;D	0.92699	-2.14;-3.09	5.65	4.72	0.59763	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94984	0.8128	10	0.19590	T	0.45	-21.8107	14.7061	0.69191	0.0:0.0:0.8536:0.1464	.	612	Q6PI48	SYDM_HUMAN	N	612;157	ENSP00000355086:D612N;ENSP00000239457:D157N	ENSP00000239457:D157N	D	+	1	0	DARS2	172093362	1.000000	0.71417	0.964000	0.40570	0.870000	0.49936	9.869000	0.99810	1.344000	0.45657	0.555000	0.69702	GAC		0.483	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		31	122	0	0	0	1	0	31	122				
DHX38	9785	broad.mit.edu	37	16	72130788	72130788	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72130788C>T	ENST00000268482.3	+	3	900	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	TXNL4B_ENST00000426362.2_5'Flank|DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	131					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTTTTGGGAACGCAGTCGGCA	0.547																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(391-393)Cgc>Tgc		DEAH (Asp-Glu-Ala-His) box polypeptide 38							181.0	184.0	183.0					16																	72130788		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72130788C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.391C>T	16.37:g.72130788C>T	ENSP00000268482:p.Arg131Cys					DHX38_ENST00000536867.1_Intron	p.R131C	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			3	900	+		Ovarian(137;0.125)	131					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.391C>T	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989043	0.74589	.	.	ENSG00000140829	ENST00000268482	T	0.03635	3.86	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.11153	0.0272	M	0.82517	2.595	0.80722	D	1	D	0.64830	0.994	P	0.44597	0.454	T	0.03354	-1.1045	10	0.87932	D	0	.	18.9235	0.92536	0.0:1.0:0.0:0.0	.	131	Q92620	PRP16_HUMAN	C	131	ENSP00000268482:R131C	ENSP00000268482:R131C	R	+	1	0	DHX38	70688289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.613000	0.54152	2.529000	0.85273	0.561000	0.74099	CGC		0.547	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		148	154	0	0	0	1	0	148	154				
TSKS	60385	broad.mit.edu	37	19	50265270	50265270	+	Silent	SNP	C	C	T	rs574376117		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50265270C>T	ENST00000246801.3	-	2	472	c.390G>A	c.(388-390)acG>acA	p.T130T	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	130					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCAGGATTTCCGTGATGTCTG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16540	0.0		0.0	False		,,,				2504	0.0					ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(388-390)acG>acA		testis-specific serine kinase substrate							58.0	54.0	56.0					19																	50265270		2203	4300	6503	SO:0001819	synonymous_variant	60385						protein binding	g.chr19:50265270C>T	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.390G>A	19.37:g.50265270C>T							p.T130T	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	2	472	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	130					Q8WXJ0	Silent	SNP	ENST00000246801.3	37	c.390G>A	CCDS12780.1																																																																																				0.622	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		9	111	0	0	0	1	0	9	111				
L3MBTL2	83746	broad.mit.edu	37	22	41620136	41620136	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:41620136G>A	ENST00000216237.5	+	9	1213	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	352					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCGGGGGTCGCCTACGGCTC	0.607																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1054-1056)cGc>cAc		l(3)mbt-like 2 (Drosophila)							83.0	70.0	75.0					22																	41620136		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41620136G>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1055G>A	22.37:g.41620136G>A	ENSP00000216237:p.Arg352His						p.R352H	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			9	1213	+			352					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.1055G>A	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648235	0.96714	.	.	ENSG00000100395	ENST00000216237	T	0.35789	1.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.70535	0.3235	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78949	-0.2002	10	0.87932	D	0	.	18.8704	0.92311	0.0:0.0:1.0:0.0	.	352;352	Q969R5-3;Q969R5	.;LMBL2_HUMAN	H	352	ENSP00000216237:R352H	ENSP00000216237:R352H	R	+	2	0	L3MBTL2	39950082	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.843000	0.99491	2.481000	0.83766	0.655000	0.94253	CGC		0.607	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		45	88	0	0	0	1	0	45	88				
ILF3	3609	broad.mit.edu	37	19	10790547	10790547	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:10790547C>T	ENST00000590261.1	+	7	803	c.803C>T	c.(802-804)gCt>gTt	p.A268V	ILF3_ENST00000420083.1_Missense_Mutation_p.A268V|ILF3_ENST00000592763.1_Missense_Mutation_p.A268V|ILF3_ENST00000407004.3_Missense_Mutation_p.A268V|ILF3_ENST00000449870.1_Missense_Mutation_p.A268V|ILF3_ENST00000588657.1_Missense_Mutation_p.A268V|ILF3_ENST00000589998.1_Missense_Mutation_p.A268V|ILF3_ENST00000318511.3_Missense_Mutation_p.A268V|ILF3_ENST00000250241.8_Missense_Mutation_p.A268V			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	268	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCGATGGGTGCTGGCGAGGCC	0.612																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(802-804)gCt>gTt		interleukin enhancer binding factor 3, 90kDa							73.0	65.0	68.0					19																	10790547		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10790547C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.803C>T	19.37:g.10790547C>T	ENSP00000468156:p.Ala268Val					ILF3_ENST00000589998.1_Missense_Mutation_p.A268V|ILF3_ENST00000250241.8_Missense_Mutation_p.A268V|ILF3_ENST00000420083.1_Missense_Mutation_p.A268V|ILF3_ENST00000592763.1_Missense_Mutation_p.A268V|ILF3_ENST00000588657.1_Missense_Mutation_p.A268V|ILF3_ENST00000590261.1_Missense_Mutation_p.A268V|ILF3_ENST00000318511.3_Missense_Mutation_p.A268V|ILF3_ENST00000407004.3_Missense_Mutation_p.A268V	p.A268V	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		8	1120	+			268			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.803C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092988	0.56075	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	5.14	4.1	0.47936	DZF (2);	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	L	0.48642	1.525	0.80722	D	1	D;D;D;P;D;D	0.76494	0.965;0.993;0.999;0.537;0.975;0.998	P;D;D;B;P;D	0.83275	0.78;0.915;0.996;0.236;0.778;0.994	T	0.50004	-0.8878	10	0.25751	T	0.34	.	14.3232	0.66502	0.1497:0.8503:0.0:0.0	.	268;268;268;268;268;268	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	V	268	ENSP00000404121:A268V;ENSP00000315205:A268V;ENSP00000405436:A268V;ENSP00000384660:A268V;ENSP00000250241:A268V	ENSP00000250241:A268V	A	+	2	0	ILF3	10651547	1.000000	0.71417	0.908000	0.35775	0.973000	0.67179	7.741000	0.84997	1.275000	0.44379	0.650000	0.86243	GCT		0.612	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			4	89	0	0	0	1	0	4	89				
TDG	6996	broad.mit.edu	37	12	104376688	104376688	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104376688C>T	ENST00000392872.3	+	5	824	c.590C>T	c.(589-591)aCg>aTg	p.T197M	TDG_ENST00000542036.1_Missense_Mutation_p.R21C|TDG_ENST00000266775.9_Missense_Mutation_p.T193M|TDG_ENST00000544861.1_Missense_Mutation_p.T54M|AC078819.1_ENST00000401157.1_RNA	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	197					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GAAAGGACCACGCCCGGCAGC	0.463								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(589-591)aCg>aTg	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							100.0	94.0	96.0					12																	104376688		2203	4300	6503	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104376688C>T	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.590C>T	12.37:g.104376688C>T	ENSP00000376611:p.Thr197Met					TDG_ENST00000544861.1_Missense_Mutation_p.T54M|TDG_ENST00000542036.1_Missense_Mutation_p.R21C|TDG_ENST00000266775.9_Missense_Mutation_p.T193M	p.T197M	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	5	824	+			197					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.590C>T	CCDS9095.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.720127|4.720127	0.89205|0.89205	.|.	.|.	ENSG00000139372|ENSG00000139372	ENST00000542036|ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100	T|T;T;T;T	0.28069|0.48522	1.63|0.81;0.81;0.81;0.81	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Uracil-DNA glycosylase-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72503|0.72503	0.3468|0.3468	M|M	0.87682|0.87682	2.9|2.9	0.80722|0.80722	D|D	1|1	D|D;D	0.89917|0.76494	1.0|0.999;0.999	D|P;D	0.65773|0.63113	0.938|0.88;0.911	T|T	0.78170|0.78170	-0.2308|-0.2308	9|10	0.87932|0.87932	D|D	0|0	-14.7677|-14.7677	19.1762|19.1762	0.93603|0.93603	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	21|197;197	B4DI29|B2R848;Q13569	.|.;TDG_HUMAN	C|M	21|197;193;54;190	ENSP00000439054:R21C|ENSP00000376611:T197M;ENSP00000266775:T193M;ENSP00000445899:T54M;ENSP00000439825:T190M	ENSP00000439054:R21C|ENSP00000266775:T193M	R|T	+|+	1|2	0|0	TDG|TDG	102900818|102900818	1.000000|1.000000	0.71417|0.71417	0.620000|0.620000	0.29132|0.29132	0.621000|0.621000	0.37620|0.37620	7.762000|7.762000	0.85270|0.85270	2.518000|2.518000	0.84900|0.84900	0.563000|0.563000	0.77884|0.77884	CGC|ACG		0.463	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			63	118	0	0	0	1	0	63	118				
ELN	2006	broad.mit.edu	37	7	73471784	73471784	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:73471784C>T	ENST00000358929.4	+	22	1521	c.1430C>T	c.(1429-1431)aCg>aTg	p.T477M	ELN_ENST00000380553.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000429192.1_Intron|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Intron|ELN_ENST00000445912.1_Intron	NM_001278939.1	NP_001265868.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GTGCCGGGCACGGGAGGAGTG	0.617			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000358929.4				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1429-1431)aCg>aTg		elastin	Rofecoxib(DB00533)						19.0	18.0	19.0					7																	73471784		876	1990	2866	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73471784C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000358929.4:c.1430C>T	7.37:g.73471784C>T	ENSP00000351807:p.Thr477Met					ELN_ENST00000357036.5_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000414324.1_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000380584.4_Intron	p.T477M			P15502	ELN_HUMAN			22	1521	+		Lung NSC(55;0.159)	477			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000358929.4	37	c.1430C>T		.	.	.	.	.	.	.	.	.	.	c	8.161	0.789527	0.16258	.	.	ENSG00000049540	ENST00000358929	T	0.32023	1.47	3.81	-6.87	0.01671	.	.	.	.	.	T	0.22820	0.0551	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38178	-0.9673	6	0.41790	T	0.15	.	7.3325	0.26590	0.1268:0.2418:0.0:0.6313	.	.	.	.	M	477	ENSP00000351807:T477M	ENSP00000351807:T477M	T	+	2	0	ELN	73109720	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.888000	0.04148	-1.303000	0.02332	-0.735000	0.03563	ACG		0.617	ELN-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_000501		10	31	0	0	0	1	0	10	31				
PRDM15	63977	broad.mit.edu	37	21	43230535	43230535	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:43230535C>T	ENST00000269844.3	-	28	3835	c.3725G>A	c.(3724-3726)cGa>cAa	p.R1242Q	PRDM15_ENST00000538201.1_Missense_Mutation_p.R896Q|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Missense_Mutation_p.R876Q|PRDM15_ENST00000422911.1_Missense_Mutation_p.R933Q|PRDM15_ENST00000398548.1_Missense_Mutation_p.R913Q	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCGCATGTGTCGGCTCATGGA	0.682																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(2797-2799)cGa>cAa		PR domain containing 15							57.0	45.0	49.0					21																	43230535		2202	4300	6502	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43230535C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3725G>A	21.37:g.43230535C>T	ENSP00000269844:p.Arg1242Gln					PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Missense_Mutation_p.R876Q|PRDM15_ENST00000398548.1_Missense_Mutation_p.R913Q|PRDM15_ENST00000538201.1_Missense_Mutation_p.R896Q|PRDM15_ENST00000269844.3_Missense_Mutation_p.R1242Q	p.R933Q			P57071	PRD15_HUMAN			22	2899	-			1242					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2798G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.158719	0.78226	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.09350	4.64;4.64;4.64;4.64;2.99	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.18676	0.0448	N	0.24115	0.695	0.49389	D	0.999787	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.997;0.994;0.998	T	0.10870	-1.0611	9	0.21540	T	0.41	-12.6908	15.3339	0.74234	0.0:1.0:0.0:0.0	.	1242;933;913	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Q	933;913;896;876;1242	ENSP00000408592:R933Q;ENSP00000381556:R913Q;ENSP00000444044:R896Q;ENSP00000390245:R876Q;ENSP00000269844:R1242Q	ENSP00000269844:R1242Q	R	-	2	0	PRDM15	42103604	1.000000	0.71417	0.995000	0.50966	0.413000	0.31143	7.499000	0.81566	1.836000	0.53414	0.306000	0.20318	CGA		0.682	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		29	27	0	0	0	1	0	29	27				
CTC-260E6.6	0	broad.mit.edu	37	19	20368562	20368562	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:20368562G>A	ENST00000593655.1	-	0	199																											GGTGGTGTGCGACAATGACAC	0.552																																						ENST00000593655.1																			0																																																			0							g.chr19:20368562G>A																													19.37:g.20368562G>A														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.552	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			27	29	0	0	0	1	0	27	29				
OTOF	9381	broad.mit.edu	37	2	26700618	26700618	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26700618C>T	ENST00000272371.2	-	19	2341		c.e19-1		OTOF_ENST00000339598.3_Splice_Site|OTOF_ENST00000403946.3_Splice_Site|OTOF_ENST00000338581.6_Splice_Site|OTOF_ENST00000402415.3_Silent_p.Q48Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTTCTTCCTGTGAATCAG	0.607																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.e19-1		otoferlin							60.0	44.0	49.0					2																	26700618		2195	4292	6487	SO:0001630	splice_region_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26700618C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2215-1G>A	2.37:g.26700618C>T						OTOF_ENST00000403946.3_Splice_Site|OTOF_ENST00000339598.3_Splice_Site|OTOF_ENST00000338581.6_Splice_Site|OTOF_ENST00000402415.3_Silent_p.Q48Q		NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			19	2341	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Splice_Site	SNP	ENST00000272371.2	37		CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726107	0.69074	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	.	.	.	4.83	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3589	0.66757	0.0:0.8504:0.1496:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OTOF	26554122	1.000000	0.71417	0.985000	0.45067	0.926000	0.56050	5.913000	0.69957	0.973000	0.38340	0.561000	0.74099	.		0.607	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		Intron	23	42	0	0	0	1	0	23	42				
DIP2A	23181	broad.mit.edu	37	21	47916995	47916995	+	Silent	SNP	G	G	A	rs181610004	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47916995G>A	ENST00000417564.2	+	4	399	c.378G>A	c.(376-378)tcG>tcA	p.S126S	DIP2A_ENST00000427143.2_Silent_p.S62S|DIP2A_ENST00000466639.1_Silent_p.S126S|DIP2A_ENST00000457905.3_Silent_p.S126S|DIP2A_ENST00000318711.7_Silent_p.S126S|DIP2A_ENST00000435722.3_Silent_p.S126S|DIP2A_ENST00000400274.1_Silent_p.S126S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	126					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TTGTGCATTCGTCTGTGGAAA	0.453													G|||	2	0.000399361	0.0	0.0	5008	,	,		15536	0.0		0.002	False		,,,				2504	0.0					ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(376-378)tcG>tcA		DIP2 disco-interacting protein 2 homolog A (Drosophila)		G	,,,,,,	0,3942		0,0,1971	141.0	131.0	134.0		186,378,378,378,378,378,378	-11.0	0.0	21		134	8,8288		0,8,4140	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIP2A	NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2	,,,,,,	0,8,6111	AA,AG,GG		0.0964,0.0,0.0654	,,,,,,	62/1111,126/799,126/1568,126/1572,126/890,126/842,126/813	47916995	8,12230	1971	4148	6119	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47916995G>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.378G>A	21.37:g.47916995G>A						DIP2A_ENST00000427143.2_Silent_p.S62S|DIP2A_ENST00000435722.3_Silent_p.S126S|DIP2A_ENST00000457905.3_Silent_p.S126S|DIP2A_ENST00000417564.2_Silent_p.S126S|DIP2A_ENST00000466639.1_Silent_p.S126S|DIP2A_ENST00000400274.1_Silent_p.S126S	p.S126S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	4	561	+	Breast(49;0.0933)		126					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.378G>A	CCDS46655.1																																																																																				0.453	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		17	18	0	0	0	1	0	17	18				
MGAM	8972	broad.mit.edu	37	7	141724872	141724872	+	Missense_Mutation	SNP	C	C	T	rs201997667	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:141724872C>T	ENST00000549489.2	+	8	1000	c.905C>T	c.(904-906)gCg>gTg	p.A302V	MGAM_ENST00000475668.2_Missense_Mutation_p.A302V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	302	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGTATGGTGCGCAGACATTC	0.398													C|||	4	0.000798722	0.0	0.0	5008	,	,		19777	0.004		0.0	False		,,,				2504	0.0					ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(904-906)gCg>gTg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	C	VAL/ALA	0,3754		0,0,1877	154.0	145.0	148.0		905	2.1	0.1	7		148	4,8234		0,4,4115	yes	missense	MGAM	NM_004668.2	64	0,4,5992	TT,TC,CC		0.0486,0.0,0.0334	benign	302/1858	141724872	4,11988	1877	4119	5996	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141724872C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.905C>T	7.37:g.141724872C>T	ENSP00000447378:p.Ala302Val					MGAM_ENST00000549489.2_Missense_Mutation_p.A302V	p.A302V			O43451	MGA_HUMAN			8	959	+	Melanoma(164;0.0272)		302			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.905C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	8.638	0.895291	0.17613	0.0	4.86E-4	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.85702	-2.02	5.01	2.1	0.27182	Glycoside hydrolase-type carbohydrate-binding (1);	0.780556	0.11251	N	0.583645	T	0.61388	0.2343	N	0.10629	0.01	0.09310	N	1	B	0.32160	0.358	B	0.12156	0.007	T	0.52434	-0.8576	10	0.02654	T	1	.	7.5027	0.27526	0.0:0.6928:0.0:0.3072	.	302	O43451	MGA_HUMAN	V	302;302;179	ENSP00000447378:A302V	ENSP00000316431:A179V	A	+	2	0	MGAM	141371341	0.000000	0.05858	0.114000	0.21550	0.820000	0.46376	0.125000	0.15749	0.242000	0.21303	0.655000	0.94253	GCG		0.398	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			19	44	0	0	0	1	0	19	44				
CEP83	51134	broad.mit.edu	37	12	94769688	94769688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:94769688G>A	ENST00000397809.5	-	8	1456	c.907C>T	c.(907-909)Cga>Tga	p.R303*	CCDC41_ENST00000547575.1_Nonsense_Mutation_p.R303*|CCDC41_ENST00000397807.2_Nonsense_Mutation_p.R270*|CCDC41_ENST00000339839.5_Nonsense_Mutation_p.R303*|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		295					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTTATTTCTCGTTCAGCTTTA	0.259																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(907-909)Cga>Tga		coiled-coil domain containing 41							75.0	71.0	72.0					12																	94769688		1797	4059	5856	SO:0001587	stop_gained	51134							g.chr12:94769688G>A																												ENST00000397809.5:c.907C>T	12.37:g.94769688G>A	ENSP00000380911:p.Arg303*					CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Nonsense_Mutation_p.R270*|CCDC41_ENST00000547575.1_Nonsense_Mutation_p.R303*|CCDC41_ENST00000339839.5_Nonsense_Mutation_p.R303*	p.R303*	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			8	1456	-			295					A4FVB1|Q08AP1	Nonsense_Mutation	SNP	ENST00000397809.5	37	c.907C>T	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	G	38	6.793574	0.97841	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	.	.	.	5.42	-0.268	0.12934	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1391	11.8913	0.52630	0.0:0.1109:0.3191:0.5699	.	.	.	.	X	303;303;270;303	.	ENSP00000344655:R303X	R	-	1	2	CCDC41	93293819	0.998000	0.40836	0.994000	0.49952	0.153000	0.21895	0.569000	0.23638	-0.033000	0.13736	-0.538000	0.04264	CGA		0.259	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			5	18	0	0	0	1	0	5	18				
CDK5RAP2	55755	broad.mit.edu	37	9	123253597	123253597	+	Silent	SNP	G	G	A	rs375317489		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123253597G>A	ENST00000349780.4	-	13	1649	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D	CDK5RAP2_ENST00000359309.3_Silent_p.D490D|CDK5RAP2_ENST00000360190.4_Silent_p.D490D|CDK5RAP2_ENST00000360822.3_Silent_p.D490D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	490					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GAAGCAACACGTCCTTCTGAT	0.294																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(1468-1470)gaC>gaT		CDK5 regulatory subunit associated protein 2		G	,	0,4406		0,0,2203	208.0	185.0	193.0		1470,1470	2.5	0.7	9		193	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDK5RAP2	NM_001011649.1,NM_018249.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	490/1815,490/1894	123253597	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123253597G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1470C>T	9.37:g.123253597G>A						CDK5RAP2_ENST00000360190.4_Silent_p.D490D|CDK5RAP2_ENST00000359309.3_Silent_p.D490D|CDK5RAP2_ENST00000360822.3_Silent_p.D490D	p.D490D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			13	1649	-			490					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	c.1470C>T	CCDS6823.1																																																																																				0.294	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		17	30	0	0	0	1	0	17	30				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	30	0	0	0	1	0	3	30				
APRT	353	broad.mit.edu	37	16	88873762	88873762	+	IGR	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88873762G>A	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Missense_Mutation_p.R450H	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CGGCTGCAGCGCTTAGAACGG	0.657																																						ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1348-1350)cGc>cAc		chromatin licensing and DNA replication factor 1							25.0	28.0	27.0					16																	88873762		2191	4287	6478	SO:0001628	intergenic_variant	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88873762G>A		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88873762G>A							p.R450H	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	9	1968	+			450					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.1349G>A	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154996	0.38021	.	.	ENSG00000167513	ENST00000301019	T	0.78595	-1.19	5.48	-0.491	0.12045	.	0.285757	0.35677	N	0.003059	T	0.74152	0.3679	M	0.72118	2.19	0.09310	N	1	D	0.59357	0.985	P	0.51016	0.656	T	0.63686	-0.6581	10	0.34782	T	0.22	.	1.9783	0.03421	0.2173:0.086:0.3626:0.334	.	450	Q9H211	CDT1_HUMAN	H	450	ENSP00000301019:R450H	ENSP00000301019:R450H	R	+	2	0	CDT1	87401263	1.000000	0.71417	0.006000	0.13384	0.003000	0.03518	2.218000	0.42889	0.033000	0.15463	-0.251000	0.11542	CGC		0.657	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		34	41	0	0	0	1	0	34	41				
CNTRL	11064	broad.mit.edu	37	9	123858806	123858806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123858806C>T	ENST00000373855.1	+	6	846	c.586C>T	c.(586-588)Cga>Tga	p.R196*	CNTRL_ENST00000373865.2_Nonsense_Mutation_p.R196*|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.R196*			Q7Z7A1	CNTRL_HUMAN	centriolin	196					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAAATCTTTGCGAGTCCTCAA	0.303																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(586-588)Cga>Tga		centriolin							104.0	110.0	108.0					9																	123858806		2203	4299	6502	SO:0001587	stop_gained	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123858806C>T	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.586C>T	9.37:g.123858806C>T	ENSP00000362962:p.Arg196*					CNTRL_ENST00000373865.2_Nonsense_Mutation_p.R196*|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.R196*	p.R196*			Q7Z7A1	CNTRL_HUMAN			6	846	+			196					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Nonsense_Mutation	SNP	ENST00000373855.1	37	c.586C>T	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	36	5.813214	0.96975	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	.	.	.	5.96	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3022	0.43659	0.4797:0.453:0.0:0.0674	.	.	.	.	X	196	.	ENSP00000238341:R196X	R	+	1	2	CNTRL	122898627	0.311000	0.24536	0.022000	0.16811	0.808000	0.45660	0.614000	0.24314	0.285000	0.22329	0.655000	0.94253	CGA		0.303	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		40	64	0	0	0	1	0	40	64				
ZNF844	284391	broad.mit.edu	37	19	12186611	12186611	+	Missense_Mutation	SNP	A	A	G	rs7259684	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12186611A>G	ENST00000439326.3	+	4	851	c.676A>G	c.(676-678)Aaa>Gaa	p.K226E	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	226			K -> E (in dbSNP:rs7259684).		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(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAAACCATATAAATGTAAACA	0.373													.|||	825	0.164736	0.413	0.0663	5008	,	,		21878	0.0665		0.0825	False		,,,				2504	0.0849					ENST00000439326.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(676-678)Aaa>Gaa		zinc finger protein 844		G	GLU/LYS	492,892		95,302,295	40.0	37.0	38.0		676	-1.7	0.0	19	dbSNP_116	38	236,2946		6,224,1361	no	missense	ZNF844	NM_001136501.1	56	101,526,1656	GG,GA,AA		7.4167,35.5491,15.9439	benign	226/667	12186611	728,3838	692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12186611A>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.676A>G	19.37:g.12186611A>G	ENSP00000392024:p.Lys226Glu					ZNF844_ENST00000441304.2_3'UTR	p.K226E	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	851	+			226		K -> E (in dbSNP:rs7259684).			Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.676A>G	CCDS45985.1	323	0.1478937728937729	190	0.3861788617886179	27	0.07458563535911603	40	0.06993006993006994	66	0.0870712401055409	a	0.261	-0.999373	0.02128	0.355491	0.074167	ENSG00000223547	ENST00000439326;ENST00000541708;ENST00000535505;ENST00000550826	T;T	0.16196	3.1;2.36	2.31	-1.72	0.08107	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44452	-0.9327	8	0.02654	T	1	.	8.289	0.31946	0.5789:0.0:0.4211:0.0	rs7259684;rs7259684	226	Q08AG5	ZN844_HUMAN	E	226;226;201;69	ENSP00000392024:K226E;ENSP00000448588:K69E	ENSP00000392024:K226E	K	+	1	0	ZNF844	12047611	0.000000	0.05858	0.002000	0.10522	0.421000	0.31385	-5.762000	0.00100	-1.016000	0.03371	-0.971000	0.02607	AAA		0.373	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	24	0	0	0	1	0	3	24				
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TGATTTTCTTCGCACTGATCC	0.408																																						ENST00000400153.2																			0																																																			0							g.chr15:23191911C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23191911C>T								NR_003521.1						0	1785	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.408	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		5	71	0	0	0	1	0	5	71				
PCSK5	5125	broad.mit.edu	37	9	78943040	78943040	+	Silent	SNP	C	C	T	rs531512702	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:78943040C>T	ENST00000545128.1	+	32	4912	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1458	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.S1458S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTCACCCTCCGAGTACTGGG	0.592													C|||	3	0.000599042	0.0	0.0	5008	,	,		18406	0.0		0.003	False		,,,				2504	0.0					ENST00000545128.1																			1	Substitution - coding silent(1)	p.S1458S(1)	lung(1)	NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(4372-4374)tcC>tcT		proprotein convertase subtilisin/kexin type 5							309.0	271.0	283.0					9																	78943040		876	1991	2867	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78943040C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4374C>T	9.37:g.78943040C>T							p.S1458S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			32	4912	+			676					F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.4374C>T	CCDS55320.1																																																																																				0.592	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	372	0	0	0	1	0	13	372				
STK25	10494	broad.mit.edu	37	2	242437037	242437037	+	Silent	SNP	G	G	A	rs377756155		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242437037G>A	ENST00000316586.4	-	10	1447	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	STK25_ENST00000543554.1_Silent_p.F272F|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405883.3_Silent_p.F289F|STK25_ENST00000535007.1_Silent_p.F272F|STK25_ENST00000401869.1_Silent_p.F366F|STK25_ENST00000405585.1_Silent_p.F289F|STK25_ENST00000403346.3_Silent_p.F366F	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	366					establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TCACCTCTCCGAAGACGGGCC	0.657																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(1096-1098)ttC>ttT		serine/threonine kinase 25		G		0,4406		0,0,2203	68.0	70.0	69.0		1098	-4.0	1.0	2		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	STK25	NM_006374.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		366/427	242437037	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242437037G>A	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.1098C>T	2.37:g.242437037G>A						STK25_ENST00000405883.3_Silent_p.F289F|STK25_ENST00000405585.1_Silent_p.F289F|STK25_ENST00000401869.1_Silent_p.F366F|STK25_ENST00000403346.3_Silent_p.F366F|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000535007.1_Silent_p.F272F|STK25_ENST00000543554.1_Silent_p.F272F	p.F366F	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	10	1447	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	366					A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Silent	SNP	ENST00000316586.4	37	c.1098C>T	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825050	0.50739	0.0	1.16E-4	ENSG00000115694	ENST00000423004	.	.	.	5.17	-3.97	0.04094	.	.	.	.	.	T	0.62429	0.2427	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62435	-0.6855	4	.	.	.	.	13.4868	0.61371	0.4239:0.0:0.5761:0.0	.	.	.	.	W	210	.	.	R	-	1	2	STK25	242085710	0.775000	0.28604	0.984000	0.44739	0.853000	0.48598	-0.057000	0.11768	-0.598000	0.05806	-0.345000	0.07892	CGG		0.657	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		101	103	0	0	0	1	0	101	103				
HEPH	9843	broad.mit.edu	37	X	65427138	65427138	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:65427138G>A	ENST00000343002.2	+	13	3057	c.2393G>A	c.(2392-2394)cGg>cAg	p.R798Q	HEPH_ENST00000374727.3_Missense_Mutation_p.R801Q|HEPH_ENST00000519389.1_Missense_Mutation_p.R852Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R609Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R531Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R801Q			Q9BQS7	HEPH_HUMAN	hephaestin	798	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATCCCTCGGCCAAGGACT	0.478																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2554-2556)cGg>cAg		hephaestin							105.0	87.0	93.0					X																	65427138		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65427138G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2393G>A	X.37:g.65427138G>A	ENSP00000343939:p.Arg798Gln					HEPH_ENST00000336279.5_Missense_Mutation_p.R531Q|HEPH_ENST00000343002.2_Missense_Mutation_p.R798Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R609Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R801Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R801Q	p.R852Q			Q9BQS7	HEPH_HUMAN			14	2734	+			798			Plastocyanin-like 5.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2555G>A		.	.	.	.	.	.	.	.	.	.	G	11.26	1.585313	0.28268	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25;-5.25;-5.25	4.85	-3.47	0.04753	Cupredoxin (2);	0.527347	0.18996	N	0.125498	D	0.92293	0.7555	N	0.10916	0.065	0.09310	N	1	B;B;P;B	0.36495	0.017;0.008;0.556;0.029	B;B;B;B	0.28465	0.007;0.004;0.09;0.004	D	0.87997	0.2753	10	0.35671	T	0.21	.	8.8732	0.35330	0.6789:0.0:0.2:0.1212	.	852;198;609;798	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	Q	852;801;531;801;609;798;755	ENSP00000430620:R852Q;ENSP00000363859:R801Q;ENSP00000337418:R531Q;ENSP00000411687:R801Q;ENSP00000413211:R609Q;ENSP00000343939:R798Q;ENSP00000398078:R755Q	ENSP00000337418:R531Q	R	+	2	0	HEPH	65343863	0.000000	0.05858	0.003000	0.11579	0.910000	0.53928	-0.117000	0.10708	-1.444000	0.01950	-0.498000	0.04607	CGG		0.478	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		5	18	0	0	0	1	0	5	18				
SLAMF8	56833	broad.mit.edu	37	1	159802792	159802792	+	Missense_Mutation	SNP	G	G	A	rs267598116		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:159802792G>A	ENST00000289707.5	+	3	643	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	SLAMF8_ENST00000368104.4_Missense_Mutation_p.R56Q|SLAMF8_ENST00000471286.1_3'UTR|C1orf204_ENST00000491974.1_5'Flank	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	165	Ig-like C2-type.				cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TATAGCTGGCGACGGGAGACA	0.542																																						ENST00000289707.5																			0				endometrium(2)|large_intestine(4)|lung(6)	12						c.(493-495)cGa>cAa		SLAM family member 8		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	105.0	107.0		494	2.2	1.0	1		107	0,8600		0,0,4300	no	missense	SLAMF8	NM_020125.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	165/286	159802792	1,13005	2203	4300	6503	SO:0001583	missense	56833					integral to membrane		g.chr1:159802792G>A	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.494G>A	1.37:g.159802792G>A	ENSP00000289707:p.Arg165Gln					SLAMF8_ENST00000368104.4_Missense_Mutation_p.R56Q|SLAMF8_ENST00000471286.1_3'UTR	p.R165Q	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN			3	643	+	all_hematologic(112;0.0597)		165			Ig-like C2-type.		Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	37	c.494G>A	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103279	0.20632	2.27E-4	0.0	ENSG00000158714	ENST00000289707;ENST00000368104	T;T	0.37915	4.1;1.17	4.6	2.25	0.28309	Immunoglobulin-like (1);	0.908506	0.09387	N	0.809089	T	0.08980	0.0222	L	0.36672	1.1	0.29000	N	0.887554	B	0.24882	0.113	B	0.17722	0.019	T	0.34428	-0.9829	10	0.13853	T	0.58	-2.4824	6.3651	0.21451	0.2314:0.0:0.7686:0.0	.	165	Q9P0V8	SLAF8_HUMAN	Q	165;56	ENSP00000289707:R165Q;ENSP00000357084:R56Q	ENSP00000289707:R165Q	R	+	2	0	SLAMF8	158069416	0.139000	0.22563	0.980000	0.43619	0.419000	0.31324	0.151000	0.16283	0.553000	0.29044	0.650000	0.86243	CGA		0.542	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		26	143	0	0	0	1	0	26	143				
ADIPOR1	51094	broad.mit.edu	37	1	202914187	202914187	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:202914187C>T	ENST00000340990.5	-	5	839	c.541G>A	c.(541-543)Gtg>Atg	p.V181M	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V181M|ADIPOR1_ENST00000367254.3_Intron	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	181					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGCAGAGCACTGCACCCAAA	0.448																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(541-543)Gtg>Atg		adiponectin receptor 1							107.0	112.0	110.0					1																	202914187		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202914187C>T		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.541G>A	1.37:g.202914187C>T	ENSP00000341785:p.Val181Met					ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V181M	p.V181M	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		5	839	-			181					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.541G>A	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188061	0.57909	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000426229	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.24661	0.0598	N	0.21617	0.685	0.80722	D	1	B	0.22480	0.07	B	0.32342	0.144	T	0.06391	-1.0829	10	0.20519	T	0.43	.	14.3901	0.66973	0.0:0.9292:0.0:0.0708	.	181	Q96A54	ADR1_HUMAN	M	181	ENSP00000341785:V181M;ENSP00000395469:V181M;ENSP00000402178:V181M;ENSP00000392946:V181M	ENSP00000341785:V181M	V	-	1	0	ADIPOR1	201180810	1.000000	0.71417	0.939000	0.37840	0.997000	0.91878	4.978000	0.63799	1.636000	0.50526	0.655000	0.94253	GTG		0.448	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		52	77	0	0	0	1	0	52	77				
APOL5	80831	broad.mit.edu	37	22	36122590	36122590	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:36122590G>A	ENST00000249044.2	+	3	475	c.475G>A	c.(475-477)Gca>Aca	p.A159T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	159					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TTTGGCCCTAGCACCTGTGAC	0.547																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(475-477)Gca>Aca		apolipoprotein L, 5							66.0	67.0	67.0					22																	36122590		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122590G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.475G>A	22.37:g.36122590G>A	ENSP00000249044:p.Ala159Thr						p.A159T	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			3	475	+			159					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.475G>A	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974547	0.53720	.	.	ENSG00000128313	ENST00000249044	T	0.10005	2.92	3.91	2.88	0.33553	.	0.797068	0.10859	U	0.626299	T	0.12603	0.0306	L	0.56769	1.78	0.09310	N	1	P	0.36909	0.573	B	0.37480	0.251	T	0.21861	-1.0233	10	0.62326	D	0.03	.	6.237	0.20768	0.2391:0.0:0.7609:0.0	.	159	Q9BWW9	APOL5_HUMAN	T	159	ENSP00000249044:A159T	ENSP00000249044:A159T	A	+	1	0	APOL5	34452536	0.005000	0.15991	0.002000	0.10522	0.122000	0.20287	0.827000	0.27421	0.632000	0.30432	0.655000	0.94253	GCA		0.547	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		7	177	0	0	0	1	0	7	177				
RIMBP2	23504	broad.mit.edu	37	12	130927121	130927121	+	Missense_Mutation	SNP	G	G	A	rs147881182	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130927121G>A	ENST00000261655.4	-	8	888	c.725C>T	c.(724-726)aCg>aTg	p.T242M	RIMBP2_ENST00000535703.1_Missense_Mutation_p.T150M|RIMBP2_ENST00000536002.1_Missense_Mutation_p.T150M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	242					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTTCCCCAGCGTGCTTGCCAA	0.592																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(724-726)aCg>aTg		RIMS binding protein 2		G	MET/THR	0,4406		0,0,2203	151.0	147.0	148.0		725	3.5	0.0	12	dbSNP_134	148	2,8598	2.2+/-6.3	0,2,4298	no	missense	RIMBP2	NM_015347.4	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	242/1053	130927121	2,13004	2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130927121G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.725C>T	12.37:g.130927121G>A	ENSP00000261655:p.Thr242Met					RIMBP2_ENST00000536002.1_Missense_Mutation_p.T150M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T150M	p.T242M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	888	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	242					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.725C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733745	0.30684	0.0	2.33E-4	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.21191	2.02;2.85;2.85	4.42	3.52	0.40303	.	0.611371	0.18094	N	0.151888	T	0.27384	0.0672	M	0.68317	2.08	0.20074	N	0.999935	P;D	0.61080	0.742;0.989	P;P	0.47402	0.467;0.546	T	0.10590	-1.0623	10	0.51188	T	0.08	-11.8359	8.7052	0.34349	0.0846:0.1524:0.763:0.0	.	150;242	O15034-2;O15034	.;RIMB2_HUMAN	M	242;150;150;150	ENSP00000261655:T242M;ENSP00000440347:T150M;ENSP00000439159:T150M	ENSP00000261655:T242M	T	-	2	0	RIMBP2	129493074	0.261000	0.24063	0.008000	0.14137	0.305000	0.27757	1.406000	0.34646	0.835000	0.34877	0.561000	0.74099	ACG		0.592	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		30	118	0	0	0	1	0	30	118				
HTR5A	3361	broad.mit.edu	37	7	154862918	154862918	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:154862918C>T	ENST00000287907.2	+	1	885	c.309C>T	c.(307-309)tcC>tcT	p.S103S	HTR5A-AS1_ENST00000543018.1_Silent_p.P32P|HTR5A-AS1_ENST00000395731.2_Silent_p.P32P|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	103					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	ACGAGCTGTCCGGGCGCCGCT	0.677																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(307-309)tcC>tcT		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							49.0	40.0	43.0					7																	154862918		2203	4299	6502	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862918C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.309C>T	7.37:g.154862918C>T						AC093726.4_ENST00000395731.2_Silent_p.P32P|AC093726.4_ENST00000543018.1_Silent_p.P32P|AC093726.4_ENST00000493904.1_5'UTR	p.S103S	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	885	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	103					Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.309C>T	CCDS5936.1																																																																																				0.677	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		41	58	0	0	0	1	0	41	58				
FAM167A	83648	broad.mit.edu	37	8	11301958	11301958	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:11301958C>T	ENST00000528897.1	-	0	582				FAM167A_ENST00000284486.4_De_novo_Start_OutOfFrame|FAM167A_ENST00000531564.1_5'Flank|FAM167A_ENST00000534308.1_De_novo_Start_OutOfFrame			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A											breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TGCGAGGGCACGGGGGGCGCA	0.682																																						ENST00000284486.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9								family with sequence similarity 167, member A							33.0	39.0	37.0					8																	11301958		2187	4274	6461			83648							g.chr8:11301958C>T		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"""chromosome 8 open reading frame 13"""	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.-38G>A	8.37:g.11301958C>T						FAM167A_ENST00000534308.1_De_novo_Start_OutOfFrame|FAM167A_ENST00000528897.1_De_novo_Start_OutOfFrame		NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN			0	501	-								A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Translation_Start_Site	SNP	ENST00000528897.1	37		CCDS5981.1																																																																																				0.682	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1			24	84	0	0	0	1	0	24	84				
KHNYN	23351	broad.mit.edu	37	14	24901644	24901644	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24901644G>A	ENST00000251343.5	+	3	1316	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.A393T|KHNYN_ENST00000556842.1_Missense_Mutation_p.A393T|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	393							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCAGGGCATGGCACGGGGTCG	0.667											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(1177-1179)Gca>Aca		KH and NYN domain containing							20.0	23.0	22.0					14																	24901644		2196	4271	6467	SO:0001583	missense	23351							g.chr14:24901644G>A	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1177G>A	14.37:g.24901644G>A	ENSP00000251343:p.Ala393Thr		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_ENST00000556842.1_Missense_Mutation_p.A393T|KHNYN_ENST00000553935.1_Missense_Mutation_p.A393T	p.A393T			O15037	KHNYN_HUMAN			3	1316	+			393					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.1177G>A	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	4.255	0.046332	0.08243	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.25414	1.8;1.8;1.8	4.64	1.17	0.20885	.	0.523787	0.21356	N	0.075900	T	0.12860	0.0312	L	0.27053	0.805	0.20873	N	0.999836	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.18903	-1.0322	10	0.21540	T	0.41	.	3.4873	0.07625	0.1134:0.1595:0.5644:0.1627	.	434;393	D3DS77;O15037	.;KHNYN_HUMAN	T	393	ENSP00000251343:A393T;ENSP00000451106:A393T;ENSP00000450799:A393T	ENSP00000251343:A393T	A	+	1	0	KHNYN	23971484	0.003000	0.15002	0.621000	0.29145	0.102000	0.19082	0.392000	0.20801	0.523000	0.28482	0.462000	0.41574	GCA		0.667	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			11	51	0	0	0	1	0	11	51				
TRIM63	84676	broad.mit.edu	37	1	26387782	26387782	+	Missense_Mutation	SNP	C	C	T	rs139426966		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26387782C>T	ENST00000374272.3	-	3	514	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	126	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCATCTTCGTGCTCCTTG	0.582																																						ENST00000374272.3																			0				kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(376-378)Gaa>Aaa		tripartite motif containing 63, E3 ubiquitin protein ligase		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	145.0	108.0	120.0		376	5.3	1.0	1	dbSNP_134	120	0,8600		0,0,4300	no	missense	TRIM63	NM_032588.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	126/354	26387782	1,13005	2203	4300	6503	SO:0001583	missense	84676					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	g.chr1:26387782C>T	AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.376G>A	1.37:g.26387782C>T	ENSP00000363390:p.Glu126Lys					TRIM63_ENST00000483052.1_5'UTR	p.E126K	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	3	514	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	126			Interaction with TTN.		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	c.376G>A	CCDS273.1	.	.	.	.	.	.	.	.	.	.	C	36	5.786315	0.96937	2.27E-4	0.0	ENSG00000158022	ENST00000374272	T	0.42513	0.97	5.33	5.33	0.75918	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.044258	0.85682	D	0.000000	T	0.46288	0.1385	L	0.55481	1.735	0.80722	D	1	P	0.47302	0.893	B	0.43331	0.416	T	0.51419	-0.8708	10	0.72032	D	0.01	.	18.9836	0.92763	0.0:1.0:0.0:0.0	.	126	Q969Q1	TRI63_HUMAN	K	126	ENSP00000363390:E126K	ENSP00000363390:E126K	E	-	1	0	TRIM63	26260369	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	5.986000	0.70563	2.652000	0.90054	0.591000	0.81541	GAA		0.582	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		21	77	0	0	0	1	0	21	77				
ITIH5	80760	broad.mit.edu	37	10	7618615	7618615	+	Silent	SNP	G	G	A	rs181083224		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:7618615G>A	ENST00000256861.6	-	10	1857	c.1779C>T	c.(1777-1779)gaC>gaT	p.D593D	ITIH5_ENST00000397145.2_Silent_p.D593D|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.D593D|ITIH5_ENST00000298441.6_Silent_p.D379D|ITIH5_ENST00000446830.2_Silent_p.D375D	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	593					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCGGTTCATCGTCACTTTGCA	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18313	0.0		0.001	False		,,,				2504	0.0					ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1777-1779)gaC>gaT		inter-alpha-trypsin inhibitor heavy chain family, member 5							45.0	45.0	45.0					10																	7618615		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618615G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1779C>T	10.37:g.7618615G>A						ITIH5_ENST00000397146.2_Silent_p.D593D|ITIH5_ENST00000397145.2_Silent_p.D593D|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Silent_p.D379D|ITIH5_ENST00000446830.2_Silent_p.D375D	p.D593D	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1857	-			593					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.1779C>T																																																																																					0.647	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		4	82	0	0	0	1	0	4	82				
TMEM132D	121256	broad.mit.edu	37	12	129566505	129566505	+	Silent	SNP	G	G	A	rs200675006		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:129566505G>A	ENST00000422113.2	-	7	2048	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	TMEM132D_ENST00000389441.4_Silent_p.H112H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	574					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCACCATGGCGTGCTGGTACT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		15876	0.0		0.001	False		,,,				2504	0.0					ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1720-1722)caC>caT		transmembrane protein 132D							47.0	50.0	49.0					12																	129566505		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129566505G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1722C>T	12.37:g.129566505G>A						TMEM132D_ENST00000389441.4_Silent_p.H112H	p.H574H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2048	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	574					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1722C>T	CCDS9266.1																																																																																				0.657	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		46	79	0	0	0	1	0	46	79				
SEMA4D	10507	broad.mit.edu	37	9	91993634	91993634	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:91993634G>A	ENST00000450295.1	-	16	3350	c.2574C>T	c.(2572-2574)gaC>gaT	p.D858D	SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000438547.2_Silent_p.D858D|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.D858D|SEMA4D_ENST00000356444.2_Silent_p.D858D			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	858					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCATCTGCGTCTGAGTCAG	0.582																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(2572-2574)gaC>gaT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							89.0	69.0	76.0					9																	91993634		2203	4300	6503	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91993634G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.2574C>T	9.37:g.91993634G>A						SEMA4D_ENST00000422704.2_Silent_p.D858D|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.D858D|SEMA4D_ENST00000356444.2_Silent_p.D858D|SEMA4D_ENST00000420987.1_Intron	p.D858D			Q92854	SEM4D_HUMAN			16	3350	-			858					B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.2574C>T	CCDS6685.1																																																																																				0.582	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		30	42	0	0	0	1	0	30	42				
PELI3	246330	broad.mit.edu	37	11	66243521	66243521	+	Silent	SNP	C	C	A	rs139368303		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66243521C>A	ENST00000320740.7	+	8	1453	c.1293C>A	c.(1291-1293)gcC>gcA	p.A431A	CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000349459.6_Silent_p.A407A|CTD-3074O7.5_ENST00000527274.2_RNA|CTD-3074O7.5_ENST00000602951.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	431					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GCTACTGGGCCCAGACACCAC	0.672																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(1219-1221)gcC>gcA		pellino E3 ubiquitin protein ligase family member 3							20.0	19.0	19.0					11																	66243521		2186	4239	6425	SO:0001819	synonymous_variant	246330					cytosol	protein binding	g.chr11:66243521C>A	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1293C>A	11.37:g.66243521C>A						CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000320740.7_Silent_p.A431A	p.A407A	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN			7	1505	+			431					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	ENST00000320740.7	37	c.1221C>A	CCDS31615.1																																																																																				0.672	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		10	18	1	0	2.17888e-05	1	2.20124e-05	10	18				
REV1	51455	broad.mit.edu	37	2	100022891	100022891	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:100022891C>T	ENST00000258428.3	-	16	2738	c.2510G>A	c.(2509-2511)cGc>cAc	p.R837H	REV1_ENST00000393445.3_Missense_Mutation_p.R836H|RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	837					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACTGATGGGCGACTGGGACA	0.453								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2509-2511)cGc>cAc	Direct reversal of damage	REV1, polymerase (DNA directed)							115.0	111.0	113.0					2																	100022891		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100022891C>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2510G>A	2.37:g.100022891C>T	ENSP00000258428:p.Arg837His					REV1_ENST00000393445.3_Missense_Mutation_p.R836H|REV1_ENST00000465835.1_5'UTR	p.R837H	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			16	2738	-			837					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.2510G>A	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241806	0.22711	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.27256	1.68;1.68	5.88	-0.93	0.10441	.	0.766070	0.12832	N	0.435552	T	0.08447	0.0210	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.30679	-0.9970	10	0.35671	T	0.21	.	6.8714	0.24123	0.1176:0.3247:0.0:0.5576	.	837;836	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	H	836;837	ENSP00000377091:R836H;ENSP00000258428:R837H	ENSP00000258428:R837H	R	-	2	0	REV1	99389323	0.004000	0.15560	0.001000	0.08648	0.911000	0.54048	-0.886000	0.04157	-0.116000	0.11893	0.655000	0.94253	CGC		0.453	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		22	41	0	0	0	1	0	22	41				
RAB29	8934	broad.mit.edu	37	1	205740772	205740772	+	Missense_Mutation	SNP	C	C	T	rs377322888		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205740772C>T	ENST00000367139.3	-	4	509	c.206G>A	c.(205-207)cGc>cAc	p.R69H	RAB7L1_ENST00000446390.2_Missense_Mutation_p.R45H|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R69H|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000414729.1_Missense_Mutation_p.R69H|RAB7L1_ENST00000468887.1_Intron	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		69					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGAGGTGAAGCGCTCCTGCCC	0.517																																					Pancreas(25;658 872 27763 34889 38531)	ENST00000367139.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(205-207)cGc>cAc		RAB7, member RAS oncogene family-like 1		C	HIS/ARG,HIS/ARG,,HIS/ARG	0,4406		0,0,2203	111.0	101.0	104.0		206,134,,206	5.3	1.0	1		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-5,missense	RAB7L1	NM_001135662.1,NM_001135663.1,NM_001135664.1,NM_003929.2	29,29,,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,probably-damaging	69/204,45/180,,69/204	205740772	1,13005	2203	4300	6503	SO:0001583	missense	8934				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr1:205740772C>T																												ENST00000367139.3:c.206G>A	1.37:g.205740772C>T	ENSP00000356107:p.Arg69His					RAB7L1_ENST00000446390.2_Missense_Mutation_p.R45H|RAB7L1_ENST00000414729.1_Missense_Mutation_p.R69H|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R69H	p.R69H	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		4	509	-	Breast(84;0.0799)		69					B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	37	c.206G>A	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166743	0.78339	0.0	1.16E-4	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000446390;ENST00000414729	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.28	5.28	0.74379	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	M	0.92923	3.36	0.52099	D	0.999943	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.958	D	0.92868	0.6312	10	0.87932	D	0	-14.6585	16.679	0.85287	0.0:1.0:0.0:0.0	.	45;69	B4E1K3;O14966	.;RAB7L_HUMAN	H	69;69;45;69	ENSP00000356107:R69H;ENSP00000235932:R69H;ENSP00000389899:R45H;ENSP00000402910:R69H	ENSP00000235932:R69H	R	-	2	0	RAB7L1	204007395	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	5.561000	0.67339	2.452000	0.82932	0.313000	0.20887	CGC		0.517	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1			62	91	0	0	0	1	0	62	91				
DHX38	9785	broad.mit.edu	37	16	72133711	72133711	+	Silent	SNP	C	C	T	rs572107563		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72133711C>T	ENST00000268482.3	+	8	1550	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	347					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCGAGGACTACGTGAGGAGGC	0.577											OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		23397	0.0		0.0	False		,,,				2504	0.0				Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(1039-1041)taC>taT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							80.0	64.0	69.0					16																	72133711		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72133711C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1041C>T	16.37:g.72133711C>T			OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	DHX38_ENST00000536867.1_Intron	p.Y347Y	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			8	1550	+		Ovarian(137;0.125)	347					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.1041C>T	CCDS10907.1																																																																																				0.577	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		31	19	0	0	0	1	0	31	19				
CELSR2	1952	broad.mit.edu	37	1	109801232	109801232	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:109801232C>T	ENST00000271332.3	+	2	3550	c.3489C>T	c.(3487-3489)caC>caT	p.H1163H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1163					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACCGGACCACGTGGTGGTCT	0.716																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3487-3489)caC>caT		cadherin, EGF LAG seven-pass G-type receptor 2							22.0	22.0	22.0					1																	109801232		2198	4294	6492	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109801232C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3489C>T	1.37:g.109801232C>T							p.H1163H	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	2	3550	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1163					Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.3489C>T	CCDS796.1																																																																																				0.716	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		7	13	0	0	0	1	0	7	13				
DGKQ	1609	broad.mit.edu	37	4	960969	960969	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:960969G>A	ENST00000273814.3	-	9	1241	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	390					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCAGAGCCCGGATGACCCAG	0.711																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(1168-1170)Cgg>Tgg		diacylglycerol kinase, theta 110kDa							9.0	14.0	12.0					4																	960969		2095	4216	6311	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:960969G>A	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1168C>T	4.37:g.960969G>A	ENSP00000273814:p.Arg390Trp						p.R390W	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		9	1241	-			390					Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.1168C>T	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776377	0.70107	.	.	ENSG00000145214	ENST00000273814	D	0.83673	-1.75	5.02	3.09	0.35607	.	0.059775	0.64402	D	0.000008	T	0.81240	0.4781	N	0.14661	0.345	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.974	T	0.81858	-0.0739	10	0.72032	D	0.01	.	9.3876	0.38352	0.0:0.0:0.5958:0.4042	.	390;390	E9KL49;P52824	.;DGKQ_HUMAN	W	390	ENSP00000273814:R390W	ENSP00000273814:R390W	R	-	1	2	DGKQ	950969	0.119000	0.22226	0.790000	0.31976	0.670000	0.39368	0.370000	0.20433	1.039000	0.40074	0.650000	0.86243	CGG		0.711	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			3	19	0	0	0	1	0	3	19				
PIGB	9488	broad.mit.edu	37	15	55647590	55647590	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:55647590G>A	ENST00000164305.5	+	12	1916	c.1625G>A	c.(1624-1626)cGg>cAg	p.R542Q	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000310958.6_3'UTR|PIGB_ENST00000539642.1_Missense_Mutation_p.R347Q|CCPG1_ENST00000442196.3_3'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	542					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		GTCTATGAACGGAAGTTAAAA	0.358																																						ENST00000164305.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.(1624-1626)cGg>cAg		phosphatidylinositol glycan anchor biosynthesis, class B							96.0	95.0	95.0					15																	55647590		1816	4068	5884	SO:0001583	missense	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55647590G>A	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1625G>A	15.37:g.55647590G>A	ENSP00000164305:p.Arg542Gln					CCPG1_ENST00000442196.3_3'UTR|CCPG1_ENST00000310958.6_3'UTR|PIGB_ENST00000539642.1_Missense_Mutation_p.R347Q|DYX1C1-CCPG1_ENST00000565113.1_RNA	p.R542Q	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	12	1916	+			542					Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37	c.1625G>A		.	.	.	.	.	.	.	.	.	.	G	19.98	3.927547	0.73327	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	T;T	0.61040	0.44;0.14	6.08	4.22	0.49857	.	0.179629	0.48767	D	0.000167	T	0.70509	0.3232	M	0.71871	2.18	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.71024	-0.4712	10	0.51188	T	0.08	-10.8233	11.176	0.48598	0.204:0.0:0.796:0.0	.	542	Q92521	PIGB_HUMAN	Q	542;347	ENSP00000164305:R542Q;ENSP00000438963:R347Q	ENSP00000164305:R542Q	R	+	2	0	PIGB	53434882	1.000000	0.71417	0.349000	0.25694	0.942000	0.58702	2.328000	0.43867	0.909000	0.36697	0.591000	0.81541	CGG		0.358	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		11	98	0	0	0	1	0	11	98				
KIF27	55582	broad.mit.edu	37	9	86465050	86465050	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:86465050C>T	ENST00000297814.2	-	16	3663	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E1108K|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1077K|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1174					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATCTTTTGTTCGTGTTCCTTT	0.423																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(3520-3522)Gaa>Aaa		kinesin family member 27							203.0	177.0	186.0					9																	86465050		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86465050C>T	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3520G>A	9.37:g.86465050C>T	ENSP00000297814:p.Glu1174Lys					RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1077K|RP11-575L7.4_ENST00000590813.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E1108K	p.E1174K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			16	3663	-			1174					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3520G>A	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895235	0.91962	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.74632	-0.85;-0.86;-0.72	4.58	4.58	0.56647	.	0.000000	0.56097	D	0.000021	D	0.85557	0.5724	M	0.72353	2.195	0.51012	D	0.999906	D;D;P	0.89917	1.0;0.958;0.929	D;P;B	0.85130	0.997;0.45;0.203	D	0.87587	0.2488	10	0.87932	D	0	.	17.5592	0.87901	0.0:1.0:0.0:0.0	.	1077;1108;1174	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	K	1174;1108;1077	ENSP00000297814:E1174K;ENSP00000401688:E1108K;ENSP00000333928:E1077K	ENSP00000297814:E1174K	E	-	1	0	KIF27	85654870	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	6.826000	0.75298	2.369000	0.80426	0.436000	0.28706	GAA		0.423	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		38	161	0	0	0	1	0	38	161				
MARVELD2	153562	broad.mit.edu	37	5	68716104	68716104	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68716104G>A	ENST00000325631.5	+	2	966	c.892G>A	c.(892-894)Gtt>Att	p.V298I	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	298	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGGAATTAACGTTGCCTTGTT	0.423																																						ENST00000325631.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15						c.(892-894)Gtt>Att		MARVEL domain containing 2							167.0	159.0	162.0					5																	68716104		2203	4300	6503	SO:0001583	missense	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68716104G>A	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.892G>A	5.37:g.68716104G>A	ENSP00000323264:p.Val298Ile					MARVELD2_ENST00000413223.2_Intron	p.V298I	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	2	966	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	298			MARVEL.		A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	37	c.892G>A	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449408	0.26074	.	.	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000512803	T;T;T	0.58940	0.3;0.3;0.3	5.37	3.59	0.41128	Marvel (1);MARVEL-like domain (1);	0.210011	0.41938	N	0.000798	T	0.40222	0.1108	N	0.25144	0.715	0.80722	D	1	B;B;B	0.20052	0.041;0.017;0.011	B;B;B	0.15052	0.012;0.009;0.011	T	0.16837	-1.0389	10	0.42905	T	0.14	-44.2595	8.6506	0.34033	0.2391:0.0:0.7609:0.0	.	298;298;298	Q8N4S9-3;Q8N4S9-2;Q8N4S9	.;.;MALD2_HUMAN	I	298	ENSP00000323264:V298I;ENSP00000396244:V298I;ENSP00000423490:V298I	ENSP00000282886:V298I	V	+	1	0	MARVELD2	68751860	0.432000	0.25554	0.017000	0.16124	0.943000	0.58893	0.786000	0.26844	0.656000	0.30886	0.655000	0.94253	GTT		0.423	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		56	112	0	0	0	1	0	56	112				
GPR26	2849	broad.mit.edu	37	10	125426287	125426287	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125426287G>A	ENST00000284674.1	+	1	417	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	122					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGCCTCCGCGACGCGGCGCT	0.701																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(364-366)Gac>Aac		G protein-coupled receptor 26							10.0	11.0	10.0					10																	125426287		2181	4269	6450	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426287G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.364G>A	10.37:g.125426287G>A	ENSP00000284674:p.Asp122Asn						p.D122N	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	417	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	122					Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.364G>A	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724724	0.68959	.	.	ENSG00000154478	ENST00000284674	T	0.36157	1.27	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	L	0.48174	1.505	0.80722	D	1	P	0.45011	0.848	B	0.30105	0.111	T	0.22695	-1.0209	10	0.38643	T	0.18	-25.8253	16.5501	0.84470	0.0:0.0:1.0:0.0	.	122	Q8NDV2	GPR26_HUMAN	N	122	ENSP00000284674:D122N	ENSP00000284674:D122N	D	+	1	0	GPR26	125416277	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	9.508000	0.98000	2.125000	0.65367	0.655000	0.94253	GAC		0.701	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			8	16	0	0	0	1	0	8	16				
INPP5J	27124	broad.mit.edu	37	22	31522443	31522443	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:31522443C>T	ENST00000331075.5	+	3	1402	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	INPP5J_ENST00000405300.1_Silent_p.D84D|INPP5J_ENST00000412277.2_Silent_p.D384D|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000404390.3_Silent_p.D83D|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000400294.2_Silent_p.D84D	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	451	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCGGTGGTGACGACAGCGACG	0.657																																						ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(1351-1353)gaC>gaT		inositol polyphosphate-5-phosphatase J							132.0	140.0	137.0					22																	31522443		2169	4251	6420	SO:0001819	synonymous_variant	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31522443C>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1353C>T	22.37:g.31522443C>T						INPP5J_ENST00000404390.3_Silent_p.D83D|INPP5J_ENST00000412277.2_Silent_p.D384D|INPP5J_ENST00000400294.2_Silent_p.D84D|INPP5J_ENST00000405300.1_Silent_p.D84D	p.D451D			Q15735	PI5PA_HUMAN			3	1402	+			451			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Silent	SNP	ENST00000331075.5	37	c.1353C>T																																																																																					0.657	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		109	191	0	0	0	1	0	109	191				
MFNG	4242	broad.mit.edu	37	22	37882079	37882079	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37882079G>A	ENST00000356998.3	-	1	360	c.137C>T	c.(136-138)cCg>cTg	p.P46L	MFNG_ENST00000416983.3_Missense_Mutation_p.P46L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	46					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					AGGGGGCCCCGGGTTCGGCTG	0.632																																						ENST00000356998.3																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(136-138)cCg>cTg		MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							38.0	42.0	40.0					22																	37882079		2203	4300	6503	SO:0001583	missense	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37882079G>A	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.137C>T	22.37:g.37882079G>A	ENSP00000349490:p.Pro46Leu					MFNG_ENST00000416983.3_Missense_Mutation_p.P46L	p.P46L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN			1	360	-	Melanoma(58;0.0574)		46					B4DLT6|O43730|Q504S9	Missense_Mutation	SNP	ENST00000356998.3	37	c.137C>T	CCDS13947.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687315	0.29962	.	.	ENSG00000100060	ENST00000416983;ENST00000356998;ENST00000424765	T;T	0.55234	0.57;0.53	4.31	-2.5	0.06384	.	1.815870	0.02599	N	0.100870	T	0.38161	0.1030	L	0.38953	1.18	0.18873	N	0.999989	B;B	0.17268	0.004;0.021	B;B	0.09377	0.001;0.004	T	0.07121	-1.0789	10	0.24483	T	0.36	-2.4335	3.8522	0.08960	0.1503:0.3543:0.3836:0.1119	.	46;46	B4DLT6;O00587	.;MFNG_HUMAN	L	46	ENSP00000413855:P46L;ENSP00000349490:P46L	ENSP00000349490:P46L	P	-	2	0	MFNG	36212025	0.056000	0.20664	0.000000	0.03702	0.004000	0.04260	0.412000	0.21131	-0.263000	0.09378	-1.957000	0.00481	CCG		0.632	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		22	111	0	0	0	1	0	22	111				
HNRNPH1	3187	broad.mit.edu	37	5	179043155	179043155	+	Silent	SNP	G	G	A	rs115293737		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179043155G>A	ENST00000356731.5	-	11	2807	c.1272C>T	c.(1270-1272)taC>taT	p.Y424Y	HNRNPH1_ENST00000511300.2_Silent_p.Y134Y|HNRNPH1_ENST00000510411.1_Silent_p.Y404Y|HNRNPH1_ENST00000329433.6_Silent_p.Y424Y|HNRNPH1_ENST00000393432.4_Silent_p.Y424Y|HNRNPH1_ENST00000442819.2_Silent_p.Y424Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	424	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TCTGGCCACCGTAGCCGCCTC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		18646	0.001		0.0	False		,,,				2504	0.0					ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.(1270-1272)taC>taT		heterogeneous nuclear ribonucleoprotein H1 (H)							95.0	100.0	98.0					5																	179043155		2203	4300	6503	SO:0001819	synonymous_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179043155G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1272C>T	5.37:g.179043155G>A						HNRNPH1_ENST00000393432.4_Silent_p.Y424Y|HNRNPH1_ENST00000511300.2_Silent_p.Y134Y|HNRNPH1_ENST00000442819.2_Silent_p.Y424Y|HNRNPH1_ENST00000510411.1_Silent_p.Y404Y|HNRNPH1_ENST00000329433.6_Silent_p.Y424Y	p.Y424Y			P31943	HNRH1_HUMAN			11	2807	-			424			2 X 16 AA Gly-rich approximate repeats.		B3KW86|D3DWQ2|Q6IBM4	Silent	SNP	ENST00000356731.5	37	c.1272C>T	CCDS4446.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	a	0.223	-1.027336	0.02045	.	.	ENSG00000169045	ENST00000523449;ENST00000523136	.	.	.	4.98	-1.67	0.08238	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52320	-0.8591	4	.	.	.	-6.8867	10.3351	0.43846	0.6062:0.0:0.3938:0.0	.	.	.	.	W	92;44	.	.	R	-	1	2	HNRNPH1	178975761	1.000000	0.71417	0.993000	0.49108	0.254000	0.26022	0.765000	0.26546	-0.169000	0.10834	-1.058000	0.02302	CGG		0.473	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		38	229	0	0	0	1	0	38	229				
SPIB	6689	broad.mit.edu	37	19	50926144	50926144	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50926144G>A	ENST00000595883.1	+	4	214	c.189G>A	c.(187-189)ccG>ccA	p.P63P	SPIB_ENST00000596074.1_Intron|SPIB_ENST00000270632.7_Silent_p.P63P|SPIB_ENST00000439922.2_Intron|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.G198S|SPIB_ENST00000597855.1_Silent_p.P63P	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	63					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTTCGACCCGGCAGCAGCCG	0.662																																						ENST00000595883.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(187-189)ccG>ccA		Spi-B transcription factor (Spi-1/PU.1 related)							37.0	45.0	42.0					19																	50926144		2199	4289	6488	SO:0001819	synonymous_variant	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50926144G>A		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.189G>A	19.37:g.50926144G>A						SPIB_ENST00000439922.2_Intron|SPIB_ENST00000597855.1_Silent_p.P63P|SPIB_ENST00000270632.7_Silent_p.P63P|SPIB_ENST00000596074.1_Intron	p.P63P	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	4	214	+		all_neural(266;0.131)	63					A8K9C9|B4DUG6|Q15359	Silent	SNP	ENST00000595883.1	37	c.189G>A	CCDS33080.1																																																																																				0.662	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		50	136	0	0	0	1	0	50	136				
BBS1	582	broad.mit.edu	37	11	66297334	66297334	+	Missense_Mutation	SNP	C	C	T	rs577426256		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66297334C>T	ENST00000318312.7	+	14	1435	c.1384C>T	c.(1384-1386)Cgt>Tgt	p.R462C	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.R365C|BBS1_ENST00000393994.2_Missense_Mutation_p.R333C|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.R499C	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	462					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GCTGCGCCTACGTGCTGCCCG	0.677									Bardet-Biedl syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		16322	0.0		0.001	False		,,,				2504	0.0				GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1495-1497)Cgt>Tgt									87.0	59.0	68.0					11																	66297334		2200	4295	6495	SO:0001583	missense	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66297334C>T	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1384C>T	11.37:g.66297334C>T	ENSP00000317469:p.Arg462Cys					ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000318312.7_Missense_Mutation_p.R462C|BBS1_ENST00000455748.2_Missense_Mutation_p.R365C|BBS1_ENST00000393994.2_Missense_Mutation_p.R333C	p.R499C							14	1573	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.1495C>T	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820979	0.71028	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.96992	-4.12;-4.2;-4.01;-3.93	4.46	4.46	0.54185	.	.	.	.	.	D	0.96324	0.8801	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D	0.71674	0.992;0.998;0.998;0.992;0.992;0.99	P;P;D;P;P;P	0.64042	0.656;0.804;0.921;0.635;0.541;0.556	D	0.95744	0.8786	9	0.56958	D	0.05	.	10.2729	0.43493	0.1976:0.8024:0.0:0.0	.	137;365;333;350;462;499	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	C	499;462;365;333	ENSP00000398526:R499C;ENSP00000317469:R462C;ENSP00000405764:R365C;ENSP00000377563:R333C	ENSP00000317469:R462C	R	+	1	0	BBS1;CTD-3074O7.11	66053910	1.000000	0.71417	0.986000	0.45419	0.825000	0.46686	2.991000	0.49409	2.200000	0.70718	0.655000	0.94253	CGT		0.677	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			30	44	0	0	0	1	0	30	44				
SGSM2	9905	broad.mit.edu	37	17	2265510	2265510	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2265510C>T	ENST00000426855.2	+	4	579	c.404C>T	c.(403-405)gCg>gTg	p.A135V	SGSM2_ENST00000574563.1_Missense_Mutation_p.A135V|SGSM2_ENST00000268989.3_Missense_Mutation_p.A135V	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	135	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GTACGCACGGCGCTCATCGAG	0.637																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(403-405)gCg>gTg		small G protein signaling modulator 2							88.0	89.0	89.0					17																	2265510		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2265510C>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.404C>T	17.37:g.2265510C>T	ENSP00000415107:p.Ala135Val					SGSM2_ENST00000426855.2_Missense_Mutation_p.A135V|SGSM2_ENST00000574563.1_Missense_Mutation_p.A135V|SGSM2_ENST00000574650.1_3'UTR	p.A135V	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	4	581	+			135			RUN.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.404C>T	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965340	0.74131	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.43294	0.95;0.95	4.67	4.67	0.58626	RUN (3);	0.000000	0.85682	D	0.000000	T	0.66327	0.2778	M	0.85777	2.775	0.80722	D	1	D;D;P	0.71674	0.998;0.978;0.921	P;P;B	0.61874	0.895;0.855;0.215	T	0.74191	-0.3745	10	0.87932	D	0	-11.4296	16.9348	0.86200	0.0:1.0:0.0:0.0	.	135;135;135	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	V	135	ENSP00000268989:A135V;ENSP00000415107:A135V	ENSP00000268989:A135V	A	+	2	0	SGSM2	2212260	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	7.763000	0.85283	2.309000	0.77851	0.205000	0.17691	GCG		0.637	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		46	149	0	0	0	1	0	46	149				
PLEC	5339	broad.mit.edu	37	8	144999421	144999421	+	Missense_Mutation	SNP	C	C	T	rs371895113		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144999421C>T	ENST00000322810.4	-	31	5256	c.5087G>A	c.(5086-5088)cGa>cAa	p.R1696Q	PLEC_ENST00000398774.2_Missense_Mutation_p.R1527Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1545Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1559Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1537Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1582Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1563Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1559Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1586Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1696	Central fibrous rod domain.				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						CTGCCGCGCTCGCTCCACCTC	0.741																																						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.(5086-5088)cGa>cAa		plectin		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3312		0,0,1656	6.0	6.0	6.0		4757,4634,4610,5087,4580,4676,4688,4676	3.7	0.8	8		6	2,6902		0,2,3450	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	43,43,43,43,43,43,43,43	0,2,5106	TT,TC,CC		0.029,0.0,0.0196	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1586/4575,1545/4534,1537/4526,1696/4685,1527/4516,1559/4548,1563/4552,1559/4548	144999421	2,10214	1656	3452	5108	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144999421C>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.5087G>A	8.37:g.144999421C>T	ENSP00000323856:p.Arg1696Gln					PLEC_ENST00000354958.2_Missense_Mutation_p.R1537Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1582Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1527Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1545Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1559Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1559Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1586Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1563Q	p.R1696Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	5256	-			1696			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.5087G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627039	0.28978	0.0	2.9E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76578	-0.98;-0.98;-1.02;-1.03;-1.0;-0.99;-1.0;-0.98;-0.98	4.71	3.69	0.42338	.	0.099514	0.39083	U	0.001465	T	0.46541	0.1398	N	0.08118	0	0.30997	N	0.720798	P;P;P;P;P;P;P;P	0.43633	0.813;0.709;0.709;0.716;0.709;0.709;0.813;0.813	B;B;B;B;B;B;B;B	0.31495	0.131;0.131;0.131;0.062;0.131;0.131;0.131;0.131	T	0.51826	-0.8656	10	0.29301	T	0.29	.	3.311	0.07016	0.0:0.5804:0.0:0.4196	.	1586;1545;1537;1696;1527;1559;1563;1559	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1559;1563;1559;1527;1696;1537;1545;1586;1582	ENSP00000344848:R1559Q;ENSP00000350277:R1563Q;ENSP00000346602:R1559Q;ENSP00000381756:R1527Q;ENSP00000323856:R1696Q;ENSP00000347044:R1537Q;ENSP00000348702:R1545Q;ENSP00000388180:R1586Q;ENSP00000434583:R1582Q	ENSP00000323856:R1696Q	R	-	2	0	PLEC	145071409	0.939000	0.31865	0.808000	0.32385	0.052000	0.14988	2.001000	0.40825	2.166000	0.68216	0.542000	0.68232	CGA		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	15	0	0	0	1	0	4	15				
BSN	8927	broad.mit.edu	37	3	49699985	49699985	+	Silent	SNP	C	C	T	rs199525442		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:49699985C>T	ENST00000296452.4	+	6	10821	c.10707C>T	c.(10705-10707)tcC>tcT	p.S3569S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3569					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCGTGGTTTCCGACAGCGAAG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		16532	0.0		0.0	False		,,,				2504	0.001					ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(10705-10707)tcC>tcT		bassoon presynaptic cytomatrix protein							49.0	53.0	52.0					3																	49699985		2202	4294	6496	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49699985C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10707C>T	3.37:g.49699985C>T							p.S3569S	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	10821	+			3569					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.10707C>T	CCDS2800.1																																																																																				0.597	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		71	25	0	0	0	1	0	71	25				
PALM	5064	broad.mit.edu	37	19	746408	746408	+	Missense_Mutation	SNP	C	C	T	rs375298878		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:746408C>T	ENST00000338448.5	+	9	804	c.758C>T	c.(757-759)gCg>gTg	p.A253V	PALM_ENST00000264560.7_Missense_Mutation_p.A209V|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	253					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)|Lung(535;0.201)		ACGGCCGGGGCGGCAGAGACC	0.726																																						ENST00000264560.7																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(625-627)gCg>gTg		paralemmin		C	VAL/ALA,VAL/ALA	0,4396		0,0,2198	14.0	17.0	16.0		626,758	2.6	0.1	19		16	1,8587		0,1,4293	no	missense,missense	PALM	NM_001040134.1,NM_002579.2	64,64	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	209/344,253/388	746408	1,12983	2198	4294	6492	SO:0001583	missense	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746408C>T	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.758C>T	19.37:g.746408C>T	ENSP00000341911:p.Ala253Val					PALM_ENST00000338448.5_Missense_Mutation_p.A253V|PALM_ENST00000606643.1_3'UTR	p.A209V	NM_001040134.1	NP_001035224.1	O75781	PALM_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)|Lung(535;0.201)	8	820	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	253					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	c.626C>T	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356323	0.24598	0.0	1.16E-4	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.32023	1.94;1.47	4.71	2.58	0.30949	.	1.216660	0.05825	N	0.616542	T	0.28267	0.0698	L	0.60455	1.87	0.09310	N	1	P;P	0.50066	0.931;0.886	B;B	0.41412	0.331;0.356	T	0.17198	-1.0377	10	0.16896	T	0.51	-5.6107	5.126	0.14884	0.1654:0.6593:0.0:0.1753	.	209;253	O75781-2;O75781	.;PALM_HUMAN	V	253;209;118	ENSP00000341911:A253V;ENSP00000264560:A209V	ENSP00000264560:A209V	A	+	2	0	PALM	697408	0.001000	0.12720	0.090000	0.20809	0.297000	0.27493	0.633000	0.24598	0.979000	0.38497	-0.369000	0.07265	GCG		0.726	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		18	35	0	0	0	1	0	18	35				
PACRGL	133015	broad.mit.edu	37	4	20715162	20715162	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:20715162C>T	ENST00000503585.1	+	7	1000	c.609C>T	c.(607-609)agC>agT	p.S203S	PACRGL_ENST00000295290.8_Splice_Site_p.S203S|PACRGL_ENST00000502374.1_Splice_Site_p.S150S|PACRGL_ENST00000507634.1_Splice_Site_p.S203S|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000513459.1_Splice_Site_p.S150S|PACRGL_ENST00000444671.2_Splice_Site_p.S105S|PACRGL_ENST00000360916.5_Splice_Site_p.S203S|PACRGL_ENST00000538990.1_Splice_Site_p.S105S	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	203										endometrium(2)|lung(7)|prostate(1)	10						TGCTTACAAGCGTAAGTACTG	0.373																																						ENST00000360916.5																			0				endometrium(2)|lung(7)|prostate(1)	10						c.e7+1		PARK2 co-regulated-like							191.0	151.0	165.0					4																	20715162		2203	4300	6503	SO:0001630	splice_region_variant	133015						binding	g.chr4:20715162C>T	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.609+1C>T	4.37:g.20715162C>T						PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000444671.2_Splice_Site_p.S105_splice|PACRGL_ENST00000503585.1_Splice_Site_p.S203_splice|PACRGL_ENST00000513459.1_Splice_Site_p.S150_splice|PACRGL_ENST00000507634.1_Splice_Site_p.S203_splice|PACRGL_ENST00000295290.8_Splice_Site_p.S203_splice|PACRGL_ENST00000538990.1_Splice_Site_p.S105_splice|PACRGL_ENST00000502374.1_Splice_Site_p.S150_splice	p.S203_splice	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN			7	1000	+			230					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Splice_Site	SNP	ENST00000503585.1	37	c.609_splice	CCDS58895.1																																																																																				0.373	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048	Silent	34	53	0	0	0	1	0	34	53				
ERN1	2081	broad.mit.edu	37	17	62144066	62144066	+	Silent	SNP	C	C	T	rs183713088	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:62144066C>T	ENST00000433197.3	-	8	902	c.807G>A	c.(805-807)ccG>ccA	p.P269P	ERN1_ENST00000577567.1_5'Flank	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTGGGGAACGGGTACTTCC	0.592													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18721	0.0		0.0	False		,,,				2504	0.0					ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(805-807)ccG>ccA		endoplasmic reticulum to nucleus signaling 1		C		0,4176		0,0,2088	50.0	53.0	52.0		807	-11.1	0.0	17		52	1,8455		0,1,4227	no	coding-synonymous	ERN1	NM_001433.3		0,1,6315	TT,TC,CC		0.0118,0.0,0.0079		269/978	62144066	1,12631	2088	4228	6316	SO:0001819	synonymous_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62144066C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.807G>A	17.37:g.62144066C>T							p.P269P	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			8	902	-			269						Silent	SNP	ENST00000433197.3	37	c.807G>A	CCDS45762.1																																																																																				0.592	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		33	5	0	0	0	1	0	33	5				
PRCP	5547	broad.mit.edu	37	11	82550376	82550376	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82550376G>A	ENST00000313010.3	-	7	1207	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	PRCP_ENST00000393399.2_Missense_Mutation_p.S359L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000535099.1_Missense_Mutation_p.S233L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	338					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CACCTGGCCCGAATAATTGTA	0.403																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1012-1014)tCg>tTg		prolylcarboxypeptidase (angiotensinase C)							95.0	95.0	95.0					11																	82550376		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82550376G>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1013C>T	11.37:g.82550376G>A	ENSP00000317362:p.Ser338Leu					PRCP_ENST00000393399.2_Missense_Mutation_p.S359L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000535099.1_Missense_Mutation_p.S233L	p.S338L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN			7	1207	-			338					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.1013C>T	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427546	0.83667	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801	T;T;T;T	0.32988	2.56;2.56;2.56;1.43	5.48	5.48	0.80851	.	0.059077	0.64402	D	0.000004	T	0.54598	0.1868	M	0.85630	2.765	0.58432	D	0.999996	D;P	0.67145	0.996;0.911	P;P	0.54026	0.74;0.658	T	0.60737	-0.7204	9	.	.	.	-6.187	19.3474	0.94370	0.0:0.0:1.0:0.0	.	338;359	P42785;A8MU24	PCP_HUMAN;.	L	338;359;233;233	ENSP00000317362:S338L;ENSP00000377055:S359L;ENSP00000442077:S233L;ENSP00000432004:S233L	.	S	-	2	0	PRCP	82228024	1.000000	0.71417	0.999000	0.59377	0.300000	0.27592	8.979000	0.93455	2.584000	0.87258	0.561000	0.74099	TCG		0.403	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		27	103	0	0	0	1	0	27	103				
FAM120B	84498	broad.mit.edu	37	6	170626760	170626760	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:170626760G>T	ENST00000476287.1	+	2	390	c.282G>T	c.(280-282)gaG>gaT	p.E94D	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.E117D|FAM120B_ENST00000540480.1_Missense_Mutation_p.E106D	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	94					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GCATGGTGGAGCAGGATAAGA	0.443																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(280-282)gaG>gaT		family with sequence similarity 120B							88.0	87.0	87.0					6																	170626760		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170626760G>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.282G>T	6.37:g.170626760G>T	ENSP00000417970:p.Glu94Asp					FAM120B_ENST00000540480.1_Missense_Mutation_p.E106D|FAM120B_ENST00000537664.1_Missense_Mutation_p.E117D|FAM120B_ENST00000252510.9_Intron	p.E94D	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	390	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	94					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.282G>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555701	0.65425	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.56776	0.44;0.44;0.44	5.45	3.7	0.42460	.	0.050864	0.85682	D	0.000000	T	0.52661	0.1748	M	0.69823	2.125	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66979	0.93;0.948	T	0.54417	-0.8297	10	0.35671	T	0.21	-32.6087	6.265	0.20922	0.3864:0.0:0.6136:0.0	.	94;94	Q96EK7;F2Z2E1	F120B_HUMAN;.	D	106;117;94	ENSP00000444125:E106D;ENSP00000440125:E117D;ENSP00000417970:E94D	ENSP00000436640:E94D	E	+	3	2	FAM120B	170468685	1.000000	0.71417	0.977000	0.42913	0.927000	0.56198	0.913000	0.28611	0.883000	0.36040	0.655000	0.94253	GAG		0.443	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		7	93	1	0	0.0293803	1	0.0294659	7	93				
GBF1	8729	broad.mit.edu	37	10	104141973	104141973	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:104141973C>T	ENST00000369983.3	+	40	5720	c.5460C>T	c.(5458-5460)ggC>ggT	p.G1820G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1820	Pro-rich.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCAGGTGGGCGTGCCACCTA	0.682																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(5458-5460)ggC>ggT		golgi brefeldin A resistant guanine nucleotide exchange factor 1							91.0	82.0	85.0					10																	104141973		2203	4300	6503	SO:0001819	synonymous_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104141973C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5460C>T	10.37:g.104141973C>T							p.G1820G	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	40	5720	+		Colorectal(252;0.0236)	1820			Pro-rich.		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	c.5460C>T	CCDS7533.1																																																																																				0.682	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			50	158	0	0	0	1	0	50	158				
FMOD	2331	broad.mit.edu	37	1	203311549	203311549	+	Silent	SNP	G	G	A	rs142981560		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:203311549G>A	ENST00000354955.4	-	3	1516	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D	FMOD_ENST00000493296.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	351					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTCGTTCCCGTCCAGGCGCA	0.642											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		17809	0.0		0.0	False		,,,				2504	0.0					ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(1051-1053)gaC>gaT		fibromodulin		G		6,4400	11.4+/-27.6	0,6,2197	40.0	39.0	39.0		1053	0.2	1.0	1	dbSNP_134	39	0,8600		0,0,4300	no	coding-synonymous	FMOD	NM_002023.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		351/377	203311549	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203311549G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.1053C>T	1.37:g.203311549G>A			OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2136	FMOD_ENST00000464898.1_5'UTR	p.D351D	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		3	1516	-			351					Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	c.1053C>T	CCDS30976.1																																																																																				0.642	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		32	50	0	0	0	1	0	32	50				
ZFP41	286128	broad.mit.edu	37	8	144332526	144332526	+	Silent	SNP	C	C	T	rs149671213		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332526C>T	ENST00000330701.4	+	2	882	c.513C>T	c.(511-513)taC>taT	p.Y171Y	ZFP41_ENST00000522452.1_Silent_p.Y171Y|ZFP41_ENST00000520584.1_Silent_p.Y171Y	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	171					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGAAGCCCTACGAATGCACGC	0.592																																						ENST00000330701.4																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(511-513)taC>taT		ZFP41 zinc finger protein		C		3,4403	6.2+/-15.9	0,3,2200	80.0	89.0	86.0		513	-4.9	0.0	8	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	ZFP41	NM_173832.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		171/199	144332526	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332526C>T		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.513C>T	8.37:g.144332526C>T						ZFP41_ENST00000522452.1_Silent_p.Y171Y|ZFP41_ENST00000520584.1_Silent_p.Y171Y	p.Y171Y	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	882	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		171					D3DWJ5	Silent	SNP	ENST00000330701.4	37	c.513C>T	CCDS6397.1																																																																																				0.592	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		40	114	0	0	0	1	0	40	114				
APOE	348	broad.mit.edu	37	19	45411904	45411904	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45411904G>A	ENST00000252486.4	+	4	462	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	117	8 X 22 AA approximate tandem repeats.		A -> T (in form E3*; dbSNP:rs28931577).		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTGCAGGCGGCGCAGGCCC	0.682																																						ENST00000252486.4																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(349-351)gcG>gcA		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						19.0	16.0	17.0					19																	45411904		2187	4289	6476	SO:0001819	synonymous_variant	348				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding	g.chr19:45411904G>A	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"""Apolipoproteins"""	613	protein-coding gene	gene with protein product		107741	"""Alzheimer disease 2 (APOE*E4-associated, late onset)"""	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.351G>A	19.37:g.45411904G>A							p.A117A	NM_000041.2	NP_000032.1	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	462	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	117		A -> T (in isoform E3*; dbSNP:rs28931577).	8 X 22 AA approximate tandem repeats.		B2RC15|C0JYY5|Q9P2S4	Silent	SNP	ENST00000252486.4	37	c.351G>A	CCDS12647.1																																																																																				0.682	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		3	13	0	0	0	1	0	3	13				
MRGPRD	116512	broad.mit.edu	37	11	68748335	68748335	+	Missense_Mutation	SNP	C	C	T	rs144924033	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:68748335C>T	ENST00000309106.3	-	1	120	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	41						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTGCCATCCCGCACAGGCAG	0.597																																						ENST00000309106.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(121-123)Ggg>Agg		MAS-related GPR, member D		C	ARG/GLY	0,4400		0,0,2200	63.0	61.0	61.0		121	2.3	0.0	11	dbSNP_134	61	2,8586	2.2+/-6.3	0,2,4292	yes	missense	MRGPRD	NM_198923.2	125	0,2,6492	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	41/322	68748335	2,12986	2200	4294	6494	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68748335C>T	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.121G>A	11.37:g.68748335C>T	ENSP00000310631:p.Gly41Arg						p.G41R	NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	120	-			41					Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.121G>A	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841020	0.71488	0.0	2.33E-4	ENSG00000172938	ENST00000309106	T	0.18502	2.21	5.17	2.29	0.28610	.	0.000000	0.45867	U	0.000328	T	0.19127	0.0459	N	0.08118	0	0.42971	D	0.994434	D	0.89917	1.0	D	0.85130	0.997	T	0.07121	-1.0789	10	0.87932	D	0	-31.3446	8.9011	0.35495	0.0:0.7506:0.0:0.2494	.	41	Q8TDS7	MRGRD_HUMAN	R	41	ENSP00000310631:G41R	ENSP00000310631:G41R	G	-	1	0	MRGPRD	68504911	0.933000	0.31639	0.023000	0.16930	0.123000	0.20343	2.540000	0.45727	0.215000	0.20761	0.467000	0.42956	GGG		0.597	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		53	53	0	0	0	1	0	53	53				
LRP2	4036	broad.mit.edu	37	2	170022532	170022532	+	Missense_Mutation	SNP	G	G	A	rs373179621		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170022532G>A	ENST00000263816.3	-	62	11953	c.11668C>T	c.(11668-11670)Cgg>Tgg	p.R3890W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3890	LDL-receptor class A 35. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTGTCACACCGGAAACGGTTT	0.388																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(11668-11670)Cgg>Tgg		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G	TRP/ARG	0,4406		0,0,2203	179.0	166.0	170.0		11668	6.1	1.0	2		170	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3890/4656	170022532	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170022532G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11668C>T	2.37:g.170022532G>A	ENSP00000263816:p.Arg3890Trp						p.R3890W	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	62	11953	-			3890			LDL-receptor class A 35.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11668C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	36	5.630602	0.96682	0.0	1.16E-4	ENSG00000081479	ENST00000263816	D	0.96334	-3.98	6.06	6.06	0.98353	.	0.057142	0.64402	D	0.000001	D	0.98381	0.9462	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98537	1.0630	10	0.72032	D	0.01	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	3890	P98164	LRP2_HUMAN	W	3890	ENSP00000263816:R3890W	ENSP00000263816:R3890W	R	-	1	2	LRP2	169730778	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.954000	0.87848	2.880000	0.98712	0.650000	0.86243	CGG		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		88	104	0	0	0	1	0	88	104				
NDRG2	57447	broad.mit.edu	37	14	21486616	21486616	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:21486616C>T	ENST00000556147.1	-	13	1801	c.861G>A	c.(859-861)aaG>aaA	p.K287K	NDRG2_ENST00000397851.2_Splice_Site_p.K287K|NDRG2_ENST00000397853.3_Splice_Site_p.K287K|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000553503.1_Splice_Site_p.K273K|NDRG2_ENST00000403829.3_Splice_Site_p.K283K|NDRG2_ENST00000298684.5_Splice_Site_p.K244K|NDRG2_ENST00000360463.3_Splice_Site_p.K273K|NDRG2_ENST00000350792.3_Splice_Site_p.K273K|NDRG2_ENST00000555158.1_Splice_Site_p.K273K|NDRG2_ENST00000554104.1_Splice_Site_p.K200K|NDRG2_ENST00000554143.1_Splice_Site_p.K273K|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000298687.5_Splice_Site_p.K287K|NDRG2_ENST00000397855.3_Splice_Site_p.K244K|NDRG2_ENST00000397858.1_Splice_Site_p.K287K|NDRG2_ENST00000397847.2_Splice_Site_p.K276K			Q9UN36	NDRG2_HUMAN	NDRG family member 2	287					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGTTACTGACCTTGAGGAACG	0.572																																						ENST00000556147.1																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23						c.e13+1		NDRG family member 2							94.0	89.0	91.0					14																	21486616		2203	4300	6503	SO:0001630	splice_region_variant	57447				cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		g.chr14:21486616C>T	AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.861+1G>A	14.37:g.21486616C>T						NDRG2_ENST00000298687.5_Splice_Site_p.K287_splice|NDRG2_ENST00000553503.1_Splice_Site_p.K273_splice|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000298684.5_Splice_Site_p.K244_splice|NDRG2_ENST00000403829.3_Splice_Site_p.K283_splice|NDRG2_ENST00000397858.1_Splice_Site_p.K287_splice|NDRG2_ENST00000350792.3_Splice_Site_p.K273_splice|NDRG2_ENST00000397855.3_Splice_Site_p.K244_splice|NDRG2_ENST00000554143.1_Splice_Site_p.K273_splice|NDRG2_ENST00000397851.2_Splice_Site_p.K287_splice|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000397847.2_Splice_Site_p.K276_splice|NDRG2_ENST00000360463.3_Splice_Site_p.K273_splice|NDRG2_ENST00000397853.3_Splice_Site_p.K287_splice|NDRG2_ENST00000554104.1_Splice_Site_p.K200_splice|NDRG2_ENST00000555158.1_Splice_Site_p.K273_splice	p.K287_splice			Q9UN36	NDRG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	13	1801	-	all_cancers(95;0.00185)		287					B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Splice_Site	SNP	ENST00000556147.1	37	c.861_splice	CCDS9565.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144663	0.57044	.	.	ENSG00000165795	ENST00000553593	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	T	0.73853	0.3640	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71965	-0.4433	4	.	.	.	-21.3047	17.2897	0.87152	0.0:1.0:0.0:0.0	.	.	.	.	K	203	.	.	R	-	2	0	NDRG2	20556456	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.214000	0.77958	2.689000	0.91719	0.655000	0.94253	AGA		0.572	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1		Silent	5	37	0	0	0	1	0	5	37				
PTPN3	5774	broad.mit.edu	37	9	112166752	112166752	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112166752G>A	ENST00000374541.2	-	19	2033	c.1929C>T	c.(1927-1929)agC>agT	p.S643S	PTPN3_ENST00000394827.3_Silent_p.S111S|PTPN3_ENST00000412145.1_Silent_p.S512S|PTPN3_ENST00000262539.3_Silent_p.S489S|PTPN3_ENST00000446349.1_Silent_p.S467S	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	643					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCACCGTCCCGCTTTCGAGGC	0.572																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1534-1536)agC>agT		protein tyrosine phosphatase, non-receptor type 3							100.0	89.0	92.0					9																	112166752		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112166752G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1929C>T	9.37:g.112166752G>A						PTPN3_ENST00000262539.3_Silent_p.S489S|PTPN3_ENST00000394827.3_Silent_p.S111S|PTPN3_ENST00000446349.1_Silent_p.S467S|PTPN3_ENST00000374541.2_Silent_p.S643S	p.S512S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			14	4089	-			643			PDZ.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.1536C>T	CCDS6776.1																																																																																				0.572	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			48	73	0	0	0	1	0	48	73				
LIPE	3991	broad.mit.edu	37	19	42912409	42912409	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42912409G>A	ENST00000244289.4	-	3	1761	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'UTR	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	495					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGCGTTTGTAGTGCTCCCCGA	0.627																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1483-1485)caC>caT		lipase, hormone-sensitive							196.0	192.0	194.0					19																	42912409		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912409G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1485C>T	19.37:g.42912409G>A						LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	p.H495H	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			3	1761	-		Prostate(69;0.00682)	495					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.1485C>T	CCDS12607.1																																																																																				0.627	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		45	211	0	0	0	1	0	45	211				
HTR1D	3352	broad.mit.edu	37	1	23519885	23519885	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23519885G>A	ENST00000374619.1	-	1	1337	c.828C>T	c.(826-828)caC>caT	p.H276H	HTR1D_ENST00000314113.3_Silent_p.H276H	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	276					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)	TGATTTTCACGTGGTTGAAAA	0.567																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(826-828)caC>caT		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)						73.0	78.0	76.0					1																	23519885		2203	4300	6503	SO:0001819	synonymous_variant	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23519885G>A	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.828C>T	1.37:g.23519885G>A						HTR1D_ENST00000314113.3_Silent_p.H276H	p.H276H	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	1337	-		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)	276						Silent	SNP	ENST00000374619.1	37	c.828C>T	CCDS231.1																																																																																				0.567	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		83	103	0	0	0	1	0	83	103				
LPAR3	23566	broad.mit.edu	37	1	85331490	85331490	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:85331490C>T	ENST00000440886.1	-	1	352	c.314G>A	c.(313-315)cGt>cAt	p.R105H	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.R105H			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	105					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGCCCCTGACGGAGAAACCA	0.502																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(313-315)cGt>cAt		lysophosphatidic acid receptor 3							159.0	167.0	164.0					1																	85331490		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331490C>T	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.314G>A	1.37:g.85331490C>T	ENSP00000395389:p.Arg105His					LPAR3_ENST00000370611.3_Missense_Mutation_p.R105H|LPAR3_ENST00000491034.1_5'UTR	p.R105H			Q9UBY5	LPAR3_HUMAN			1	352	-			105					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.314G>A	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634027	0.87660	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.37058	1.22;1.22	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66842	-0.5821	10	0.72032	D	0.01	.	19.7225	0.96148	0.0:1.0:0.0:0.0	.	105	Q9UBY5	LPAR3_HUMAN	H	105	ENSP00000395389:R105H;ENSP00000359643:R105H	ENSP00000359643:R105H	R	-	2	0	LPAR3	85104078	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.792000	0.85828	2.674000	0.91012	0.655000	0.94253	CGT		0.502	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		155	211	0	0	0	1	0	155	211				
ANXA9	8416	broad.mit.edu	37	1	150967084	150967084	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:150967084G>A	ENST00000368947.4	+	13	1360	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	295					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCCTGATTCGCATCCTTATC	0.468																																						ENST00000368947.4																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8						c.(883-885)cGc>cAc		annexin A9							204.0	188.0	194.0					1																	150967084		2203	4300	6503	SO:0001583	missense	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150967084G>A	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.884G>A	1.37:g.150967084G>A	ENSP00000357943:p.Arg295His						p.R295H	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	1360	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		295					Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Missense_Mutation	SNP	ENST00000368947.4	37	c.884G>A	CCDS975.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740016	0.89573	.	.	ENSG00000143412	ENST00000368947	T	0.09538	2.97	5.1	5.1	0.69264	.	0.139910	0.48767	D	0.000179	T	0.37945	0.1022	H	0.94698	3.57	0.53005	D	0.999962	D	0.89917	1.0	D	0.91635	0.999	T	0.55101	-0.8193	10	0.87932	D	0	.	16.0098	0.80391	0.0:0.0:1.0:0.0	.	295	O76027	ANXA9_HUMAN	H	295	ENSP00000357943:R295H	ENSP00000357943:R295H	R	+	2	0	ANXA9	149233708	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.645000	0.67909	2.371000	0.80710	0.655000	0.94253	CGC		0.468	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		117	201	0	0	0	1	0	117	201				
CYP4F8	11283	broad.mit.edu	37	19	15729056	15729056	+	RNA	SNP	C	C	G	rs714772	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15729056C>G	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TACTCAGCCCCTTCCTTCCTG	0.537													.|||	1603	0.320088	0.3472	0.4164	5008	,	,		20826	0.4643		0.1938	False		,,,				2504	0.1963					ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8																																						11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15729056C>G	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15729056C>G										P98187	CP4F8_HUMAN			0	407	+									RNA	SNP	ENST00000441682.2	37																																																																																						0.537	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		3	43	0	0	0	1	0	3	43				
SBK2	646643	broad.mit.edu	37	19	56041301	56041301	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:56041301C>T	ENST00000413299.1	-	4	883	c.846G>A	c.(844-846)gcG>gcA	p.A282A	SBK2_ENST00000344158.3_Silent_p.A282A	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTGGCCCGACGCCTGCCAGA	0.731																																						ENST00000413299.1																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(844-846)gcG>gcA		SH3 domain binding kinase family, member 2							3.0	4.0	3.0					19																	56041301		1572	3527	5099	SO:0001819	synonymous_variant	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56041301C>T		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.846G>A	19.37:g.56041301C>T						SBK2_ENST00000344158.3_Silent_p.A282A	p.A282A	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN			4	883	-			282			Protein kinase.			Silent	SNP	ENST00000413299.1	37	c.846G>A	CCDS42631.1																																																																																				0.731	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		4	6	0	0	0	1	0	4	6				
CRTAC1	55118	broad.mit.edu	37	10	99696063	99696063	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:99696063G>A	ENST00000370597.3	-	3	640	c.285C>T	c.(283-285)atC>atT	p.I95I	CRTAC1_ENST00000298819.4_Silent_p.I95I|CRTAC1_ENST00000370591.2_Silent_p.I95I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	95						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCGACCGCGATGTTCACCA	0.667																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(283-285)atC>atT		cartilage acidic protein 1							58.0	50.0	53.0					10																	99696063		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99696063G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.285C>T	10.37:g.99696063G>A						CRTAC1_ENST00000370591.2_Silent_p.I95I|CRTAC1_ENST00000298819.4_Silent_p.I95I	p.I95I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	640	-		Colorectal(252;0.24)	95					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	c.285C>T	CCDS31266.1																																																																																				0.667	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		31	40	0	0	0	1	0	31	40				
PDE8B	8622	broad.mit.edu	37	5	76649192	76649192	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:76649192G>A	ENST00000264917.5	+	10	1173	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	PDE8B_ENST00000333194.4_Silent_p.S376S|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Silent_p.S329S|PDE8B_ENST00000342343.4_Silent_p.S356S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	376					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	ATTTTGTCTCGCTCAAGAAAC	0.368																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(1126-1128)tcG>tcA		phosphodiesterase 8B							204.0	181.0	189.0					5																	76649192		2203	4300	6503	SO:0001819	synonymous_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76649192G>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1128G>A	5.37:g.76649192G>A						PDE8B_ENST00000342343.4_Silent_p.S356S|PDE8B_ENST00000340978.3_Silent_p.S329S|PDE8B_ENST00000333194.4_Silent_p.S376S|PDE8B_ENST00000346042.3_Intron	p.S376S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	10	1173	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	376					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.1128G>A	CCDS4037.1																																																																																				0.368	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		24	43	0	0	0	1	0	24	43				
CLEC4F	165530	broad.mit.edu	37	2	71043766	71043766	+	Silent	SNP	G	G	A	rs142908853		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71043766G>A	ENST00000272367.2	-	4	823	c.747C>T	c.(745-747)aaC>aaT	p.N249N	CLEC4F_ENST00000426626.1_Silent_p.N249N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	249					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGCATTAGCGTTCTTTAAAC	0.418																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(745-747)aaC>aaT		C-type lectin domain family 4, member F		A		2,4404	4.2+/-10.8	0,2,2201	80.0	78.0	79.0		747	-2.5	0.0	2	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	CLEC4F	NM_173535.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		249/590	71043766	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043766G>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.747C>T	2.37:g.71043766G>A						CLEC4F_ENST00000426626.1_Silent_p.N249N	p.N249N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			4	823	-			249					A4QPA5	Silent	SNP	ENST00000272367.2	37	c.747C>T	CCDS1910.1																																																																																				0.418	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		31	88	0	0	0	1	0	31	88				
BFSP1	631	broad.mit.edu	37	20	17489628	17489628	+	Missense_Mutation	SNP	G	G	A	rs577981820		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:17489628G>A	ENST00000377873.3	-	5	680	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BFSP1_ENST00000544874.1_Missense_Mutation_p.T75M|BFSP1_ENST00000377868.2_Missense_Mutation_p.T89M|BFSP1_ENST00000536626.1_Missense_Mutation_p.T75M	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	214	Coil 2.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTCCCGCTCCGTCAGGAGCTT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16012	0.001		0.0	False		,,,				2504	0.0					ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(640-642)aCg>aTg		beaded filament structural protein 1, filensin							11.0	11.0	11.0					20																	17489628		2199	4280	6479	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17489628G>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.641C>T	20.37:g.17489628G>A	ENSP00000367104:p.Thr214Met					BFSP1_ENST00000377868.2_Missense_Mutation_p.T89M|BFSP1_ENST00000544874.1_Missense_Mutation_p.T75M|BFSP1_ENST00000536626.1_Missense_Mutation_p.T75M	p.T214M	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			5	680	-			214			Coil 2.|Rod.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.641C>T	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432587	0.25813	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.87256	-2.23;1.44;1.44;1.44	5.35	2.37	0.29283	.	0.364685	0.30940	N	0.008569	T	0.80215	0.4582	M	0.63428	1.95	0.20074	N	0.999935	P;P	0.46859	0.789;0.885	B;B	0.31337	0.128;0.086	T	0.71928	-0.4444	10	0.62326	D	0.03	-10.1934	9.6988	0.40173	0.2284:0.0:0.7716:0.0	.	89;214	Q12934-2;Q12934	.;BFSP1_HUMAN	M	214;89;75;75	ENSP00000367104:T214M;ENSP00000367099:T89M;ENSP00000442522:T75M;ENSP00000439870:T75M	ENSP00000367099:T89M	T	-	2	0	BFSP1	17437628	1.000000	0.71417	0.047000	0.18901	0.664000	0.39144	4.773000	0.62331	0.348000	0.23949	-0.266000	0.10368	ACG		0.647	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		11	17	0	0	0	1	0	11	17				
TRIM54	57159	broad.mit.edu	37	2	27529116	27529116	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:27529116G>A	ENST00000380075.2	+	7	1242	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	TRIM54_ENST00000296098.4_Missense_Mutation_p.R343Q	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	301	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCAGGGCGGCCGGAGCCA	0.642																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1027-1029)cGg>cAg		tripartite motif containing 54							53.0	60.0	57.0					2																	27529116		2203	4300	6503	SO:0001583	missense	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27529116G>A	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.902G>A	2.37:g.27529116G>A	ENSP00000369415:p.Arg301Gln					TRIM54_ENST00000380075.2_Missense_Mutation_p.R301Q	p.R343Q	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			8	1298	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		301					A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	c.1028G>A	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267287	0.80469	.	.	ENSG00000138100	ENST00000380075;ENST00000380073;ENST00000296098	T;T	0.41758	1.23;0.99	5.1	4.22	0.49857	COS domain (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	L	0.55990	1.75	0.37394	D	0.912567	P;P	0.41848	0.48;0.763	B;B	0.37267	0.031;0.245	T	0.40136	-0.9579	10	0.40728	T	0.16	-23.6807	11.2343	0.48931	0.0903:0.0:0.9097:0.0	.	301;343	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	Q	301;122;343	ENSP00000369415:R301Q;ENSP00000296098:R343Q	ENSP00000296098:R343Q	R	+	2	0	TRIM54	27382620	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	3.255000	0.51484	1.141000	0.42275	0.561000	0.74099	CGG		0.642	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		51	111	0	0	0	1	0	51	111				
ACOT11	26027	broad.mit.edu	37	1	55050400	55050400	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:55050400G>A	ENST00000371316.3	+	2	188	c.106G>A	c.(106-108)Gca>Aca	p.A36T	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.A36T	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	36	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.A36T(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CAGTGCCATGGCAGACGGCGA	0.647																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000371316.3																			1	Substitution - Missense(1)	p.A36T(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(106-108)Gca>Aca		acyl-CoA thioesterase 11							106.0	87.0	93.0					1																	55050400		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55050400G>A	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.106G>A	1.37:g.55050400G>A	ENSP00000360366:p.Ala36Thr					ACOT11_ENST00000343744.2_Missense_Mutation_p.A36T|ACOT11_ENST00000481208.1_3'UTR	p.A36T	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN			2	188	+			36			Acyl coenzyme A hydrolase 1.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.106G>A	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763838	0.31228	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.11385	2.84;2.78	4.87	3.96	0.45880	.	0.930221	0.09299	N	0.821258	T	0.10337	0.0253	L	0.36672	1.1	0.44603	D	0.997575	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.004	T	0.08310	-1.0728	10	0.28530	T	0.3	-19.3722	10.2886	0.43581	0.0768:0.1357:0.7874:0.0	.	36;36	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	T	36	ENSP00000340260:A36T;ENSP00000360366:A36T	ENSP00000340260:A36T	A	+	1	0	ACOT11	54822988	0.996000	0.38824	0.905000	0.35620	0.096000	0.18686	2.662000	0.46766	1.369000	0.46134	-0.137000	0.14449	GCA		0.647	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		5	130	0	0	0	1	0	5	130				
NTN3	4917	broad.mit.edu	37	16	2522180	2522180	+	Missense_Mutation	SNP	C	C	T	rs369956934		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522180C>T	ENST00000293973.1	+	1	681	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	160	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGACTATGGCCGTCTGCCTGC	0.697																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(478-480)Cgt>Tgt		netrin 3		C	CYS/ARG	0,4392		0,0,2196	21.0	25.0	24.0		478	3.0	1.0	16		24	1,8595		0,1,4297	no	missense	NTN3	NM_006181.2	180	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	160/581	2522180	1,12987	2196	4298	6494	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522180C>T	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.478C>T	16.37:g.2522180C>T	ENSP00000293973:p.Arg160Cys						p.R160C	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			1	681	+			160			Laminin N-terminal.			Missense_Mutation	SNP	ENST00000293973.1	37	c.478C>T	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021442	0.35701	0.0	1.16E-4	ENSG00000162068	ENST00000293973	T	0.75589	-0.95	4.08	3.05	0.35203	Laminin, N-terminal (3);	0.165133	0.34580	N	0.003842	D	0.83138	0.5189	M	0.78049	2.395	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.82744	-0.0306	10	0.48119	T	0.1	.	8.8447	0.35164	0.3943:0.6057:0.0:0.0	.	160	O00634	NET3_HUMAN	C	160	ENSP00000293973:R160C	ENSP00000293973:R160C	R	+	1	0	NTN3	2462181	0.994000	0.37717	0.982000	0.44146	0.281000	0.26958	0.446000	0.21694	2.121000	0.65114	0.462000	0.41574	CGT		0.697	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		18	44	0	0	0	1	0	18	44				
ARVCF	421	broad.mit.edu	37	22	19960526	19960526	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:19960526G>A	ENST00000263207.3	-	15	2763	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	ARVCF_ENST00000344269.3_Silent_p.H761H|ARVCF_ENST00000406259.1_Silent_p.H818H|ARVCF_ENST00000406522.1_Silent_p.H755H|ARVCF_ENST00000401994.1_Silent_p.H761H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	824					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCTGCAGCACGTGTGACGCCG	0.672																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2470-2472)caC>caT		armadillo repeat gene deleted in velocardiofacial syndrome							147.0	127.0	134.0					22																	19960526		2203	4300	6503	SO:0001819	synonymous_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19960526G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2472C>T	22.37:g.19960526G>A						ARVCF_ENST00000406522.1_Silent_p.H755H|ARVCF_ENST00000406259.1_Silent_p.H818H|ARVCF_ENST00000401994.1_Silent_p.H761H|ARVCF_ENST00000344269.3_Silent_p.H761H	p.H824H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			15	2763	-	Colorectal(54;0.0993)		824					B7WNV2	Silent	SNP	ENST00000263207.3	37	c.2472C>T	CCDS13771.1																																																																																				0.672	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		49	164	0	0	0	1	0	49	164				
TUBG1	7283	broad.mit.edu	37	17	40766567	40766567	+	Silent	SNP	G	G	A	rs558170992		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40766567G>A	ENST00000251413.3	+	10	1112	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	350					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	ACTTCATCCCGTGGGGCCCCG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16356	0.0		0.0	False		,,,				2504	0.0				Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1048-1050)ccG>ccA		tubulin, gamma 1							38.0	46.0	43.0					17																	40766567		2202	4292	6494	SO:0001819	synonymous_variant	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40766567G>A	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1050G>A	17.37:g.40766567G>A							p.P350P	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	10	1112	+		Breast(137;0.00116)	350					Q53X79|Q9BW59	Silent	SNP	ENST00000251413.3	37	c.1050G>A	CCDS11433.1																																																																																				0.652	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		108	25	0	0	0	1	0	108	25				
ZSCAN18	65982	broad.mit.edu	37	19	58596148	58596148	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58596148C>T	ENST00000240727.6	-	7	1836	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	ZSCAN18_ENST00000600404.1_Silent_p.P535P|ZSCAN18_ENST00000601144.1_Silent_p.P479P|ZSCAN18_ENST00000421612.2_Silent_p.P343P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	479					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)		CGCGGGTGGACGGTTGGGGGC	0.726																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(1435-1437)ccG>ccA		zinc finger and SCAN domain containing 18							10.0	11.0	11.0					19																	58596148		2142	4192	6334	SO:0001819	synonymous_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596148C>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.1437G>A	19.37:g.58596148C>T						ZSCAN18_ENST00000421612.2_Silent_p.P343P|ZSCAN18_ENST00000600404.1_Silent_p.P535P|ZSCAN18_ENST00000601144.1_Silent_p.P479P	p.P479P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1836	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	479					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	37	c.1437G>A	CCDS12971.1																																																																																				0.726	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		5	12	0	0	0	1	0	5	12				
AP5Z1	9907	broad.mit.edu	37	7	4824642	4824642	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:4824642C>T	ENST00000348624.4	+	7	988	c.894C>T	c.(892-894)ttC>ttT	p.F298F	AP5Z1_ENST00000401897.1_Silent_p.F298F	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	298					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGGTGGCCTTCGAGTACTGCC	0.682																																						ENST00000348624.4																			0											c.(892-894)ttC>ttT		adaptor-related protein complex 5, zeta 1 subunit							21.0	26.0	24.0					7																	4824642		1932	4114	6046	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4824642C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.894C>T	7.37:g.4824642C>T						AP5Z1_ENST00000401897.1_Silent_p.F298F	p.F298F	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			7	988	+			298					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.894C>T	CCDS47528.1																																																																																				0.682	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			44	63	0	0	0	1	0	44	63				
TTN	7273	broad.mit.edu	37	2	179604439	179604439	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179604439C>A	ENST00000591111.1	-	46	12794	c.12570G>T	c.(12568-12570)atG>atT	p.M4190I	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M4507I|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M4336I|TTN_ENST00000359218.5_Missense_Mutation_p.M4269I|TTN_ENST00000460472.2_Missense_Mutation_p.M4144I			Q8WZ42	TITIN_HUMAN	titin	0					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)			AAAAAGAATCCATTTCTTCTT	0.388																																						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.(13519-13521)atG>atT		titin							159.0	158.0	159.0					2																	179604439		1847	4095	5942	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604439C>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.12570G>T	2.37:g.179604439C>A	ENSP00000465570:p.Met4190Ile					TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M4144I|TTN_ENST00000342175.6_Missense_Mutation_p.M4336I|TTN_ENST00000359218.5_Missense_Mutation_p.M4269I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M4190I	p.M4507I	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)		48	13745	-			4190			Ig-like 25.		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.13521G>T		.	.	.	.	.	.	.	.	.	.	C	1.447	-0.565968	0.03910	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59772	0.3;0.25;0.24	5.11	-2.04	0.07343	.	.	.	.	.	T	0.40119	0.1104	L	0.40543	1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.40813	-0.9543	9	0.87932	D	0	.	0.9884	0.01451	0.3735:0.1621:0.1037:0.3607	.	4144;4269;4336	D3DPF9;E7EQE6;E7ET18	.;.;.	I	4144;4336;4269;4144	ENSP00000434586:M4144I;ENSP00000340554:M4336I;ENSP00000352154:M4269I	ENSP00000340554:M4336I	M	-	3	0	TTN	179312684	0.000000	0.05858	0.001000	0.08648	0.163000	0.22366	-0.580000	0.05827	-0.035000	0.13691	-0.152000	0.13540	ATG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	212	1	0	2.85442e-18	1	2.93536e-18	31	212				
MAN2A2	4122	broad.mit.edu	37	15	91455396	91455396	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:91455396G>A	ENST00000559717.1	+	15	2692	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000360468.3_Missense_Mutation_p.V745I|MAN2A2_ENST00000431652.2_Missense_Mutation_p.V253I			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	745					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGCTGTCCGTCAGCAGGCA	0.647																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2233-2235)Gtc>Atc		mannosidase, alpha, class 2A, member 2							71.0	67.0	68.0					15																	91455396		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91455396G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2233G>A	15.37:g.91455396G>A	ENSP00000452948:p.Val745Ile					MAN2A2_ENST00000431652.2_Missense_Mutation_p.V253I|MAN2A2_ENST00000559717.1_Missense_Mutation_p.V745I	p.V745I	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		14	2251	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		745					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.2233G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	g	8.331	0.826460	0.16749	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	D;D	0.83075	-1.68;-1.68	5.29	4.38	0.52667	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.309465	0.36409	N	0.002619	T	0.69196	0.3084	L	0.27944	0.81	0.80722	D	1	B;B;B	0.32731	0.382;0.048;0.021	B;B;B	0.25506	0.061;0.036;0.021	T	0.64659	-0.6355	10	0.15499	T	0.54	-38.8665	12.5225	0.56067	0.0776:0.0:0.9224:0.0	.	253;373;745	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	I	745;253	ENSP00000353655:V745I;ENSP00000388221:V253I	ENSP00000353655:V745I	V	+	1	0	MAN2A2	89256400	0.559000	0.26562	0.836000	0.33094	0.147000	0.21601	1.450000	0.35134	1.262000	0.44165	-0.365000	0.07479	GTC		0.647	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		45	170	0	0	0	1	0	45	170				
GDI1	2664	broad.mit.edu	37	X	153670771	153670771	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153670771G>A	ENST00000447750.2	+	10	1522	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	GDI1_ENST00000465640.1_3'UTR|FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	396					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTTGTGAGAGCCAGGTAAGC	0.612																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(1186-1188)aGc>aAc		GDP dissociation inhibitor 1							110.0	99.0	103.0					X																	153670771		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153670771G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.1187G>A	X.37:g.153670771G>A	ENSP00000394071:p.Ser396Asn					GDI1_ENST00000465640.1_3'UTR	p.S396N	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			10	1522	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		396					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.1187G>A	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520804	0.44866	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.86366	-2.11	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	L	0.50919	1.6	0.80722	D	1	B	0.12630	0.006	B	0.21546	0.035	T	0.81777	-0.0777	10	0.52906	T	0.07	-23.0991	15.2682	0.73678	0.0:0.0:1.0:0.0	.	396	P31150	GDIA_HUMAN	N	396;366	ENSP00000394071:S396N	ENSP00000358756:S366N	S	+	2	0	GDI1	153323965	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	9.760000	0.98935	2.195000	0.70347	0.513000	0.50165	AGC		0.612	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		131	31	0	0	0	1	0	131	31				
MMEL1	79258	broad.mit.edu	37	1	2541236	2541236	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:2541236C>T	ENST00000378412.3	-	5	488	c.327G>A	c.(325-327)acG>acA	p.T109T	MMEL1_ENST00000288709.6_Silent_p.T100T|MMEL1_ENST00000502556.1_Silent_p.T109T			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	109						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)		CACACGGTTCCGTGGTCGGGT	0.602																																						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.(298-300)acG>acA		membrane metallo-endopeptidase-like 1							103.0	80.0	88.0					1																	2541236		2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2541236C>T	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.327G>A	1.37:g.2541236C>T						MMEL1_ENST00000502556.1_Silent_p.T109T|MMEL1_ENST00000378412.3_Silent_p.T109T	p.T100T	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)	5	540	-	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)	109					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.300G>A	CCDS30569.2																																																																																				0.602	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		49	86	0	0	0	1	0	49	86				
MLH1	4292	broad.mit.edu	37	3	37038172	37038172	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:37038172A>C	ENST00000231790.2	+	2	395	c.179A>C	c.(178-180)cAg>cCg	p.Q60P	MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000435176.1_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	60					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AAGTTGATTCAGATCCAAGAC	0.413		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		0				NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(178-180)cAg>cCg	Mismatch excision repair (MMR)	mutL homolog 1							118.0	114.0	115.0					3																	37038172		2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37038172A>C	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.179A>C	3.37:g.37038172A>C	ENSP00000231790:p.Gln60Pro					MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000435176.1_5'UTR	p.Q60P	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			2	395	+			60					B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.179A>C	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.818606	0.90790	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937	D	0.90133	-2.62	5.85	5.85	0.93711	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.064498	0.64402	D	0.000003	D	0.97337	0.9129	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	D	0.98805	1.0741	10	0.87932	D	0	-17.3785	15.215	0.73258	1.0:0.0:0.0:0.0	.	60;60	Q53GX1;P40692	.;MLH1_HUMAN	P	60;26;26	ENSP00000231790:Q60P	ENSP00000231790:Q60P	Q	+	2	0	MLH1	37013176	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.438000	0.90305	2.229000	0.72834	0.519000	0.50382	CAG		0.413	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		51	11	0	0	0	1	0	51	11				
LGALS4	3960	broad.mit.edu	37	19	39299582	39299582	+	Silent	SNP	G	G	A	rs140167180		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39299582G>A	ENST00000307751.4	-	3	618	c.141C>T	c.(139-141)ttC>ttT	p.F47F	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	47	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAAAGTTCACGAAGAACCTGG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15538	0.0		0.0	False		,,,				2504	0.0					ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(139-141)ttC>ttT		lectin, galactoside-binding, soluble, 4		G		0,4404		0,0,2202	54.0	44.0	47.0		141	-4.0	0.0	19	dbSNP_134	47	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	LGALS4	NM_006149.3		0,10,6492	AA,AG,GG		0.1163,0.0,0.0769		47/324	39299582	10,12994	2202	4300	6502	SO:0001819	synonymous_variant	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39299582G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.141C>T	19.37:g.39299582G>A						LGALS4_ENST00000597803.1_Intron	p.F47F	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		3	618	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		47			Galectin 1.			Silent	SNP	ENST00000307751.4	37	c.141C>T	CCDS12521.1																																																																																				0.642	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		7	19	0	0	0	1	0	7	19				
OR10G7	390265	broad.mit.edu	37	11	123909049	123909049	+	Silent	SNP	G	G	A	rs12291067	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123909049G>A	ENST00000330487.5	-	1	668	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGAACAGACGATGGACACAT	0.557																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(658-660)atC>atT		olfactory receptor, family 10, subfamily G, member 7							144.0	125.0	131.0					11																	123909049		2201	4298	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909049G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.660C>T	11.37:g.123909049G>A							p.I220I	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	668	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	220					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.660C>T	CCDS31705.1																																																																																				0.557	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		31	106	0	0	0	1	0	31	106				
HSPG2	3339	broad.mit.edu	37	1	22166340	22166340	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22166340C>T	ENST00000374695.3	-	72	9763	c.9684G>A	c.(9682-9684)acG>acA	p.T3228T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3228	Ig-like C2-type 18.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCAAGGTGGCCGTGTGTCCAG	0.627																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(9682-9684)acG>acA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						61.0	60.0	60.0					1																	22166340		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22166340C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9684G>A	1.37:g.22166340C>T							p.T3228T	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	72	9763	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3228			Ig-like C2-type 18.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.9684G>A	CCDS30625.1																																																																																				0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		84	102	0	0	0	1	0	84	102				
ARHGAP22	58504	broad.mit.edu	37	10	49687793	49687793	+	Missense_Mutation	SNP	G	G	A	rs369383542		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:49687793G>A	ENST00000249601.4	-	4	633	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R113W|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R119W|ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.R23W|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.R23W	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	113	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTTCTCCCGCTCCCCGGCA	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16834	0.0		0.0	False		,,,				2504	0.0					ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(337-339)Cgg>Tgg		Rho GTPase activating protein 22		G	TRP/ARG	0,4396		0,0,2198	17.0	17.0	17.0		337	3.7	1.0	10		17	1,8595		0,1,4297	no	missense	ARHGAP22	NM_021226.2	101	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	113/699	49687793	1,12991	2198	4298	6496	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49687793G>A	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.337C>T	10.37:g.49687793G>A	ENSP00000249601:p.Arg113Trp					ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R119W|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.R23W|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.R23W|ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R113W	p.R113W	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			4	633	-			113			PH.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.337C>T	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643064	0.47153	0.0	1.16E-4	ENSG00000128805	ENST00000249601;ENST00000374170;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T	0.27890	2.74;1.64;2.37;2.69;2.74	4.57	3.65	0.41850	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.164651	0.41001	D	0.000967	T	0.32436	0.0829	N	0.21373	0.66	0.39263	D	0.96425	B;D;B;D	0.57571	0.211;0.98;0.031;0.972	B;P;B;P	0.54100	0.056;0.502;0.032;0.742	T	0.27365	-1.0076	10	0.72032	D	0.01	.	13.0731	0.59072	0.0:0.0:0.8381:0.1619	.	119;113;113;23	B4DED8;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3	.;.;RHG22_HUMAN;.	W	113;23;23;119;113	ENSP00000249601:R113W;ENSP00000363285:R23W;ENSP00000410054:R23W;ENSP00000416701:R119W;ENSP00000412461:R113W	ENSP00000249601:R113W	R	-	1	2	ARHGAP22	49357799	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.941000	0.56607	1.122000	0.41944	-0.181000	0.13052	CGG		0.672	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		9	20	0	0	0	1	0	9	20				
LPCAT2	54947	broad.mit.edu	37	16	55613052	55613052	+	Missense_Mutation	SNP	C	C	T	rs142090669	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:55613052C>T	ENST00000262134.5	+	13	1530	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	449	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GGCTACATAACGGAGGAAGAG	0.433													C|||	21	0.00419329	0.0	0.0	5008	,	,		18890	0.0		0.001	False		,,,				2504	0.0204					ENST00000262134.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(1345-1347)aCg>aTg		lysophosphatidylcholine acyltransferase 2		C	MET/THR	5,4391	9.9+/-24.2	0,5,2193	165.0	168.0	167.0		1346	3.6	0.0	16	dbSNP_134	167	19,8581	14.0+/-48.4	0,19,4281	yes	missense	LPCAT2	NM_017839.4	81	0,24,6474	TT,TC,CC		0.2209,0.1137,0.1847	probably-damaging	449/545	55613052	24,12972	2198	4300	6498	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55613052C>T	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1346C>T	16.37:g.55613052C>T	ENSP00000262134:p.Thr449Met					LPCAT2_ENST00000565056.1_3'UTR	p.T449M	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN			13	1530	+			449			EF-hand 2.		A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.1346C>T	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530861	0.64972	0.001137	0.002209	ENSG00000087253	ENST00000262134	T	0.74737	-0.87	5.62	3.63	0.41609	EF-hand-like domain (1);	0.147653	0.64402	D	0.000010	D	0.86239	0.5885	M	0.90542	3.125	0.53688	D	0.999977	D	0.89917	1.0	D	0.68943	0.961	D	0.86564	0.1843	10	0.66056	D	0.02	-13.211	9.5934	0.39559	0.0:0.7824:0.1419:0.0757	.	449	Q7L5N7	PCAT2_HUMAN	M	449	ENSP00000262134:T449M	ENSP00000262134:T449M	T	+	2	0	LPCAT2	54170553	0.996000	0.38824	0.035000	0.18076	0.939000	0.58152	3.332000	0.52083	0.820000	0.34516	0.655000	0.94253	ACG		0.433	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		19	131	0	0	0	1	0	19	131				
PGLYRP2	114770	broad.mit.edu	37	19	15580456	15580456	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15580456G>A	ENST00000340880.4	-	4	2108	c.1628C>T	c.(1627-1629)cCg>cTg	p.P543L	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.P543L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	543					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTGAAGTGCGGCCAGGTGCG	0.721																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1627-1629)cCg>cTg		peptidoglycan recognition protein 2							9.0	8.0	8.0					19																	15580456		2157	4217	6374	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15580456G>A	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1628C>T	19.37:g.15580456G>A	ENSP00000345968:p.Pro543Leu					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P543L	p.P543L			Q96PD5	PGRP2_HUMAN			4	1757	-			543					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.1628C>T	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735749	0.69189	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.19938	2.11;2.11	5.34	5.34	0.76211	N-acetylmuramoyl-L-alanine amidase domain (2);	0.180437	0.47093	D	0.000255	T	0.25901	0.0631	L	0.59436	1.845	0.43152	D	0.994927	P;P	0.47409	0.87;0.895	P;B	0.44447	0.45;0.29	T	0.02498	-1.1150	10	0.66056	D	0.02	-35.2027	11.595	0.50968	0.0:0.0:0.8217:0.1783	.	543;543	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	L	543	ENSP00000345968:P543L;ENSP00000292609:P543L	ENSP00000292609:P543L	P	-	2	0	PGLYRP2	15441456	0.979000	0.34478	1.000000	0.80357	0.739000	0.42172	1.857000	0.39399	2.501000	0.84356	0.563000	0.77884	CCG		0.721	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		12	13	0	0	0	1	0	12	13				
POLR1B	84172	broad.mit.edu	37	2	113322007	113322007	+	Silent	SNP	C	C	T	rs189967507	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:113322007C>T	ENST00000263331.5	+	10	2257	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	POLR1B_ENST00000417433.2_Silent_p.D503D|POLR1B_ENST00000541869.1_Silent_p.D597D|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Silent_p.D348D	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	559					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCTGCTGGACGGTGTCATGG	0.502													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20783	0.0		0.0	False		,,,				2504	0.0				Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1675-1677)gaC>gaT		polymerase (RNA) I polypeptide B, 128kDa							251.0	216.0	228.0					2																	113322007		2203	4300	6503	SO:0001819	synonymous_variant	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113322007C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1677C>T	2.37:g.113322007C>T						POLR1B_ENST00000417433.2_Silent_p.D503D|POLR1B_ENST00000537335.1_Silent_p.D348D|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000541869.1_Silent_p.D597D	p.D559D	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			10	2257	+			559					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	ENST00000263331.5	37	c.1677C>T	CCDS2097.1																																																																																				0.502	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		74	135	0	0	0	1	0	74	135				
NOTCH1	4851	broad.mit.edu	37	9	139401406	139401406	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139401406G>A	ENST00000277541.6	-	23	3738	c.3663C>T	c.(3661-3663)aaC>aaT	p.N1221N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1221	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGTCGTCCACGTTGATCTCAC	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3661-3663)aaC>aaT		notch 1							12.0	14.0	13.0					9																	139401406		2020	4162	6182	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401406G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3663C>T	9.37:g.139401406G>A		HNSCC(8;0.001)					p.N1221N	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	23	3738	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1221			EGF-like 32; calcium-binding (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.3663C>T	CCDS43905.1																																																																																				0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		14	24	0	0	0	1	0	14	24				
BTBD17	388419	broad.mit.edu	37	17	72353024	72353024	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353024G>A	ENST00000375366.3	-	3	1335	c.1209C>T	c.(1207-1209)gaC>gaT	p.D403D		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	403					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						CGCCCGCCGCGTCGCCGCCGC	0.771																																						ENST00000375366.3																			0				endometrium(1)|kidney(1)|lung(4)	6						c.(1207-1209)gaC>gaT		BTB (POZ) domain containing 17							2.0	3.0	3.0					17																	72353024		1429	3031	4460	SO:0001819	synonymous_variant	388419					extracellular region		g.chr17:72353024G>A		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.1209C>T	17.37:g.72353024G>A							p.D403D	NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN			3	1335	-			403						Silent	SNP	ENST00000375366.3	37	c.1209C>T	CCDS32719.1																																																																																				0.771	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		10	4	0	0	0	1	0	10	4				
FGD3	89846	broad.mit.edu	37	9	95738979	95738979	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:95738979C>T	ENST00000375482.3	+	3	937	c.441C>T	c.(439-441)gcC>gcT	p.A147A	FGD3_ENST00000416701.2_Silent_p.A147A|FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000337352.6_Silent_p.A147A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	147					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						ACAAGGATGCCGGCCTGGCCC	0.637																																						ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(439-441)gcC>gcT		FYVE, RhoGEF and PH domain containing 3							17.0	21.0	20.0					9																	95738979		2025	4171	6196	SO:0001819	synonymous_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95738979C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.441C>T	9.37:g.95738979C>T						FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000416701.2_Silent_p.A147A|FGD3_ENST00000337352.6_Silent_p.A147A	p.A147A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			3	937	+			147					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	c.441C>T	CCDS43849.1																																																																																				0.637	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		13	34	0	0	0	1	0	13	34				
SQRDL	58472	broad.mit.edu	37	15	45974846	45974846	+	Silent	SNP	C	C	T	rs370801060		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:45974846C>T	ENST00000260324.7	+	7	1421	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	SQRDL_ENST00000568606.1_Silent_p.T345T	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	345					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CGTCAAAGACCGCTGCTGCAG	0.478																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(1033-1035)acC>acT		sulfide quinone reductase-like (yeast)		C		0,4396		0,0,2198	120.0	105.0	110.0		1035	-11.8	0.1	15		110	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	SQRDL	NM_021199.2		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		345/451	45974846	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	58472						oxidoreductase activity	g.chr15:45974846C>T	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.1035C>T	15.37:g.45974846C>T						SQRDL_ENST00000568606.1_Silent_p.T345T	p.T345T	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	7	1421	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	345					Q9UQM8	Silent	SNP	ENST00000260324.7	37	c.1035C>T	CCDS10127.1																																																																																				0.478	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			51	76	0	0	0	1	0	51	76				
CACNA1I	8911	broad.mit.edu	37	22	40043868	40043868	+	Missense_Mutation	SNP	G	G	A	rs576135220	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40043868G>A	ENST00000402142.3	+	9	1504	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R	CACNA1I_ENST00000404898.1_Intron|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G502R|CACNA1I_ENST00000407673.1_Intron|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000336649.4_Missense_Mutation_p.G502R	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	502					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	gaGACATCTCGGAAGCCGGCA	0.562													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18476	0.0		0.0	False		,,,				2504	0.0					ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1504-1506)Gga>Aga		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						64.0	68.0	66.0					22																	40043868		1924	4111	6035	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40043868G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1504G>A	22.37:g.40043868G>A	ENSP00000385019:p.Gly502Arg					CACNA1I_ENST00000407673.1_Intron|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G502R|CACNA1I_ENST00000404898.1_Intron|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G502R	p.G502R			Q9P0X4	CAC1I_HUMAN			11	1504	+	Melanoma(58;0.0749)		502					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.1504G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	0.068	-1.207706	0.01568	.	.	ENSG00000100346	ENST00000402142;ENST00000401624;ENST00000336649	D;D;D	0.96651	-4.04;-4.02;-4.08	2.46	-4.92	0.03075	.	87.374900	0.00166	U	0.000003	D	0.87577	0.6212	N	0.04132	-0.27	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.79732	-0.1680	10	0.48119	T	0.1	.	1.2994	0.02076	0.2648:0.1786:0.3809:0.1757	.	502;502	Q9P0X4-2;Q9P0X4	.;CAC1I_HUMAN	R	502	ENSP00000385019:G502R;ENSP00000383887:G502R;ENSP00000337829:G502R	ENSP00000337829:G502R	G	+	1	0	CACNA1I	38373814	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.092000	0.11129	-1.466000	0.01897	-2.010000	0.00438	GGA		0.562	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		29	66	0	0	0	1	0	29	66				
DEAF1	10522	broad.mit.edu	37	11	654033	654033	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:654033C>T	ENST00000382409.3	-	11	2006	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.G433S	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	508					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCCTCCCGGCCGCAGTTAACG	0.622																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1522-1524)Ggc>Agc		DEAF1 transcription factor							126.0	96.0	106.0					11																	654033		2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:654033C>T	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.1522G>A	11.37:g.654033C>T	ENSP00000371846:p.Gly508Ser					DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.G433S	p.G508S	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	11	2006	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	508					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.1522G>A	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449428	0.84101	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.70282	-0.47	3.49	3.49	0.39957	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.81527	0.4841	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.64877	0.93	D	0.84522	0.0628	10	0.66056	D	0.02	-34.81	14.2996	0.66336	0.0:1.0:0.0:0.0	.	508	O75398	DEAF1_HUMAN	S	508;433;494;431	ENSP00000371846:G508S	ENSP00000341902:G433S	G	-	1	0	DEAF1	644033	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.167000	0.77562	1.971000	0.57363	0.455000	0.32223	GGC		0.622	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		12	53	0	0	0	1	0	12	53				
ZNF143	7702	broad.mit.edu	37	11	9522711	9522711	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:9522711C>T	ENST00000396602.2	+	11	1160	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	ZNF143_ENST00000396604.1_Silent_p.H346H|ZNF143_ENST00000530463.1_Silent_p.H346H|ZNF143_ENST00000299606.2_Silent_p.H319H|ZNF143_ENST00000396597.3_Silent_p.H316H	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	347					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GAAAAGTGCACGTTAGGACAC	0.433																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1039-1041)caC>caT		zinc finger protein 143							140.0	132.0	135.0					11																	9522711		2201	4294	6495	SO:0001819	synonymous_variant	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9522711C>T	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1041C>T	11.37:g.9522711C>T						ZNF143_ENST00000299606.2_Silent_p.H319H|ZNF143_ENST00000530463.1_Silent_p.H346H|ZNF143_ENST00000396604.1_Silent_p.H346H|ZNF143_ENST00000396597.3_Silent_p.H316H	p.H347H	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	11	1160	+			347					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Silent	SNP	ENST00000396602.2	37	c.1041C>T	CCDS7799.2																																																																																				0.433	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		55	115	0	0	0	1	0	55	115				
CHD2	1106	broad.mit.edu	37	15	93489391	93489391	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:93489391T>C	ENST00000394196.4	+	12	2390	c.1322T>C	c.(1321-1323)aTt>aCt	p.I441T	CHD2_ENST00000536619.1_Missense_Mutation_p.I454T|CHD2_ENST00000420239.2_Missense_Mutation_p.I441T|CHD2_ENST00000557381.1_Missense_Mutation_p.I441T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	441	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CAGAATTGCATTGACAGCTTC	0.418																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(1321-1323)aTt>aCt		chromodomain helicase DNA binding protein 2							85.0	86.0	86.0					15																	93489391		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93489391T>C	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1322T>C	15.37:g.93489391T>C	ENSP00000377747:p.Ile441Thr					CHD2_ENST00000536619.1_Missense_Mutation_p.I454T|CHD2_ENST00000557381.1_Missense_Mutation_p.I441T|CHD2_ENST00000420239.2_Missense_Mutation_p.I441T	p.I441T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		12	2390	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		441			Chromo 2.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.1322T>C	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357829	0.82243	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.57	5.57	0.84162	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.34507	U	0.003915	D	0.89787	0.6816	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	0.994;0.997;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.91398	0.5141	10	0.62326	D	0.03	-12.4802	16.0216	0.80499	0.0:0.0:0.0:1.0	.	454;441;441	B7Z3I4;O14647;O14647-2	.;CHD2_HUMAN;.	T	441;441;441;454	ENSP00000377747:I441T;ENSP00000451366:I441T;ENSP00000406581:I441T;ENSP00000443618:I454T	ENSP00000311700:I179T	I	+	2	0	CHD2	91290395	1.000000	0.71417	0.996000	0.52242	0.607000	0.37147	7.698000	0.84413	2.242000	0.73789	0.533000	0.62120	ATT		0.418	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		49	67	0	0	0	1	0	49	67				
TDRD9	122402	broad.mit.edu	37	14	104490932	104490932	+	Missense_Mutation	SNP	C	C	T	rs139118201	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:104490932C>T	ENST00000409874.4	+	25	2681	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	TDRD9_ENST00000339063.5_Missense_Mutation_p.T878M	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	878					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAGAAGCAGACGGTAGATCCT	0.343													C|||	2	0.000399361	0.0	0.0	5008	,	,		16555	0.002		0.0	False		,,,				2504	0.0					ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(2632-2634)aCg>aTg		tudor domain containing 9							150.0	136.0	141.0					14																	104490932		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104490932C>T	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2633C>T	14.37:g.104490932C>T	ENSP00000387303:p.Thr878Met					TDRD9_ENST00000339063.5_Missense_Mutation_p.T878M	p.T878M	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			25	2681	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	878					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.2633C>T	CCDS9987.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	17.96	3.515343	0.64634	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.03553	3.89;3.91	5.47	4.58	0.56647	.	0.087183	0.48767	D	0.000176	T	0.03178	0.0093	L	0.29908	0.895	0.49915	D	0.999835	P;P	0.44139	0.827;0.729	B;B	0.34418	0.182;0.053	T	0.57051	-0.7877	10	0.44086	T	0.13	.	13.6597	0.62359	0.0:0.9256:0.0:0.0744	.	878;878	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	M	878	ENSP00000387303:T878M;ENSP00000343545:T878M	ENSP00000343545:T878M	T	+	2	0	TDRD9	103560685	0.950000	0.32346	0.955000	0.39395	0.892000	0.51952	2.049000	0.41288	2.573000	0.86826	0.563000	0.77884	ACG		0.343	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		38	26	0	0	0	1	0	38	26				
PITPNM2	57605	broad.mit.edu	37	12	123479976	123479976	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123479976C>T	ENST00000542749.1	-	12	2077	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	PITPNM2_ENST00000392428.1_Missense_Mutation_p.E393K|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E672K|PITPNM2_ENST00000280562.5_Missense_Mutation_p.E672K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	672					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTATCCAGCTCGTAGGTGGAT	0.647																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2014-2016)Gag>Aag		phosphatidylinositol transfer protein, membrane-associated 2							71.0	79.0	76.0					12																	123479976		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123479976C>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2014G>A	12.37:g.123479976C>T	ENSP00000437611:p.Glu672Lys					PITPNM2_ENST00000392428.1_Missense_Mutation_p.E393K|PITPNM2_ENST00000542749.1_Missense_Mutation_p.E672K|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E672K	p.E672K			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	13	2219	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		672					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.2014G>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496698	0.85069	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.48836	1.16;1.11;0.8;1.11	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.60051	0.2239	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.994;0.999	P;P	0.60789	0.746;0.879	T	0.55811	-0.8082	10	0.16896	T	0.51	-35.8461	17.4891	0.87698	0.0:1.0:0.0:0.0	.	672;672	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	K	672;672;393;672	ENSP00000280562:E672K;ENSP00000322218:E672K;ENSP00000376223:E393K;ENSP00000437611:E672K	ENSP00000280562:E672K	E	-	1	0	PITPNM2	122045929	1.000000	0.71417	0.976000	0.42696	0.446000	0.32137	7.473000	0.81007	2.128000	0.65567	0.561000	0.74099	GAG		0.647	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		27	124	0	0	0	1	0	27	124				
HK2	3099	broad.mit.edu	37	2	75107689	75107689	+	Silent	SNP	C	C	T	rs144796715		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:75107689C>T	ENST00000290573.2	+	10	2163	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D	HK2_ENST00000409174.1_Silent_p.D493D	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	521	Catalytic.|Hexokinase type-1 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACCCCGGACGGCACAGGTA	0.577																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(1561-1563)gaC>gaT		hexokinase 2		C		1,4405	2.1+/-5.4	0,1,2202	50.0	49.0	49.0		1563	-0.3	1.0	2	dbSNP_134	49	1,8599		0,1,4299	no	coding-synonymous	HK2	NM_000189.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		521/918	75107689	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75107689C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1563C>T	2.37:g.75107689C>T						HK2_ENST00000409174.1_Silent_p.D493D	p.D521D	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			10	2163	+			521			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Silent	SNP	ENST00000290573.2	37	c.1563C>T	CCDS1956.1																																																																																				0.577	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		9	31	0	0	0	1	0	9	31				
TCN1	6947	broad.mit.edu	37	11	59623424	59623424	+	Silent	SNP	G	G	A	rs72550759	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:59623424G>A	ENST00000257264.3	-	6	959	c.855C>T	c.(853-855)aaC>aaT	p.N285N	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	285	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGCTGCAGCGTTTGGATTGC	0.413													g|||	3	0.000599042	0.0	0.0014	5008	,	,		17603	0.0		0.002	False		,,,				2504	0.0					ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(853-855)aaC>aaT		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)			0,4402		0,0,2201	133.0	133.0	133.0		855	-0.9	0.1	11	dbSNP_130	133	7,8583	5.7+/-21.5	0,7,4288	no	coding-synonymous	TCN1	NM_001062.3		0,7,6489	AA,AG,GG		0.0815,0.0,0.0539		285/434	59623424	7,12985	2201	4295	6496	SO:0001819	synonymous_variant	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59623424G>A	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.855C>T	11.37:g.59623424G>A						TCN1_ENST00000532419.1_Intron	p.N285N	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			6	959	-		all_epithelial(135;0.198)	285					A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	c.855C>T	CCDS7978.1																																																																																				0.413	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		5	126	0	0	0	1	0	5	126				
CARD6	84674	broad.mit.edu	37	5	40854138	40854138	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:40854138G>C	ENST00000254691.5	+	3	2903	c.2704G>C	c.(2704-2706)Gca>Cca	p.A902P	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	902					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTTCAACCAGCAGCAGCCAC	0.483																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2704-2706)Gca>Cca		caspase recruitment domain family, member 6							84.0	90.0	88.0					5																	40854138		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854138G>C	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2704G>C	5.37:g.40854138G>C	ENSP00000254691:p.Ala902Pro					CARD6_ENST00000381677.3_Intron	p.A902P	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	2903	+			902					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2704G>C	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260415	0.80246	.	.	ENSG00000132357	ENST00000254691	T	0.13196	2.61	4.05	2.22	0.28083	.	0.281128	0.25768	N	0.028432	T	0.15262	0.0368	L	0.27053	0.805	0.26906	N	0.967012	D	0.64830	0.994	P	0.55824	0.785	T	0.04320	-1.0960	10	0.56958	D	0.05	-3.628	6.8707	0.24119	0.2197:0.0:0.7803:0.0	.	902	Q9BX69	CARD6_HUMAN	P	902	ENSP00000254691:A902P	ENSP00000254691:A902P	A	+	1	0	CARD6	40889895	0.000000	0.05858	0.838000	0.33150	0.789000	0.44602	-0.487000	0.06505	0.459000	0.27016	0.313000	0.20887	GCA		0.483	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			73	119	0	0	0	1	0	73	119				
ZNF559	84527	broad.mit.edu	37	19	9453655	9453655	+	Nonsense_Mutation	SNP	C	C	T	rs147456906	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:9453655C>T	ENST00000393883.2	+	6	2176	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Nonsense_Mutation_p.R430*|ZNF559_ENST00000603380.1_Nonsense_Mutation_p.R510*|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Nonsense_Mutation_p.R574*	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATATCTTATTCGACATCTAAG	0.438													c|||	14	0.00279553	0.0	0.0	5008	,	,		23333	0.0139		0.0	False		,,,				2504	0.0					ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(1528-1530)Cga>Tga		zinc finger protein 559							109.0	102.0	105.0					19																	9453655		2203	4300	6503	SO:0001587	stop_gained	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453655C>T	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1528C>T	19.37:g.9453655C>T	ENSP00000377461:p.Arg510*					ZNF559_ENST00000603380.1_Nonsense_Mutation_p.R510*|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000538743.1_Nonsense_Mutation_p.R430*|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000587557.1_Nonsense_Mutation_p.R574*|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000586255.1_Intron	p.R510*	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN			6	2176	+			510					K7EMG6	Nonsense_Mutation	SNP	ENST00000393883.2	37	c.1528C>T	CCDS12211.1	10	0.004578754578754579	0	0.0	0	0.0	10	0.017482517482517484	0	0.0	c	15.37	2.813366	0.50527	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	.	.	.	2.22	-4.44	0.03557	.	.	.	.	.	.	.	.	.	.	.	0.42382	D	0.992491	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	1.6706	0.02810	0.2717:0.3971:0.0979:0.2333	.	.	.	.	X	510;430;510	.	ENSP00000325393:R510X	R	+	1	2	ZNF559	9314655	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-7.762000	0.00030	-4.640000	0.00038	-0.642000	0.03964	CGA		0.438	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		35	90	0	0	0	1	0	35	90				
SRBD1	55133	broad.mit.edu	37	2	45812861	45812861	+	Missense_Mutation	SNP	C	C	T	rs145594682		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:45812861C>T	ENST00000263736.4	-	5	763	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	234					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATTAAAGAGACGAATGATGTT	0.323													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18524	0.0		0.0	False		,,,				2504	0.0					ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(700-702)cGt>cAt		S1 RNA binding domain 1		C	HIS/ARG	0,4406		0,0,2203	107.0	111.0	110.0		701	5.0	1.0	2	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SRBD1	NM_018079.4	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	234/996	45812861	2,13004	2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45812861C>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.701G>A	2.37:g.45812861C>T	ENSP00000263736:p.Arg234His						p.R234H	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		5	763	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	234					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.701G>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482425	0.63962	0.0	2.33E-4	ENSG00000068784	ENST00000263736	T	0.43688	0.94	5.04	5.04	0.67666	Tex-like protein, N-terminal (1);Tex-like protein, HTH domain (1);	0.222994	0.32258	N	0.006344	T	0.47469	0.1447	M	0.61703	1.905	0.80722	D	1	D	0.59767	0.986	P	0.48901	0.594	T	0.51490	-0.8699	10	0.72032	D	0.01	.	11.6421	0.51240	0.0:0.9181:0.0:0.0819	.	234	Q8N5C6	SRBD1_HUMAN	H	234	ENSP00000263736:R234H	ENSP00000263736:R234H	R	-	2	0	SRBD1	45666365	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	1.261000	0.32980	2.615000	0.88500	0.557000	0.71058	CGT		0.323	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		31	81	0	0	0	1	0	31	81				
ABHD16B	140701	broad.mit.edu	37	20	62493215	62493215	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62493215C>T	ENST00000369916.3	+	1	650	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	C20ORF135_ENST00000601296.1_Silent_p.A1A	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	108							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						CTCGCTGGGCCGCTGGCTCGT	0.741																																						ENST00000369916.3																			0				endometrium(2)|kidney(1)|lung(3)	6						c.(322-324)Cgc>Tgc		abhydrolase domain containing 16B							3.0	4.0	4.0					20																	62493215		1577	3253	4830	SO:0001583	missense	140701						hydrolase activity	g.chr20:62493215C>T		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.322C>T	20.37:g.62493215C>T	ENSP00000358932:p.Arg108Cys					C20ORF135_ENST00000601296.1_Silent_p.A1A	p.R108C	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN			1	650	+			108						Missense_Mutation	SNP	ENST00000369916.3	37	c.322C>T	CCDS13539.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080288	0.55753	.	.	ENSG00000183260	ENST00000369916	T	0.51325	0.71	4.44	4.44	0.53790	.	0.000000	0.85682	U	0.000000	T	0.57932	0.2087	M	0.75777	2.31	0.80722	D	1	D	0.61080	0.989	P	0.50754	0.649	T	0.64508	-0.6391	10	0.52906	T	0.07	-10.0517	14.578	0.68265	0.0:1.0:0.0:0.0	.	108	Q9H3Z7	ABHGB_HUMAN	C	108	ENSP00000358932:R108C	ENSP00000358932:R108C	R	+	1	0	ABHD16B	61963659	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	2.764000	0.47613	2.023000	0.59567	0.591000	0.81541	CGC		0.741	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			12	10	0	0	0	1	0	12	10				
NCCRP1	342897	broad.mit.edu	37	19	39691350	39691350	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39691350G>A	ENST00000339852.4	+	6	804	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	261	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGGCTGCGGCGGACACGGGTG	0.632																																					Melanoma(107;1207 1556 14956 29427 52130)	ENST00000339852.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(781-783)cGg>cAg		non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)							178.0	170.0	172.0					19																	39691350		2203	4300	6503	SO:0001583	missense	342897				protein catabolic process			g.chr19:39691350G>A	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.782G>A	19.37:g.39691350G>A	ENSP00000342137:p.Arg261Gln						p.R261Q	NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN			6	804	+			261			FBA.		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.782G>A	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490394	0.44249	.	.	ENSG00000188505	ENST00000339852	T	0.29655	1.56	4.96	3.91	0.45181	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.486350	0.21241	N	0.077801	T	0.23965	0.0580	L	0.45581	1.43	0.35047	D	0.760259	P	0.48294	0.908	B	0.36335	0.222	T	0.37842	-0.9688	10	0.45353	T	0.12	-24.0817	11.4656	0.50237	0.0899:0.0:0.9101:0.0	.	261	Q6ZVX7	NCRP1_HUMAN	Q	261	ENSP00000342137:R261Q	ENSP00000342137:R261Q	R	+	2	0	NCCRP1	44383190	0.997000	0.39634	0.940000	0.37924	0.053000	0.15095	3.904000	0.56325	1.091000	0.41335	0.484000	0.47621	CGG		0.632	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		196	246	0	0	0	1	0	196	246				
RABGGTA	5875	broad.mit.edu	37	14	24737796	24737796	+	Silent	SNP	G	G	A	rs370715682		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24737796G>A	ENST00000399409.3	-	9	1413	c.930C>T	c.(928-930)aaC>aaT	p.N310N	RABGGTA_ENST00000216840.6_Silent_p.N310N|RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000559586.1_5'Flank	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	310					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCAACTGGTCGTTGAGGGAGG	0.552																																						ENST00000399409.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(928-930)aaC>aaT		Rab geranylgeranyltransferase, alpha subunit		G	,	0,4152		0,0,2076	89.0	94.0	93.0		930,930	-0.2	1.0	14		93	1,8411		0,1,4205	no	coding-synonymous,coding-synonymous	RABGGTA	NM_004581.3,NM_182836.1	,	0,1,6281	AA,AG,GG		0.0119,0.0,0.0080	,	310/568,310/568	24737796	1,12563	2076	4206	6282	SO:0001819	synonymous_variant	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24737796G>A		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.930C>T	14.37:g.24737796G>A						RABGGTA_ENST00000216840.6_Silent_p.N310N|RABGGTA_ENST00000560777.1_Intron	p.N310N	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	9	1413	-			310					A8K5N2|D3DS69	Silent	SNP	ENST00000399409.3	37	c.930C>T	CCDS45088.1																																																																																				0.552	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		46	21	0	0	0	1	0	46	21				
ODC1	4953	broad.mit.edu	37	2	10582006	10582006	+	Silent	SNP	G	G	A	rs548861296	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:10582006G>A	ENST00000234111.4	-	10	1473	c.963C>T	c.(961-963)ggC>ggT	p.G321G	ODC1_ENST00000405333.1_Silent_p.G321G|ODC1_ENST00000446285.1_5'Flank	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	321					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	ATCCATAGACGCCATCATTCA	0.378													G|||	3	0.000599042	0.0	0.0	5008	,	,		22276	0.0		0.0	False		,,,				2504	0.0031					ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(961-963)ggC>ggT		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						175.0	169.0	171.0					2																	10582006		2203	4300	6503	SO:0001819	synonymous_variant	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10582006G>A		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.963C>T	2.37:g.10582006G>A						ODC1_ENST00000405333.1_Silent_p.G321G	p.G321G	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	10	1473	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		321					Q53TU3|Q6LDS9	Silent	SNP	ENST00000234111.4	37	c.963C>T	CCDS1672.1																																																																																				0.378	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			34	236	0	0	0	1	0	34	236				
GGN	199720	broad.mit.edu	37	19	38876366	38876366	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38876366G>A	ENST00000334928.6	-	3	1668	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	512	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gtgcgggcgcggacacaggcg	0.746																																						ENST00000334928.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1534-1536)tcC>tcT		gametogenetin							9.0	10.0	10.0					19																	38876366		2107	4124	6231	SO:0001819	synonymous_variant	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38876366G>A	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1536C>T	19.37:g.38876366G>A						GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	p.S512S	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	1668	-	all_cancers(60;3.4e-06)		512			Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	ENST00000334928.6	37	c.1536C>T	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	6.146	0.395081	0.11638	.	.	ENSG00000179168	ENST00000392116	.	.	.	2.14	-4.28	0.03732	.	.	.	.	.	T	0.25644	0.0624	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.37430	-0.9706	5	0.62326	D	0.03	.	1.243	0.01967	0.162:0.3835:0.2544:0.2	.	.	.	.	C	199	.	ENSP00000375963:R199C	R	-	1	0	GGN	43568206	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-3.484000	0.00455	-0.668000	0.05296	0.400000	0.26472	CGC		0.746	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		28	26	0	0	0	1	0	28	26				
ARHGEF9	23229	broad.mit.edu	37	X	62857963	62857963	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:62857963C>T	ENST00000253401.6	-	10	2296	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R446H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.R226H|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R397H|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R478H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	499					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R497H(2)|p.R499H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGACTGGCTGCGCTTGGGTTC	0.493																																						ENST00000253401.6																			3	Substitution - Missense(3)	p.R497H(2)|p.R499H(1)	lung(2)|large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(1495-1497)cGc>cAc		Cdc42 guanine nucleotide exchange factor (GEF) 9							72.0	62.0	65.0					X																	62857963		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62857963C>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1496G>A	X.37:g.62857963C>T	ENSP00000253401:p.Arg499His					ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R446H|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.R226H|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R397H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R478H	p.R499H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			10	2296	-			499					A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.1496G>A	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645618	0.87958	.	.	ENSG00000131089	ENST00000253401;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	T;T;T;T;T	0.76968	-0.91;-1.06;-0.77;-0.61;-1.0	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	L	0.56199	1.76	0.54753	D	0.999989	D;D;D	0.89917	1.0;0.998;0.997	P;P;P	0.62435	0.902;0.902;0.861	D	0.86055	0.1528	10	0.72032	D	0.01	.	16.5115	0.84287	0.0:1.0:0.0:0.0	.	446;499;499	B4DHC7;O43307;A8K1S8	.;ARHG9_HUMAN;.	H	499;446;397;226;478	ENSP00000253401:R499H;ENSP00000399994:R446H;ENSP00000364004:R397H;ENSP00000404478:R226H;ENSP00000364006:R478H	ENSP00000253401:R499H	R	-	2	0	ARHGEF9	62774688	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.271000	0.78506	2.205000	0.71048	0.429000	0.28392	CGC		0.493	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			7	14	0	0	0	1	0	7	14				
SIPA1L2	57568	broad.mit.edu	37	1	232574983	232574983	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:232574983G>A	ENST00000366630.1	-	14	4260	c.3902C>T	c.(3901-3903)gCc>gTc	p.A1301V	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A375V|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1301V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1301					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGAGACGTCGGCAGCATCAGC	0.667																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(3901-3903)gCc>gTc		signal-induced proliferation-associated 1 like 2							35.0	41.0	39.0					1																	232574983		2062	4202	6264	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232574983G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3902C>T	1.37:g.232574983G>A	ENSP00000355589:p.Ala1301Val					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1301V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A375V	p.A1301V			Q9P2F8	SI1L2_HUMAN			14	4260	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1301					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3902C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	6.001	0.368635	0.11352	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.78707	-1.2;-1.2;2.75	5.04	2.09	0.27110	.	0.565123	0.17668	N	0.166066	T	0.61652	0.2364	L	0.36672	1.1	0.25891	N	0.983476	B;B	0.34015	0.011;0.435	B;B	0.27500	0.01;0.08	T	0.45249	-0.9274	10	0.18276	T	0.48	-4.0131	8.9102	0.35548	0.0771:0.3134:0.6095:0.0	.	1301;375	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	V	1301;1301;375	ENSP00000355589:A1301V;ENSP00000262861:A1301V;ENSP00000309102:A375V	ENSP00000262861:A1301V	A	-	2	0	SIPA1L2	230641606	0.469000	0.25846	0.054000	0.19295	0.008000	0.06430	0.820000	0.27323	0.276000	0.22118	-0.176000	0.13171	GCC		0.667	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		12	137	0	0	0	1	0	12	137				
FBXL13	222235	broad.mit.edu	37	7	102669158	102669158	+	Missense_Mutation	SNP	C	C	T	rs147832645		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:102669158C>T	ENST00000313221.4	-	4	532	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	FBXL13_ENST00000436908.1_Missense_Mutation_p.V36I|RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000456695.1_Missense_Mutation_p.V36I|FBXL13_ENST00000379305.3_Missense_Mutation_p.V36I|FBXL13_ENST00000455112.2_Missense_Mutation_p.V36I|FBXL13_ENST00000379306.3_Missense_Mutation_p.V36I|FBXL13_ENST00000393772.2_Missense_Mutation_p.V36I|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.V36I	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	36								p.V36F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCAGCCAGGACGACATTTTCA	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		15610	0.0		0.0	False		,,,				2504	0.001					ENST00000393772.2																			1	Substitution - Missense(1)	p.V36F(1)	lung(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(106-108)Gtc>Atc		F-box and leucine-rich repeat protein 13		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	100.0	91.0	94.0		106,106	-3.0	0.0	7	dbSNP_134	94	5,8593	4.3+/-15.6	0,5,4294	yes	missense,missense	FBXL13	NM_001111038.1,NM_145032.3	29,29	0,5,6497	TT,TC,CC		0.0582,0.0,0.0384	benign,benign	36/691,36/736	102669158	5,12999	2203	4299	6502	SO:0001583	missense	222235							g.chr7:102669158C>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.106G>A	7.37:g.102669158C>T	ENSP00000321927:p.Val36Ile					FBXL13_ENST00000379306.3_Missense_Mutation_p.V36I|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.V36I|FBXL13_ENST00000436908.1_Missense_Mutation_p.V36I|FBXL13_ENST00000379305.3_Missense_Mutation_p.V36I|FBXL13_ENST00000379308.3_Missense_Mutation_p.V36I|FBXL13_ENST00000313221.4_Missense_Mutation_p.V36I|FBXL13_ENST00000456695.1_Missense_Mutation_p.V36I	p.V36I			Q8NEE6	FXL13_HUMAN			4	532	-			36					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.106G>A	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910513	0.17833	0.0	5.82E-4	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112;ENST00000440067	T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	3.94	-2.96	0.05547	.	1.710430	0.03213	N	0.176408	T	0.12987	0.0315	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17471	-1.0368	10	0.09338	T	0.73	.	4.7978	0.13281	0.0:0.3225:0.3612:0.3163	.	36;36;36	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	I	36;36;36;36;36;36;36;36;126	ENSP00000377367:V36I;ENSP00000368610:V36I;ENSP00000368608:V36I;ENSP00000368607:V36I;ENSP00000388608:V36I;ENSP00000321927:V36I;ENSP00000409716:V36I;ENSP00000391550:V36I;ENSP00000390126:V126I	ENSP00000321927:V36I	V	-	1	0	FBXL13	102456394	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.503000	0.00965	-0.562000	0.06086	-0.384000	0.06662	GTC		0.343	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		29	41	0	0	0	1	0	29	41				
VMP1	81671	broad.mit.edu	37	17	57842391	57842391	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:57842391C>T	ENST00000262291.4	+	6	784	c.474C>T	c.(472-474)ccC>ccT	p.P158P	VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000545362.1_Intron|VMP1_ENST00000537567.1_Silent_p.P24P|VMP1_ENST00000536180.1_Silent_p.P61P	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	158					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TTAATTTTCCCGAACCACCCT	0.368																																						ENST00000262291.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(472-474)ccC>ccT		vacuole membrane protein 1							122.0	118.0	119.0					17																	57842391		2203	4300	6503	SO:0001819	synonymous_variant	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57842391C>T		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.474C>T	17.37:g.57842391C>T						VMP1_ENST00000537567.1_Silent_p.P24P|VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000545362.1_Intron|VMP1_ENST00000536180.1_Silent_p.P61P	p.P158P	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN			6	784	+			158					B4DVV9|Q9H0P4|Q9P089	Silent	SNP	ENST00000262291.4	37	c.474C>T	CCDS11619.1																																																																																				0.368	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		20	83	0	0	0	1	0	20	83				
ZCCHC6	79670	broad.mit.edu	37	9	88967854	88967854	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:88967854G>A	ENST00000375963.3	-	2	433	c.261C>T	c.(259-261)ccC>ccT	p.P87P	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Silent_p.P87P|ZCCHC6_ENST00000375947.1_5'Flank|ZCCHC6_ENST00000375960.2_Silent_p.P87P	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	87					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCATCCAAGCGGGTTGACTGT	0.433																																						ENST00000375961.2																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(259-261)ccC>ccT		zinc finger, CCHC domain containing 6							177.0	169.0	172.0					9																	88967854		2203	4300	6503	SO:0001819	synonymous_variant	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88967854G>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.261C>T	9.37:g.88967854G>A						ZCCHC6_ENST00000375960.2_Silent_p.P87P|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Silent_p.P87P	p.P87P			Q5VYS8	TUT7_HUMAN			2	475	-			87					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	ENST00000375963.3	37	c.261C>T	CCDS35057.1																																																																																				0.433	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		94	184	0	0	0	1	0	94	184				
KRTAP4-11	653240	broad.mit.edu	37	17	39274307	39274307	+	Silent	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:39274307G>T	ENST00000391413.2	-	1	299	c.261C>A	c.(259-261)ccC>ccA	p.P87P		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	87	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGCAGCACTGGGGCTTGCAGC	0.657																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(259-261)ccC>ccA		keratin associated protein 4-11							5.0	10.0	8.0					17																	39274307		640	1535	2175	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274307G>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.261C>A	17.37:g.39274307G>T							p.P87P	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	299	-		Breast(137;0.000496)	87			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.261C>A	CCDS45675.1																																																																																				0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			17	88	1	0	7.45023e-12	1	7.62735e-12	17	88				
CIT	11113	broad.mit.edu	37	12	120128190	120128190	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120128190C>T	ENST00000261833.7	-	46	5878	c.5826G>A	c.(5824-5826)gcG>gcA	p.A1942A	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.A1984A	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1942					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTTCGGGCGGCGCTGGGCTGG	0.706																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(5950-5952)gcG>gcA		citron (rho-interacting, serine/threonine kinase 21)							16.0	17.0	16.0					12																	120128190		2197	4287	6484	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120128190C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5826G>A	12.37:g.120128190C>T						CIT_ENST00000261833.7_Silent_p.A1942A|CIT_ENST00000537607.1_5'UTR	p.A1984A	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	47	6007	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1942					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.5952G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	8.671	0.902838	0.17760	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.4	-6.67	0.01783	.	.	.	.	.	T	0.49304	0.1549	.	.	.	0.37064	D	0.898226	.	.	.	.	.	.	T	0.55471	-0.8136	4	.	.	.	.	9.6225	0.39730	0.0:0.351:0.2933:0.3557	.	.	.	.	H	1555	.	.	R	-	2	0	CIT	118612573	0.001000	0.12720	0.128000	0.21923	0.803000	0.45373	-1.637000	0.02015	-0.978000	0.03533	-0.175000	0.13238	CGC		0.706	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		13	22	0	0	0	1	0	13	22				
KCNJ12	3768	broad.mit.edu	37	17	21319341	21319341	+	Silent	SNP	C	C	T	rs569037483	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:21319341C>T	ENST00000583088.1	+	3	1582	c.687C>T	c.(685-687)cgC>cgT	p.R229R	KCNJ12_ENST00000331718.5_Silent_p.R229R	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	229					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R229R(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCCATGTGCGCGCGCAGCTCA	0.642										Prostate(3;0.18)			.|||	4	0.000798722	0.0	0.0	5008	,	,		38914	0.004		0.0	False		,,,				2504	0.0					ENST00000583088.1																			2	Substitution - coding silent(2)	p.R229R(2)	breast(1)|endometrium(1)	NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(685-687)cgC>cgT		potassium inwardly-rectifying channel, subfamily J, member 12							87.0	70.0	76.0					17																	21319341		2203	4300	6503	SO:0001819	synonymous_variant	3768							g.chr17:21319341C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.687C>T	17.37:g.21319341C>T		Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Silent_p.R229R	p.R229R	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1582	+								O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.687C>T	CCDS11219.1																																																																																				0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		28	65	0	0	0	1	0	28	65				
RAB26	25837	broad.mit.edu	37	16	2202854	2202854	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2202854C>T	ENST00000210187.6	+	6	662	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	SNORD60_ENST00000383903.1_RNA|TRAF7_ENST00000326181.6_5'Flank|RAB26_ENST00000541451.1_Missense_Mutation_p.H102Y|RP11-304L19.5_ENST00000563192.1_lincRNA	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	168					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(3)	5						GTACGCCCAGCACGACGTGGC	0.687																																						ENST00000210187.6																			0				kidney(1)|large_intestine(1)|lung(3)	5						c.(502-504)Cac>Tac		RAB26, member RAS oncogene family							29.0	29.0	29.0					16																	2202854		2193	4288	6481	SO:0001583	missense	25837				exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding	g.chr16:2202854C>T	AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"""RAB, member RAS oncogene"""	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.502C>T	16.37:g.2202854C>T	ENSP00000210187:p.His168Tyr					RAB26_ENST00000541451.1_Missense_Mutation_p.H102Y	p.H168Y	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN			6	662	+			168					B2RAA6|Q3L6K5|Q6NXS7	Missense_Mutation	SNP	ENST00000210187.6	37	c.502C>T	CCDS10460.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331046	0.24167	.	.	ENSG00000167964	ENST00000541451;ENST00000210187	T;T	0.76709	-1.04;-1.04	3.96	0.348	0.16026	Small GTP-binding protein domain (1);	0.554687	0.17044	N	0.189183	T	0.60038	0.2238	N	0.22421	0.69	0.22050	N	0.999399	B	0.17465	0.022	B	0.14578	0.011	T	0.53620	-0.8413	10	0.87932	D	0	.	5.8803	0.18852	0.3208:0.3631:0.3161:0.0	.	168	Q9ULW5	RAB26_HUMAN	Y	102;168	ENSP00000441580:H102Y;ENSP00000210187:H168Y	ENSP00000210187:H168Y	H	+	1	0	RAB26	2142855	0.000000	0.05858	0.600000	0.28864	0.542000	0.35054	-1.139000	0.03213	0.306000	0.22856	0.313000	0.20887	CAC		0.687	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250767.2			17	47	0	0	0	1	0	17	47				
PAPPA	5069	broad.mit.edu	37	9	119097282	119097282	+	Silent	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:119097282C>A	ENST00000328252.3	+	13	3909	c.3540C>A	c.(3538-3540)tcC>tcA	p.S1180S	PAPPA_ENST00000534838.1_Silent_p.S218S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1180					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCTCCGTTCCTTCGACAACT	0.642																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3538-3540)tcC>tcA		pregnancy-associated plasma protein A, pappalysin 1							104.0	90.0	94.0					9																	119097282		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119097282C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3540C>A	9.37:g.119097282C>A						PAPPA_ENST00000534838.1_Silent_p.S218S	p.S1180S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			13	3909	+			1180					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.3540C>A	CCDS6813.1																																																																																				0.642	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		62	119	1	0	4.46356e-37	1	4.61078e-37	62	119				
CACNA1H	8912	broad.mit.edu	37	16	1250283	1250283	+	Silent	SNP	G	G	A	rs374861940		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1250283G>A	ENST00000348261.5	+	7	1079	c.831G>A	c.(829-831)ccG>ccA	p.P277P	CACNA1H_ENST00000565831.1_Silent_p.P277P|CACNA1H_ENST00000358590.4_Silent_p.P277P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	277					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TCCTGCGGCCGTACTACCAGA	0.632																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(829-831)ccG>ccA		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						31.0	31.0	31.0					16																	1250283		2098	4200	6298	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1250283G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.831G>A	16.37:g.1250283G>A						CACNA1H_ENST00000565831.1_Silent_p.P277P|CACNA1H_ENST00000358590.4_Silent_p.P277P	p.P277P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			7	1079	+		Hepatocellular(780;0.00369)	277					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.831G>A	CCDS45375.1																																																																																				0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		3	25	0	0	0	1	0	3	25				
DYNLRB1	83658	broad.mit.edu	37	20	33122560	33122560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:33122560C>T	ENST00000357156.2	+	3	258	c.208C>T	c.(208-210)Cga>Tga	p.R70*	DYNLRB1_ENST00000417166.2_Nonsense_Mutation_p.R70*|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000374846.3_Nonsense_Mutation_p.R122*	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	70					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						CACCTTCCTTCGAATTCGCTC	0.537																																						ENST00000417166.2																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(208-210)Cga>Tga		dynein, light chain, roadblock-type 1							111.0	89.0	96.0					20																	33122560		2203	4300	6503	SO:0001587	stop_gained	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33122560C>T	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.208C>T	20.37:g.33122560C>T	ENSP00000349679:p.Arg70*					DYNLRB1_ENST00000374846.3_Nonsense_Mutation_p.R122*|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000357156.2_Nonsense_Mutation_p.R70*	p.R70*			Q9NP97	DLRB1_HUMAN			3	241	+			70					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Nonsense_Mutation	SNP	ENST00000357156.2	37	c.208C>T	CCDS13235.1	.	.	.	.	.	.	.	.	.	.	C	37	6.182305	0.97352	.	.	ENSG00000125971	ENST00000357156;ENST00000417166;ENST00000374846	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0706	18.2245	0.89913	0.0:1.0:0.0:0.0	.	.	.	.	X	70;70;122	.	ENSP00000349679:R70X	R	+	1	2	DYNLRB1	32586221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.694000	0.61760	2.639000	0.89480	0.655000	0.94253	CGA		0.537	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183		45	58	0	0	0	1	0	45	58				
AIM1L	55057	broad.mit.edu	37	1	26650748	26650748	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26650748C>T	ENST00000308182.5	-	17	1926	c.1497G>A	c.(1495-1497)gtG>gtA	p.V499V	AIM1L_ENST00000527815.1_Silent_p.V670V			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	499	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CATGGTCCGGCACTGCCAGGA	0.617																																						ENST00000527815.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(2008-2010)gtG>gtA		absent in melanoma 1-like							60.0	54.0	56.0					1																	26650748		2203	4300	6503	SO:0001819	synonymous_variant	55057						sugar binding	g.chr1:26650748C>T			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1497G>A	1.37:g.26650748C>T						AIM1L_ENST00000308182.5_Silent_p.V499V	p.V670V	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	17	2059	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	499					B2RNG3|Q5T137|Q5T150	Silent	SNP	ENST00000308182.5	37	c.2010G>A																																																																																					0.617	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		5	98	0	0	0	1	0	5	98				
DHX37	57647	broad.mit.edu	37	12	125434988	125434988	+	Missense_Mutation	SNP	C	C	T	rs146274723	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:125434988C>T	ENST00000308736.2	-	23	3190	c.3092G>A	c.(3091-3093)cGg>cAg	p.R1031Q	DHX37_ENST00000544745.1_Missense_Mutation_p.R818Q	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1031							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		ACACAGCACCCGCCCCCGCTC	0.657													C|||	2	0.000399361	0.0	0.0014	5008	,	,		16103	0.0		0.001	False		,,,				2504	0.0					ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(3091-3093)cGg>cAg		DEAH (Asp-Glu-Ala-His) box polypeptide 37		C	GLN/ARG	3,4397		0,3,2197	24.0	24.0	24.0		3092	4.2	0.5	12	dbSNP_134	24	26,8572		0,26,4273	yes	missense	DHX37	NM_032656.3	43	0,29,6470	TT,TC,CC		0.3024,0.0682,0.2231	benign	1031/1158	125434988	29,12969	2200	4299	6499	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125434988C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3092G>A	12.37:g.125434988C>T	ENSP00000311135:p.Arg1031Gln					DHX37_ENST00000544745.1_Missense_Mutation_p.R818Q	p.R1031Q	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	23	3190	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1031					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.3092G>A	CCDS9261.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.18	1.278356	0.23307	6.82E-4	0.003024	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.02944	4.15;4.1	5.07	4.17	0.49024	.	0.149951	0.53938	N	0.000059	T	0.03783	0.0107	L	0.43152	1.355	0.42236	D	0.991916	B;B	0.22746	0.069;0.074	B;B	0.17722	0.019;0.005	T	0.44922	-0.9296	10	0.34782	T	0.22	12.7338	13.9079	0.63848	0.0:0.925:0.0:0.075	.	818;1031	F5H3Y4;Q8IY37	.;DHX37_HUMAN	Q	1031;818	ENSP00000311135:R1031Q;ENSP00000439009:R818Q	ENSP00000311135:R1031Q	R	-	2	0	DHX37	124000941	0.999000	0.42202	0.540000	0.28089	0.019000	0.09904	3.957000	0.56730	1.104000	0.41587	0.555000	0.69702	CGG		0.657	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		29	32	0	0	0	1	0	29	32				
PPP1R13L	10848	broad.mit.edu	37	19	45885827	45885827	+	Silent	SNP	C	C	T	rs377743128		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45885827C>T	ENST00000418234.2	-	12	2484	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A	PPP1R13L_ENST00000360957.5_Silent_p.A802A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	802	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A802A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGCCGTGCAGCGCGGCCCACC	0.697																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			1	Substitution - coding silent(1)	p.A802A(1)	lung(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2404-2406)gcG>gcA		protein phosphatase 1, regulatory subunit 13 like							43.0	44.0	43.0					19																	45885827		2202	4300	6502	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45885827C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2406G>A	19.37:g.45885827C>T						PPP1R13L_ENST00000360957.5_Silent_p.A802A	p.A802A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	12	2484	-		all_neural(266;0.224)|Ovarian(192;0.231)	802			SH3.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2406G>A	CCDS33050.1																																																																																				0.697	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		31	102	0	0	0	1	0	31	102				
MKL1	57591	broad.mit.edu	37	22	40803287	40803287	+	IGR	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40803287C>T	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Silent_p.R441R|SGSM3_ENST00000454798.2_Silent_p.R374R	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CCATCCTGCGCGTGGCACGCC	0.617			T	RBM15	acute megakaryocytic leukemia																																	ENST00000248929.9				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1321-1323)cgC>cgT		small G protein signaling modulator 3							52.0	53.0	53.0					22																	40803287		2203	4300	6503	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40803287C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40803287C>T						SGSM3_ENST00000454798.2_Silent_p.R374R	p.R441R	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			12	1512	+			441					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.1323C>T	CCDS14003.1																																																																																				0.617	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		43	85	0	0	0	1	0	43	85				
DDX19A	55308	broad.mit.edu	37	16	70400563	70400563	+	Silent	SNP	C	C	T	rs375391651		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:70400563C>T	ENST00000302243.7	+	9	982	c.819C>T	c.(817-819)tcC>tcT	p.S273S	DDX19A_ENST00000443119.2_Silent_p.S183S|DDX19A_ENST00000417604.2_Silent_p.S242S	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	273	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe. {ECO:0000250}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGCTTTTCTCCGCCACCTTTG	0.562																																						ENST00000302243.7																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11						c.(817-819)tcC>tcT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A		T		1,4395	825.2+/-416.5	0,1,2197	68.0	68.0	68.0		819	-3.9	1.0	16		68	0,8594		0,0,4297	no	coding-synonymous	DDX19A	NM_018332.3		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		273/479	70400563	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	55308							g.chr16:70400563C>T	AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.819C>T	16.37:g.70400563C>T						DDX19A_ENST00000443119.2_Silent_p.S183S|DDX19A_ENST00000417604.2_Silent_p.S242S	p.S273S	NM_018332.3	NP_060802.1					9	982	+		Ovarian(137;0.221)						B2RPL0|B4DRZ7|Q53FM0	Silent	SNP	ENST00000302243.7	37	c.819C>T	CCDS10889.1																																																																																				0.562	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		43	92	0	0	0	1	0	43	92				
COL6A1	1291	broad.mit.edu	37	21	47423450	47423450	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47423450C>T	ENST00000361866.3	+	35	2724	c.2610C>T	c.(2608-2610)gaC>gaT	p.D870D	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	870	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCCCACGACGTGCGGGTGG	0.711																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2608-2610)gaC>gaT		collagen, type VI, alpha 1	Palifermin(DB00039)						19.0	22.0	21.0					21																	47423450		2186	4272	6458	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423450C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2610C>T	21.37:g.47423450C>T						COL6A1_ENST00000498614.1_3'UTR	p.D870D	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	2724	+	all_hematologic(128;0.24)		870			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2610C>T	CCDS13727.1																																																																																				0.711	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		21	65	0	0	0	1	0	21	65				
FAM47A	158724	broad.mit.edu	37	X	34149532	34149532	+	Silent	SNP	G	G	A	rs375410896		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:34149532G>A	ENST00000346193.3	-	1	915	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	288										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGTGGGTTCGTCAGTTGTCT	0.577																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(862-864)gaC>gaT		family with sequence similarity 47, member A		G		0,3831		0,0,1630,571	25.0	26.0	26.0		864	-0.3	0.0	X		26	1,6725		0,1,2426,1872	no	coding-synonymous	FAM47A	NM_203408.3		0,1,4056,2443	AA,AG,GG,G		0.0149,0.0,0.0095		288/792	34149532	1,10556	2201	4299	6500	SO:0001819	synonymous_variant	158724							g.chrX:34149532G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.864C>T	X.37:g.34149532G>A							p.D288D	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	915	-			288					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.864C>T	CCDS43926.1																																																																																				0.577	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		13	29	0	0	0	1	0	13	29				
PPP6R2	9701	broad.mit.edu	37	22	50882544	50882544	+	Silent	SNP	C	C	T	rs201661469		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:50882544C>T	ENST00000216061.5	+	24	3220	c.2850C>T	c.(2848-2850)gaC>gaT	p.D950D	PPP6R2_ENST00000359139.3_Silent_p.D917D|PPP6R2_ENST00000395744.3_Silent_p.D916D|PPP6R2_ENST00000395741.3_Silent_p.D917D			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	950						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGACAAAGGACGGGTGAGCAG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12649	0.0		0.0	False		,,,				2504	0.0					ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(2749-2751)gaC>gaT		protein phosphatase 6, regulatory subunit 2		C	,,,	1,4405	2.1+/-5.4	0,1,2202	53.0	60.0	57.0		2829,2751,2751,2748	1.5	1.0	22		57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP6R2	NM_001242898.1,NM_001242899.1,NM_001242900.1,NM_014678.4	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	943/960,917/934,917/928,916/933	50882544	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50882544C>T	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2850C>T	22.37:g.50882544C>T						PPP6R2_ENST00000395741.3_Silent_p.D917D|PPP6R2_ENST00000395744.3_Silent_p.D916D|PPP6R2_ENST00000216061.5_Silent_p.D950D	p.D917D	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			22	3145	+			950					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.2751C>T																																																																																					0.667	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		44	98	0	0	0	1	0	44	98				
ITGA7	3679	broad.mit.edu	37	12	56094110	56094110	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56094110G>A	ENST00000555728.1	-	5	766	c.738C>T	c.(736-738)taC>taT	p.Y246Y	ITGA7_ENST00000553804.1_Silent_p.Y246Y|ITGA7_ENST00000394230.2_Silent_p.Y246Y|ITGA7_ENST00000452168.2_Silent_p.Y149Y|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000257880.7_Silent_p.Y246Y|ITGA7_ENST00000394229.2_Intron|ITGA7_ENST00000257879.6_Intron			Q13683	ITA7_HUMAN	integrin, alpha 7	246					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCCGCCTCGTAGGGACCGT	0.662																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(736-738)taC>taT		integrin, alpha 7							40.0	39.0	39.0					12																	56094110		1568	3582	5150	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56094110G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.738C>T	12.37:g.56094110G>A						ITGA7_ENST00000452168.2_Silent_p.Y149Y|ITGA7_ENST00000553804.1_Silent_p.Y246Y|ITGA7_ENST00000394230.2_Silent_p.Y246Y|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000394229.2_Intron|ITGA7_ENST00000555728.1_Silent_p.Y246Y	p.Y246Y			Q13683	ITA7_HUMAN			5	957	-			246					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.738C>T																																																																																					0.662	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		24	54	0	0	0	1	0	24	54				
AASDHPPT	60496	broad.mit.edu	37	11	105967614	105967614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:105967614C>T	ENST00000278618.4	+	6	1132	c.910C>T	c.(910-912)Cga>Tga	p.R304*	RP11-677I18.3_ENST00000532422.1_RNA|RP11-677I18.3_ENST00000527594.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	304					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AATTCCAATACGAAATGGTAC	0.348																																						ENST00000278618.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(910-912)Cga>Tga		aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase							68.0	60.0	63.0					11																	105967614		2201	4298	6499	SO:0001587	stop_gained	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105967614C>T	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.910C>T	11.37:g.105967614C>T	ENSP00000278618:p.Arg304*					RP11-677I18.3_ENST00000527594.1_RNA|RP11-677I18.3_ENST00000532422.1_RNA	p.R304*	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	6	1132	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	304					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Nonsense_Mutation	SNP	ENST00000278618.4	37	c.910C>T	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034431	0.75617	.	.	ENSG00000149313	ENST00000278618	.	.	.	5.5	1.46	0.22682	.	0.058865	0.64402	D	0.000004	.	.	.	.	.	.	0.42077	D	0.991237	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.519	0.16921	0.4207:0.4297:0.0:0.1497	.	.	.	.	X	304	.	ENSP00000278618:R304X	R	+	1	2	AASDHPPT	105472824	0.997000	0.39634	0.993000	0.49108	0.244000	0.25665	1.030000	0.30153	0.263000	0.21812	-0.145000	0.13849	CGA		0.348	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		9	29	0	0	0	1	0	9	29				
STOX1	219736	broad.mit.edu	37	10	70645798	70645798	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:70645798G>A	ENST00000298596.6	+	3	2329	c.2246G>A	c.(2245-2247)cGt>cAt	p.R749H	STOX1_ENST00000399169.4_Missense_Mutation_p.R749H|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R639H|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	749						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GACGACTTACGTCAAATGCTG	0.438																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(2245-2247)cGt>cAt		storkhead box 1							100.0	93.0	95.0					10																	70645798		1939	4143	6082	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645798G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2246G>A	10.37:g.70645798G>A	ENSP00000298596:p.Arg749His					STOX1_ENST00000399169.4_Missense_Mutation_p.R749H|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R639H	p.R749H	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	2329	+			749					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.2246G>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	2.604	-0.292394	0.05568	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.63096	-0.02;-0.02;-0.02	5.76	0.701	0.18104	.	0.696787	0.15878	N	0.240189	T	0.32436	0.0829	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10200	-1.0640	10	0.30078	T	0.28	.	1.8046	0.03078	0.2616:0.212:0.407:0.1194	.	749	Q6ZVD7	STOX1_HUMAN	H	749;749;639	ENSP00000382121:R749H;ENSP00000298596:R749H;ENSP00000394509:R639H	ENSP00000298596:R749H	R	+	2	0	STOX1	70315804	0.001000	0.12720	0.022000	0.16811	0.369000	0.29798	0.342000	0.19926	-0.049000	0.13379	-0.844000	0.03045	CGT		0.438	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		28	78	0	0	0	1	0	28	78				
PNPLA6	10908	broad.mit.edu	37	19	7619474	7619474	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7619474C>T	ENST00000221249.6	+	24	2816	c.2385C>T	c.(2383-2385)gcC>gcT	p.A795A	PNPLA6_ENST00000545201.2_Silent_p.A768A|PNPLA6_ENST00000600737.1_Silent_p.A833A|PNPLA6_ENST00000414982.3_Silent_p.A843A|PNPLA6_ENST00000450331.3_Silent_p.A795A	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	834					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGTGGCTGGCCCAGCAGGAGG	0.652																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2383-2385)gcC>gcT		patatin-like phospholipase domain containing 6							67.0	55.0	59.0					19																	7619474		2203	4300	6503	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7619474C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2385C>T	19.37:g.7619474C>T						PNPLA6_ENST00000545201.2_Silent_p.A768A|PNPLA6_ENST00000600737.1_Silent_p.A833A|PNPLA6_ENST00000450331.3_Silent_p.A795A|PNPLA6_ENST00000414982.3_Silent_p.A843A	p.A795A	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			24	2816	+			834					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.2385C>T	CCDS32891.1																																																																																				0.652	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		26	76	0	0	0	1	0	26	76				
FAM107A	11170	broad.mit.edu	37	3	58552905	58552905	+	Intron	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:58552905C>T	ENST00000394481.1	-	4	886				FAM107A_ENST00000360997.2_Intron|FAM107A_ENST00000464064.1_Silent_p.T119T|FAM107A_ENST00000447756.2_Intron|FAM107A_ENST00000474531.1_Intron	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A						regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CTGGAGGATGCGTGGTCCCTG	0.617																																						ENST00000464064.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(355-357)acG>acA		family with sequence similarity 107, member A							40.0	34.0	36.0					3																	58552905		2203	4300	6503	SO:0001627	intron_variant	11170				regulation of cell growth	nucleus	protein binding	g.chr3:58552905C>T	AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.327+29G>A	3.37:g.58552905C>T						FAM107A_ENST00000360997.2_Intron|FAM107A_ENST00000474531.1_Intron|FAM107A_ENST00000394481.1_Intron|FAM107A_ENST00000447756.2_Intron	p.T119T			O95990	F107A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)	3	441	-			119					B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Silent	SNP	ENST00000394481.1	37	c.357G>A	CCDS2892.1																																																																																				0.617	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	NM_007177		12	58	0	0	0	1	0	12	58				
DNM1P46	196968	broad.mit.edu	37	15	100339849	100339849	+	RNA	SNP	G	G	A	rs376427773		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:100339849G>A	ENST00000341853.1	-	0	1077					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GCAGCTAGGCGTCGTCCACGG	0.642																																						ENST00000341853.1																			0															G		0,1752		0,0,876	47.0	43.0	44.0			0.2	0.0	15		44	1,3981		0,1,1990	no	intergenic				0,1,2866	AA,AG,GG		0.0251,0.0,0.0174			100339849	1,5733	876	1991	2867			0							g.chr15:100339849G>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100339849G>A								NR_003260.1						0	1077	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.642	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		22	60	0	0	0	1	0	22	60				
EXTL1	2134	broad.mit.edu	37	1	26349416	26349416	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26349416C>T	ENST00000374280.3	+	1	1146	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	93					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCAGGGGCGATGGCCTTA	0.542																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(277-279)ggC>ggT		exostosin-like glycosyltransferase 1							102.0	103.0	103.0					1																	26349416		2203	4300	6503	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349416C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.279C>T	1.37:g.26349416C>T							p.G93G	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1146	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	93					Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.279C>T	CCDS271.1																																																																																				0.542	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		26	128	0	0	0	1	0	26	128				
ABAT	18	broad.mit.edu	37	16	8858658	8858658	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:8858658G>A	ENST00000396600.2	+	8	1449	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	ABAT_ENST00000425191.2_Missense_Mutation_p.A171T|ABAT_ENST00000268251.8_Missense_Mutation_p.A171T|ABAT_ENST00000567812.1_Missense_Mutation_p.A186T|ABAT_ENST00000569156.1_Missense_Mutation_p.A171T	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	171				MSQLITMACGSCSNENA -> CPSSSPWPACPAPMKTT (in Ref. 2; AAB38510). {ECO:0000305}.	behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)	p.A171T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CAATGAAAACGCCTTAAAGAC	0.592																																						ENST00000396600.2																			1	Substitution - Missense(1)	p.A171T(1)	upper_aerodigestive_tract(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(511-513)Gcc>Acc		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						135.0	110.0	119.0					16																	8858658		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8858658G>A	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.511G>A	16.37:g.8858658G>A	ENSP00000379845:p.Ala171Thr					ABAT_ENST00000569156.1_Missense_Mutation_p.A171T|ABAT_ENST00000425191.2_Missense_Mutation_p.A171T|ABAT_ENST00000567812.1_Missense_Mutation_p.A186T|ABAT_ENST00000268251.8_Missense_Mutation_p.A171T	p.A171T	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			8	1449	+			171	MSQLITMACGSCSNENA -> CPSSSPWPACPAPMKTT (in Ref. 2; AAB38510).				A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.511G>A	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467972	0.96257	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.94613	-3.47;-3.47;-3.47	5.63	5.63	0.86233	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99466	1.0944	10	0.72032	D	0.01	-13.7999	18.7245	0.91710	0.0:0.0:1.0:0.0	.	171	P80404	GABT_HUMAN	T	171	ENSP00000268251:A171T;ENSP00000379845:A171T;ENSP00000411916:A171T	ENSP00000268251:A171T	A	+	1	0	ABAT	8766159	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	9.331000	0.96430	2.661000	0.90470	0.650000	0.86243	GCC		0.592	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		25	97	0	0	0	1	0	25	97				
IL17RA	23765	broad.mit.edu	37	22	17589817	17589817	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:17589817G>A	ENST00000319363.6	+	13	1841	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	570					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GCTCCGCGCCGCCCTGGACAG	0.677																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1708-1710)Gcc>Acc		interleukin 17 receptor A							14.0	15.0	15.0					22																	17589817		2198	4294	6492	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17589817G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1708G>A	22.37:g.17589817G>A	ENSP00000320936:p.Ala570Thr						p.A570T	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	1841	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	570					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1708G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860089	0.71834	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.17528	2.27	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.49072	-0.8977	10	0.87932	D	0	-23.5703	18.8689	0.92305	0.0:0.0:1.0:0.0	.	518;570	D3YTB4;Q96F46	.;I17RA_HUMAN	T	518;570	ENSP00000320936:A570T	ENSP00000320936:A570T	A	+	1	0	IL17RA	15969817	1.000000	0.71417	0.157000	0.22605	0.016000	0.09150	9.400000	0.97290	2.530000	0.85305	0.561000	0.74099	GCC		0.677	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		7	32	0	0	0	1	0	7	32				
DNM3	26052	broad.mit.edu	37	1	172062857	172062857	+	Silent	SNP	A	A	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:172062857A>C	ENST00000355305.5	+	14	1724	c.1567A>C	c.(1567-1569)Agg>Cgg	p.R523R	DNM3_ENST00000367731.1_Intron|DNM3_ENST00000358155.4_Intron|DNM3_ENST00000367733.2_Intron|DNM3_ENST00000520906.1_Intron			Q9UQ16	DYN3_HUMAN	dynamin 3	523	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCCGCCTTCAAGGCAAATTGT	0.353																																						ENST00000355305.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1567-1569)Agg>Cgg		dynamin 3							84.0	83.0	83.0					1																	172062857		876	1991	2867	SO:0001819	synonymous_variant	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172062857A>C	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1567A>C	1.37:g.172062857A>C						DNM3_ENST00000367733.2_Intron|DNM3_ENST00000520906.1_Intron|DNM3_ENST00000358155.4_Intron|DNM3_ENST00000367731.1_Intron	p.R523R			Q9UQ16	DYN3_HUMAN			14	1724	+			523			PH.		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Silent	SNP	ENST00000355305.5	37	c.1567A>C																																																																																					0.353	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		4	89	0	0	0	1	0	4	89				
MARCH9	92979	broad.mit.edu	37	12	58152527	58152527	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:58152527G>A	ENST00000266643.5	+	4	1319	c.888G>A	c.(886-888)acG>acA	p.T296T	MARCH9_ENST00000548358.1_Silent_p.T183T	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	296					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTGGGGCCACGAGCCGCCCCC	0.652																																						ENST00000266643.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(1)	4						c.(886-888)acG>acA		membrane-associated ring finger (C3HC4) 9							19.0	20.0	20.0					12																	58152527		2201	4296	6497	SO:0001819	synonymous_variant	92979					Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding	g.chr12:58152527G>A	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.888G>A	12.37:g.58152527G>A						MARCH9_ENST00000548358.1_Silent_p.T183T	p.T296T	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	1319	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		296					B2R9U9|Q86VN5|Q96GG2	Silent	SNP	ENST00000266643.5	37	c.888G>A	CCDS31847.1																																																																																				0.652	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396		10	26	0	0	0	1	0	10	26				
HDAC4	9759	broad.mit.edu	37	2	239975226	239975226	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:239975226C>T	ENST00000345617.3	-	26	3936	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	HDAC4_ENST00000543185.1_Missense_Mutation_p.E633K	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1049	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCTTCGTTCTCGCAAGTCTGA	0.662																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(3145-3147)Gag>Aag		histone deacetylase 4							42.0	48.0	46.0					2																	239975226		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239975226C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.3145G>A	2.37:g.239975226C>T	ENSP00000264606:p.Glu1049Lys					HDAC4_ENST00000543185.1_Missense_Mutation_p.E633K	p.E1049K	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	26	3936	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	1049			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.3145G>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348008	0.82132	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	T;T	0.66638	0.19;-0.22	4.57	4.57	0.56435	.	0.053938	0.64402	D	0.000001	T	0.72269	0.3439	M	0.81497	2.545	0.80722	D	1	P;P	0.48640	0.831;0.913	B;P	0.45276	0.343;0.475	T	0.78422	-0.2210	10	0.56958	D	0.05	.	15.9316	0.79663	0.0:1.0:0.0:0.0	.	1017;1049	Q53SM2;P56524	.;HDAC4_HUMAN	K	1049;937;633	ENSP00000264606:E1049K;ENSP00000440481:E633K	ENSP00000264606:E1049K	E	-	1	0	HDAC4	239640163	1.000000	0.71417	0.994000	0.49952	0.240000	0.25518	6.566000	0.73978	2.254000	0.74563	0.650000	0.86243	GAG		0.662	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		53	63	0	0	0	1	0	53	63				
MUC2	4583	broad.mit.edu	37	11	1080294	1080294	+	Silent	SNP	C	C	T	rs531227250	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1080294C>T	ENST00000441003.2	+	8	1041	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	MUC2_ENST00000359061.5_Silent_p.D338D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	338	TIL.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGTATATGACGACATCGGGG	0.647													C|||	4	0.000798722	0.0	0.0	5008	,	,		17242	0.0		0.0	False		,,,				2504	0.0041					ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(1012-1014)gaC>gaT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						25.0	29.0	28.0					11																	1080294		2134	4235	6369	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1080294C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1014C>T	11.37:g.1080294C>T						MUC2_ENST00000359061.5_Silent_p.D338D	p.D338D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	1041	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	338			TIL.		Q14878	Silent	SNP	ENST00000441003.2	37	c.1014C>T																																																																																					0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		5	18	0	0	0	1	0	5	18				
ZBTB38	253461	broad.mit.edu	37	3	141164403	141164403	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141164403G>A	ENST00000514251.1	+	4	3452	c.3173G>A	c.(3172-3174)cGc>cAc	p.R1058H	ZBTB38_ENST00000441582.2_Missense_Mutation_p.R1058H|ZBTB38_ENST00000321464.5_Missense_Mutation_p.R1059H					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAACATGAACGCATCCACCTG	0.478																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(3172-3174)cGc>cAc		zinc finger and BTB domain containing 38							98.0	101.0	100.0					3																	141164403		2063	4203	6266	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141164403G>A	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3173G>A	3.37:g.141164403G>A	ENSP00000426387:p.Arg1058His					ZBTB38_ENST00000441582.2_Missense_Mutation_p.R1058H|ZBTB38_ENST00000321464.5_Missense_Mutation_p.R1059H	p.R1058H			Q8NAP3	ZBT38_HUMAN			4	3452	+			1058						Missense_Mutation	SNP	ENST00000514251.1	37	c.3173G>A	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925247	0.73213	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.25749	1.78;1.78;1.78	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.61489	0.2351	M	0.90542	3.125	0.40741	D	0.982838	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.68209	-0.5469	9	.	.	.	-27.8421	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1059;1058	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	H	1058;1058;1059	ENSP00000426387:R1058H;ENSP00000406955:R1058H;ENSP00000372635:R1059H	.	R	+	2	0	ZBTB38	142647093	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.148000	0.42235	2.713000	0.92767	0.655000	0.94253	CGC		0.478	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			71	33	0	0	0	1	0	71	33				
EPAS1	2034	broad.mit.edu	37	2	46574124	46574124	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:46574124G>A	ENST00000263734.3	+	2	649	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	47	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCCCCACAGTGTGAGCTCCCA	0.617																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(139-141)Gtg>Atg		endothelial PAS domain protein 1							125.0	114.0	118.0					2																	46574124		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46574124G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.139G>A	2.37:g.46574124G>A	ENSP00000263734:p.Val47Met					EPAS1_ENST00000467888.1_3'UTR	p.V47M	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		2	649	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	47			Helix-loop-helix motif.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.139G>A	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141278	0.57044	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.22336	1.96;1.96	4.86	3.99	0.46301	Helix-loop-helix DNA-binding (3);	0.221447	0.39146	N	0.001446	T	0.41971	0.1182	M	0.81239	2.535	0.45747	D	0.998648	D	0.62365	0.991	D	0.63877	0.919	T	0.37126	-0.9719	10	0.87932	D	0	.	7.7205	0.28729	0.304:0.0:0.696:0.0	.	47	Q99814	EPAS1_HUMAN	M	47	ENSP00000406137:V47M;ENSP00000263734:V47M	ENSP00000263734:V47M	V	+	1	0	EPAS1	46427628	0.998000	0.40836	0.984000	0.44739	0.984000	0.73092	2.762000	0.47597	1.276000	0.44395	0.561000	0.74099	GTG		0.617	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		13	214	0	0	0	1	0	13	214				
FANCB	2187	broad.mit.edu	37	X	14883271	14883271	+	Missense_Mutation	SNP	C	C	T	rs142289802	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:14883271C>T	ENST00000324138.3	-	2	515	c.362G>A	c.(361-363)cGt>cAt	p.R121H	FANCB_ENST00000398334.1_Missense_Mutation_p.R121H	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	121					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAAACTCAAACGCATTTCAAA	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(361-363)cGt>cAt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B		C	HIS/ARG,HIS/ARG	1,3834		0,1,0,1631,571	38.0	37.0	37.0		362,362	3.1	0.0	X	dbSNP_134	37	1,6726		0,0,1,2428,1870	no	missense,missense	FANCB	NM_001018113.1,NM_152633.2	29,29	0,1,1,4059,2441	TT,TC,T,CC,C		0.0149,0.0261,0.0189	probably-damaging,probably-damaging	121/860,121/860	14883271	2,10560	2203	4299	6502	SO:0001583	missense	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14883271C>T	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.362G>A	X.37:g.14883271C>T	ENSP00000326819:p.Arg121His					FANCB_ENST00000324138.3_Missense_Mutation_p.R121H	p.R121H	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			3	629	-	Hepatocellular(33;0.183)		121					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.362G>A	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	5.342	0.248475	0.10130	2.61E-4	1.49E-4	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.38077	1.16;1.16;1.16	5.82	3.06	0.35304	.	0.549764	0.21618	N	0.071681	T	0.33702	0.0872	M	0.62723	1.935	0.09310	N	1	D	0.63046	0.992	P	0.49047	0.599	T	0.18555	-1.0333	10	0.15066	T	0.55	0.641	2.3825	0.04357	0.2275:0.4475:0.1807:0.1443	.	121	Q8NB91	FANCB_HUMAN	H	121	ENSP00000326819:R121H;ENSP00000381378:R121H;ENSP00000397849:R121H	ENSP00000326819:R121H	R	-	2	0	FANCB	14793192	0.000000	0.05858	0.000000	0.03702	0.259000	0.26198	-0.017000	0.12590	0.212000	0.20703	0.600000	0.82982	CGT		0.313	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		20	7	0	0	0	1	0	20	7				
UBR4	23352	broad.mit.edu	37	1	19501461	19501461	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:19501461C>T	ENST00000375254.3	-	21	2867	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	UBR4_ENST00000375226.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375267.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375217.2_Missense_Mutation_p.R947Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	947					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGAATCAAGTCGGTTCAAATC	0.438																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(2839-2841)cGa>cAa		ubiquitin protein ligase E3 component n-recognin 4							101.0	93.0	96.0					1																	19501461		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19501461C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2840G>A	1.37:g.19501461C>T	ENSP00000364403:p.Arg947Gln					UBR4_ENST00000375217.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375226.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375254.3_Missense_Mutation_p.R947Q	p.R947Q			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	21	2843	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	947					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.2840G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	35	5.591915	0.96590	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	N	0.22421	0.69	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.04900	-1.0919	10	0.66056	D	0.02	.	20.0143	0.97474	0.0:1.0:0.0:0.0	.	947	Q5T4S7	UBR4_HUMAN	Q	947;947;947;947;163	ENSP00000364403:R947Q;ENSP00000364416:R947Q;ENSP00000364365:R947Q;ENSP00000364374:R947Q	ENSP00000364365:R947Q	R	-	2	0	UBR4	19374048	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.645000	0.67909	2.831000	0.97527	0.650000	0.86243	CGA		0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		51	103	0	0	0	1	0	51	103				
SMG1P5	595101	broad.mit.edu	37	16	30316394	30316394	+	RNA	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:30316394C>G	ENST00000411546.3	-	0	701					NR_002453.4																						TTCCTCATGTCTTTGGTGGCT	0.483																																						ENST00000411546.3																			0																																																			0							g.chr16:30316394C>G																													16.37:g.30316394C>G								NR_002453.4						0	701	-									RNA	SNP	ENST00000411546.3	37																																																																																						0.483	RP11-347C12.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000434110.1			3	36	0	0	0	1	0	3	36				
CBFA2T3	863	broad.mit.edu	37	16	88958664	88958664	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88958664C>T	ENST00000268679.4	-	4	1005	c.609G>A	c.(607-609)gtG>gtA	p.V203V	CBFA2T3_ENST00000360302.2_Silent_p.V117V|CBFA2T3_ENST00000327483.5_Silent_p.V117V|CBFA2T3_ENST00000436887.2_Silent_p.V178V|CBFA2T3_ENST00000448839.1_Silent_p.V127V	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	203	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V203V(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCAGGCCCAGCACCAGTGTGC	0.627			T	RUNX1	AML																																	ENST00000268679.4				Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		1	Substitution - coding silent(1)	p.V203V(1)	kidney(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(607-609)gtG>gtA		core-binding factor, runt domain, alpha subunit 2; translocated to, 3							41.0	43.0	42.0					16																	88958664		2198	4298	6496	SO:0001819	synonymous_variant	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88958664C>T	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.609G>A	16.37:g.88958664C>T						CBFA2T3_ENST00000448839.1_Silent_p.V127V|CBFA2T3_ENST00000327483.5_Silent_p.V117V|CBFA2T3_ENST00000360302.2_Silent_p.V117V|CBFA2T3_ENST00000436887.2_Silent_p.V178V	p.V203V	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	4	1005	-			203			Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	ENST00000268679.4	37	c.609G>A	CCDS10972.1																																																																																				0.627	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		20	63	0	0	0	1	0	20	63				
RIMBP2	23504	broad.mit.edu	37	12	130921520	130921520	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130921520G>A	ENST00000261655.4	-	10	2085	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	RIMBP2_ENST00000535703.1_Missense_Mutation_p.P549L|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P549L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	641	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCCACGGGCGGCTCCAGCAT	0.711																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1921-1923)cCg>cTg		RIMS binding protein 2							36.0	36.0	36.0					12																	130921520		2201	4298	6499	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921520G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1922C>T	12.37:g.130921520G>A	ENSP00000261655:p.Pro641Leu					RIMBP2_ENST00000536002.1_Missense_Mutation_p.P549L|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P549L	p.P641L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	2085	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	641			Pro-rich.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1922C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.748029	0.30955	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.21191	2.02;2.76;2.76	4.63	4.63	0.57726	.	0.136669	0.49916	D	0.000137	T	0.41673	0.1169	M	0.63843	1.955	0.80722	D	1	B;B;D	0.89917	0.063;0.428;1.0	B;B;D	0.64506	0.008;0.06;0.926	T	0.17167	-1.0378	10	0.29301	T	0.29	-13.3458	17.4987	0.87725	0.0:0.0:1.0:0.0	.	549;549;641	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	L	641;549;549;549	ENSP00000261655:P641L;ENSP00000440347:P549L;ENSP00000439159:P549L	ENSP00000261655:P641L	P	-	2	0	RIMBP2	129487473	1.000000	0.71417	0.910000	0.35882	0.048000	0.14542	5.301000	0.65727	2.121000	0.65114	0.561000	0.74099	CCG		0.711	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		16	16	0	0	0	1	0	16	16				
IL1RAPL2	26280	broad.mit.edu	37	X	104999270	104999270	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:104999270T>A	ENST00000372582.1	+	10	2048	c.1292T>A	c.(1291-1293)cTg>cAg	p.L431Q	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L431Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	431	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTGAAGTACTGCCAGATGTC	0.378																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1291-1293)cTg>cAg		interleukin 1 receptor accessory protein-like 2							132.0	121.0	125.0					X																	104999270		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104999270T>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1292T>A	X.37:g.104999270T>A	ENSP00000361663:p.Leu431Gln					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L431Q|IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.L36Q	p.L431Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			10	2048	+			431			TIR.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1292T>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822561	0.71028	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.09630	2.96;2.96;2.96	5.62	5.62	0.85841	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.48286	D	0.000186	T	0.42787	0.1218	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55341	-0.8156	10	0.87932	D	0	.	13.9067	0.63841	0.0:0.0:0.0:1.0	.	431	Q9NP60	IRPL2_HUMAN	Q	431;431;36	ENSP00000361663:L431Q;ENSP00000344976:L431Q;ENSP00000445576:L36Q	ENSP00000344976:L431Q	L	+	2	0	IL1RAPL2	104885926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	1.881000	0.54492	0.486000	0.48141	CTG		0.378	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		30	101	0	0	0	1	0	30	101				
KDM1A	23028	broad.mit.edu	37	1	23405541	23405541	+	Silent	SNP	C	C	T	rs549024936		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23405541C>T	ENST00000356634.3	+	15	2003	c.1854C>T	c.(1852-1854)tgC>tgT	p.C618C	KDM1A_ENST00000542151.1_Silent_p.C642C|KDM1A_ENST00000400181.4_Silent_p.C642C|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	618	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTTATAAATGCGACGCAGTTC	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		18775	0.0		0.0	False		,,,				2504	0.001					ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1924-1926)tgC>tgT		lysine (K)-specific demethylase 1A							125.0	126.0	126.0					1																	23405541		2203	4300	6503	SO:0001819	synonymous_variant	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23405541C>T	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1854C>T	1.37:g.23405541C>T						RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.C642C|KDM1A_ENST00000356634.3_Silent_p.C618C	p.C642C	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			17	2030	+			618			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	c.1926C>T	CCDS30627.1																																																																																				0.507	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		38	204	0	0	0	1	0	38	204				
DGKK	139189	broad.mit.edu	37	X	50147116	50147116	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:50147116G>A	ENST00000376025.2	-	0	1068							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCTGGGTCCGGTGGCTGTAA	0.438																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							80.0	74.0	76.0					X																	50147116		1975	4157	6132			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50147116G>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50147116G>A										Q5KSL6	DGKK_HUMAN			0	1068	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.438	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		19	9	0	0	0	1	0	19	9				
PGLYRP1	8993	broad.mit.edu	37	19	46522887	46522887	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:46522887G>A	ENST00000008938.4	-	2	349	c.306C>T	c.(304-306)gaC>gaT	p.D102D	CCDC61_ENST00000601763.1_Intron|MIR769_ENST00000390225.1_RNA	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	102					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		ATACGAGCCCGTCTTCTCCAA	0.592																																						ENST00000008938.4																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10						c.(304-306)gaC>gaT		peptidoglycan recognition protein 1							48.0	43.0	45.0					19																	46522887		2203	4300	6503	SO:0001819	synonymous_variant	8993				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:46522887G>A	AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"""peptidoglycan recognition protein"""	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.306C>T	19.37:g.46522887G>A						CCDC61_ENST00000601763.1_Intron	p.D102D	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	2	349	-		all_neural(266;0.113)|Ovarian(192;0.127)	102					Q4VB36	Silent	SNP	ENST00000008938.4	37	c.306C>T	CCDS12680.1																																																																																				0.592	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	NM_005091		28	34	0	0	0	1	0	28	34				
ABCA3	21	broad.mit.edu	37	16	2367755	2367755	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2367755C>T	ENST00000301732.5	-	9	1584	c.884G>A	c.(883-885)cGc>cAc	p.R295H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R295H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	295					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CCCCATCATGCGCATGTACTC	0.627																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(883-885)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 3							103.0	101.0	101.0					16																	2367755		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2367755C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.884G>A	16.37:g.2367755C>T	ENSP00000301732:p.Arg295His					ABCA3_ENST00000382381.3_Missense_Mutation_p.R295H	p.R295H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			9	1584	-		Ovarian(90;0.17)	295					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.884G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373137	0.24857	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.84730	-1.89	4.97	3.01	0.34805	.	0.111846	0.64402	D	0.000017	T	0.79197	0.4405	L	0.52573	1.65	0.80722	D	1	B;B;B	0.17038	0.02;0.017;0.02	B;B;B	0.18561	0.015;0.022;0.015	T	0.71300	-0.4634	10	0.36615	T	0.2	.	9.0699	0.36486	0.0:0.752:0.0:0.248	.	295;357;295	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	H	295;357	ENSP00000301732:R295H	ENSP00000301732:R295H	R	-	2	0	ABCA3	2307756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.847000	0.48270	0.611000	0.30052	0.561000	0.74099	CGC		0.627	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		51	62	0	0	0	1	0	51	62				
CILP2	148113	broad.mit.edu	37	19	19655182	19655182	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19655182G>A	ENST00000291495.5	+	8	1913	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	CILP2_ENST00000586018.1_Missense_Mutation_p.V616M	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	610						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGTGACGTTCGTGGACCCCCG	0.692																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1846-1848)Gtg>Atg		cartilage intermediate layer protein 2							47.0	57.0	53.0					19																	19655182		2203	4298	6501	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655182G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1828G>A	19.37:g.19655182G>A	ENSP00000291495:p.Val610Met					CILP2_ENST00000291495.4_Missense_Mutation_p.V610M	p.V616M			Q8IUL8	CILP2_HUMAN			8	1948	+			610					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1846G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812095	0.50527	.	.	ENSG00000160161	ENST00000291495	T	0.52754	0.65	4.37	3.28	0.37604	.	0.143616	0.46145	D	0.000318	T	0.35038	0.0918	N	0.22421	0.69	0.35019	D	0.757693	D;D	0.54964	0.969;0.969	B;P	0.45232	0.406;0.474	T	0.53063	-0.8491	10	0.72032	D	0.01	-24.218	9.8304	0.40939	0.0:0.4051:0.5949:0.0	.	610;610	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	M	610	ENSP00000291495:V610M	ENSP00000291495:V610M	V	+	1	0	CILP2	19516182	0.737000	0.28175	0.928000	0.36995	0.712000	0.41017	1.081000	0.30791	1.994000	0.58287	0.485000	0.47835	GTG		0.692	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		77	175	0	0	0	1	0	77	175				
ADCY5	111	broad.mit.edu	37	3	123036943	123036943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:123036943G>A	ENST00000462833.1	-	11	3490	c.2278C>T	c.(2278-2280)Cga>Tga	p.R760*	ADCY5_ENST00000491190.1_Nonsense_Mutation_p.R393*|ADCY5_ENST00000309879.5_Nonsense_Mutation_p.R410*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	760					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCACCAAATCGGTCGTCTACC	0.602																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2278-2280)Cga>Tga		adenylate cyclase 5							146.0	117.0	127.0					3																	123036943		2203	4300	6503	SO:0001587	stop_gained	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123036943G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2278C>T	3.37:g.123036943G>A	ENSP00000419361:p.Arg760*					ADCY5_ENST00000309879.5_Nonsense_Mutation_p.R410*|ADCY5_ENST00000491190.1_Nonsense_Mutation_p.R393*	p.R760*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	11	3490	-			760					B7Z8A6|Q7RTV7|Q8NFM3	Nonsense_Mutation	SNP	ENST00000462833.1	37	c.2278C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	51	17.966695	0.99897	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	.	.	.	5.24	5.24	0.73138	.	0.080168	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	14.8267	0.70120	0.0:0.0:0.8473:0.1527	.	.	.	.	X	760;393;410;319	.	ENSP00000308685:R410X	R	-	1	2	ADCY5	124519633	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.880000	0.48530	2.724000	0.93272	0.491000	0.48974	CGA		0.602	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		40	11	0	0	0	1	0	40	11				
SLC13A3	64849	broad.mit.edu	37	20	45217829	45217829	+	Missense_Mutation	SNP	C	C	T	rs200657221		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:45217829C>T	ENST00000279027.4	-	7	1004	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	SLC13A3_ENST00000396360.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000464518.1_5'Flank|SLC13A3_ENST00000290317.5_Missense_Mutation_p.R282Q|SLC13A3_ENST00000372121.1_Missense_Mutation_p.R279Q|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000413164.2_Missense_Mutation_p.R279Q|SLC13A3_ENST00000435032.1_5'UTR	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	329					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GTATTCTTCCCGAATTACAGC	0.502																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(985-987)cGg>cAg		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						116.0	118.0	117.0					20																	45217829		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45217829C>T	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.986G>A	20.37:g.45217829C>T	ENSP00000279027:p.Arg329Gln					SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000396360.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000372121.1_Missense_Mutation_p.R279Q|SLC13A3_ENST00000413164.2_Missense_Mutation_p.R279Q|SLC13A3_ENST00000290317.5_Missense_Mutation_p.R282Q|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R282Q	p.R329Q	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			7	1004	-		Myeloproliferative disorder(115;0.0122)	329					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.986G>A	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	C	2.993	-0.207716	0.06180	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121	T;T;T;T;T;T;T;T;T	0.10477	4.31;4.31;4.31;4.31;4.31;4.31;4.31;2.87;2.87	5.84	-2.32	0.06745	.	0.994059	0.08185	N	0.984765	T	0.04227	0.0117	N	0.04320	-0.23	0.31234	N	0.695949	B;B;B;B	0.18461	0.028;0.002;0.003;0.01	B;B;B;B	0.14578	0.007;0.004;0.004;0.011	T	0.50189	-0.8857	10	0.11182	T	0.66	-2.8817	8.9573	0.35825	0.0:0.2729:0.1118:0.6153	.	279;282;282;329	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	Q	282;282;329;282;279;282;282;242;279	ENSP00000290317:R282Q;ENSP00000379648:R282Q;ENSP00000279027:R329Q;ENSP00000420177:R282Q;ENSP00000415852:R279Q;ENSP00000419621:R282Q;ENSP00000417784:R282Q;ENSP00000395095:R242Q;ENSP00000361193:R279Q	ENSP00000279027:R329Q	R	-	2	0	SLC13A3	44651236	0.030000	0.19436	0.965000	0.40720	0.576000	0.36127	-0.163000	0.09997	-0.366000	0.08064	0.650000	0.86243	CGG		0.502	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			24	130	0	0	0	1	0	24	130				
AADACL2	344752	broad.mit.edu	37	3	151461914	151461914	+	Missense_Mutation	SNP	C	C	T	rs145856421		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:151461914C>T	ENST00000356517.3	+	3	504	c.395C>T	c.(394-396)aCg>aTg	p.T132M		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	132						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AATAGATGGACGGCAAACACG	0.358																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(394-396)aCg>aTg		arylacetamide deacetylase-like 2		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	171.0	160.0	164.0		395	-2.1	0.0	3	dbSNP_134	164	0,8600		0,0,4300	no	missense	AADACL2	NM_207365.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	132/402	151461914	1,13005	2203	4300	6503	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151461914C>T	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.395C>T	3.37:g.151461914C>T	ENSP00000348911:p.Thr132Met						p.T132M	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	504	+			132					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.395C>T	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	C	6.001	0.368687	0.11352	2.27E-4	0.0	ENSG00000197953	ENST00000356517	T	0.58358	0.34	5.18	-2.12	0.07165	Alpha/beta hydrolase fold-3 (1);	0.557546	0.18757	N	0.132003	T	0.44808	0.1311	N	0.20328	0.56	0.21697	N	0.999581	D	0.61080	0.989	P	0.58077	0.832	T	0.49753	-0.8906	10	0.17369	T	0.5	-9.9287	11.611	0.51059	0.0:0.4909:0.0:0.5091	.	132	Q6P093	ADCL2_HUMAN	M	132	ENSP00000348911:T132M	ENSP00000348911:T132M	T	+	2	0	AADACL2	152944604	0.325000	0.24660	0.012000	0.15200	0.185000	0.23345	0.595000	0.24029	-0.300000	0.08895	-0.140000	0.14226	ACG		0.358	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		72	25	0	0	0	1	0	72	25				
UGT2B11	10720	broad.mit.edu	37	4	70079942	70079942	+	Missense_Mutation	SNP	G	G	A	rs148268917		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:70079942G>A	ENST00000446444.1	-	1	507	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	167					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R167R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TACACAAACCGTATGTTAAGT	0.418																																						ENST00000446444.1																			1	Substitution - coding silent(1)	p.R167R(1)	large_intestine(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(499-501)Cgg>Tgg		UDP glucuronosyltransferase 2 family, polypeptide B11		G	TRP/ARG	0,4406		0,0,2203	132.0	127.0	129.0		499	2.0	0.0	4	dbSNP_134	129	1,8597		0,1,4298	no	missense	UGT2B11	NM_001073.1	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	167/530	70079942	1,13003	2203	4299	6502	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70079942G>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.499C>T	4.37:g.70079942G>A	ENSP00000387683:p.Arg167Trp					RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	p.R167W	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			1	507	-			167					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.499C>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	9.176	1.022251	0.19433	0.0	1.16E-4	ENSG00000213759	ENST00000446444	T	0.62105	0.05	1.96	1.96	0.26148	.	0.000000	0.64402	U	0.000007	T	0.41465	0.1160	N	0.24115	0.695	0.25163	N	0.990338	P	0.34757	0.467	B	0.26770	0.073	T	0.43782	-0.9370	10	0.87932	D	0	.	9.5515	0.39313	0.0:0.0:1.0:0.0	.	167	O75310	UDB11_HUMAN	W	167	ENSP00000387683:R167W	ENSP00000387683:R167W	R	-	1	2	UGT2B11	70114531	1.000000	0.71417	0.018000	0.16275	0.005000	0.04900	6.465000	0.73538	1.087000	0.41251	0.184000	0.17185	CGG		0.418	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		51	93	0	0	0	1	0	51	93				
DNAH1	25981	broad.mit.edu	37	3	52380763	52380763	+	Silent	SNP	C	C	T	rs375044038		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52380763C>T	ENST00000420323.2	+	11	2193	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	644	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTGGGGTGACGACTTAATTA	0.602																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(1930-1932)gaC>gaT		dynein, axonemal, heavy chain 1							45.0	47.0	46.0					3																	52380763		2132	4245	6377	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52380763C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1932C>T	3.37:g.52380763C>T							p.D644D	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	2193	+			644			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.1932C>T	CCDS46842.1																																																																																				0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		25	7	0	0	0	1	0	25	7				
SH2D3C	10044	broad.mit.edu	37	9	130511902	130511902	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:130511902G>A	ENST00000314830.8	-	5	840	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	SH2D3C_ENST00000373274.3_Missense_Mutation_p.R83W|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R86W|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R85W|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R175W	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	243	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTGAGTCCCGGATGAGGAAG	0.612																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(727-729)Cgg>Tgg		SH2 domain containing 3C							53.0	43.0	46.0					9																	130511902		2201	4297	6498	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511902G>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.727C>T	9.37:g.130511902G>A	ENSP00000317817:p.Arg243Trp					SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R83W|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R85W|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R175W|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R86W	p.R243W	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			5	840	-			243			SH2.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.727C>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539921	0.85917	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000314830;ENST00000414380	D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	5.67	5.67	0.87782	SH2 motif (4);	0.050421	0.85682	D	0.000000	D	0.99697	0.9885	H	0.97983	4.12	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.97499	1.0059	10	0.66056	D	0.02	-8.0661	18.7488	0.91806	0.0:0.0:1.0:0.0	.	83;243;175;86;85	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	W	86;85;175;83;243;60	ENSP00000362374:R86W;ENSP00000388536:R85W;ENSP00000362373:R175W;ENSP00000362371:R83W;ENSP00000317817:R243W;ENSP00000413760:R60W	ENSP00000317817:R243W	R	-	1	2	SH2D3C	129551723	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.535000	0.60629	2.686000	0.91538	0.561000	0.74099	CGG		0.612	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		6	15	0	0	0	1	0	6	15				
STK32B	55351	broad.mit.edu	37	4	5418644	5418644	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:5418644G>A	ENST00000282908.5	+	6	967	c.545G>A	c.(544-546)gGc>gAc	p.G182D	STK32B_ENST00000512636.1_Intron|STK32B_ENST00000510398.1_Missense_Mutation_p.G135D	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TCCATGGCTGGCACCAAGCCC	0.493																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(544-546)gGc>gAc		serine/threonine kinase 32B							78.0	66.0	70.0					4																	5418644		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5418644G>A	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.545G>A	4.37:g.5418644G>A	ENSP00000282908:p.Gly182Asp					STK32B_ENST00000512636.1_Intron|STK32B_ENST00000510398.1_Missense_Mutation_p.G135D	p.G182D	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			6	967	+			182			Protein kinase.			Missense_Mutation	SNP	ENST00000282908.5	37	c.545G>A	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940046	0.73557	.	.	ENSG00000152953	ENST00000282908;ENST00000510398	T;T	0.41065	1.01;1.01	4.58	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38436	U	0.001692	T	0.69708	0.3141	H	0.97659	4.05	0.80722	D	1	B	0.29671	0.254	B	0.43867	0.434	T	0.77534	-0.2552	10	0.66056	D	0.02	.	15.1935	0.73067	0.0:0.0:1.0:0.0	.	182	Q9NY57	ST32B_HUMAN	D	182;135	ENSP00000282908:G182D;ENSP00000420984:G135D	ENSP00000282908:G182D	G	+	2	0	STK32B	5469545	1.000000	0.71417	0.989000	0.46669	0.836000	0.47400	6.819000	0.75262	2.244000	0.73946	0.655000	0.94253	GGC		0.493	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		3	27	0	0	0	1	0	3	27				
INCENP	3619	broad.mit.edu	37	11	61912746	61912746	+	Silent	SNP	C	C	T	rs141016037		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:61912746C>T	ENST00000394818.3	+	13	2023	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D	INCENP_ENST00000278849.4_Silent_p.D603D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	607					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTCAGATCGACGAGAAGACTG	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18713	0.0		0.0	False		,,,				2504	0.0					ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1819-1821)gaC>gaT		inner centromere protein antigens 135/155kDa		C	,	0,4404		0,0,2202	102.0	106.0	104.0		1821,1809	-4.4	0.3	11	dbSNP_134	104	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	INCENP	NM_001040694.1,NM_020238.2	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	607/919,603/915	61912746	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61912746C>T	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1821C>T	11.37:g.61912746C>T						INCENP_ENST00000278849.4_Silent_p.D603D	p.D607D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			13	2023	+			607					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.1821C>T	CCDS44624.1																																																																																				0.577	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		9	131	0	0	0	1	0	9	131				
LPHN2	23266	broad.mit.edu	37	1	82372829	82372829	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:82372829G>A	ENST00000370728.1	+	6	846	c.201G>A	c.(199-201)acG>acA	p.T67T	LPHN2_ENST00000370730.1_Silent_p.T67T|LPHN2_ENST00000335786.5_Silent_p.T67T|LPHN2_ENST00000370727.1_Silent_p.T67T|LPHN2_ENST00000370723.1_Silent_p.T67T|LPHN2_ENST00000370725.1_Silent_p.T67T|LPHN2_ENST00000319517.6_Silent_p.T67T|LPHN2_ENST00000370713.1_Silent_p.T67T|LPHN2_ENST00000359929.3_Silent_p.T67T|LPHN2_ENST00000370715.1_Silent_p.T67T|LPHN2_ENST00000370721.1_Silent_p.T67T|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000271029.4_Silent_p.T67T|LPHN2_ENST00000370717.2_Silent_p.T67T|LPHN2_ENST00000394879.1_Silent_p.T67T			O95490	LPHN2_HUMAN	latrophilin 2	67	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGGTCGGACGGATGACAAGA	0.453																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(199-201)acG>acA		latrophilin 2							169.0	155.0	160.0					1																	82372829		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82372829G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.201G>A	1.37:g.82372829G>A						LPHN2_ENST00000370721.1_Silent_p.T67T|LPHN2_ENST00000370730.1_Silent_p.T67T|LPHN2_ENST00000335786.5_Silent_p.T67T|LPHN2_ENST00000271029.4_Silent_p.T67T|LPHN2_ENST00000370713.1_Silent_p.T67T|LPHN2_ENST00000359929.3_Silent_p.T67T|LPHN2_ENST00000370725.1_Silent_p.T67T|LPHN2_ENST00000370715.1_Silent_p.T67T|LPHN2_ENST00000370717.2_Silent_p.T67T|LPHN2_ENST00000370723.1_Silent_p.T67T|LPHN2_ENST00000319517.6_Silent_p.T67T|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Silent_p.T67T|LPHN2_ENST00000370727.1_Silent_p.T67T	p.T67T			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	846	+			67			SUEL-type lectin.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.201G>A																																																																																					0.453	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		7	215	0	0	0	1	0	7	215				
QRICH2	84074	broad.mit.edu	37	17	74289330	74289330	+	Missense_Mutation	SNP	C	C	T	rs151086130	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74289330C>T	ENST00000262765.5	-	4	1159	c.980G>A	c.(979-981)cGt>cAt	p.R327H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	327										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TACACATCCACGCTGATCCAT	0.498													C|||	5	0.000998403	0.0038	0.0	5008	,	,		27179	0.0		0.0	False		,,,				2504	0.0					ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(979-981)cGt>cAt		glutamine rich 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	209.0	173.0	185.0		980	-9.1	0.0	17	dbSNP_134	185	0,8600		0,0,4300	yes	missense	QRICH2	NM_032134.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	327/1664	74289330	1,13005	2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74289330C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.980G>A	17.37:g.74289330C>T	ENSP00000262765:p.Arg327His						p.R327H	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1159	-			327					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.980G>A	CCDS32741.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	7.471	0.646703	0.14516	2.27E-4	0.0	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.06933	3.24	4.54	-9.07	0.00724	.	.	.	.	.	T	0.01661	0.0053	N	0.04508	-0.205	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.001	T	0.41052	-0.9530	9	0.13853	T	0.58	1.8347	5.0037	0.14277	0.0829:0.1169:0.2681:0.5321	.	327;327	B5MD94;Q9H0J4	.;QRIC2_HUMAN	H	327	ENSP00000262765:R327H	ENSP00000262765:R327H	R	-	2	0	QRICH2	71800925	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.495000	0.00225	-2.468000	0.00531	-1.012000	0.02466	CGT		0.498	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		147	54	0	0	0	1	0	147	54				
CHIA	27159	broad.mit.edu	37	1	111857960	111857960	+	Missense_Mutation	SNP	G	G	A	rs140031055		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:111857960G>A	ENST00000369740.1	+	6	486	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIA_ENST00000483391.1_Intron|CHIA_ENST00000353665.6_Intron|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000343320.6_Missense_Mutation_p.R128H|CHIA_ENST00000430615.1_Missense_Mutation_p.R20H	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	128					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AAATTCCTGCGCCAGTATGAG	0.547																																						ENST00000369740.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(382-384)cGc>cAc		chitinase, acidic		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	110.0	106.0	107.0		59,383	1.8	0.9	1	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHIA	NM_021797.2,NM_201653.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	20/369,128/477	111857960	1,13005	2203	4300	6503	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111857960G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.383G>A	1.37:g.111857960G>A	ENSP00000358755:p.Arg128His					CHIA_ENST00000430615.1_Missense_Mutation_p.R20H|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.R128H|CHIA_ENST00000483391.1_Intron	p.R128H	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	6	486	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	128					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.383G>A	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039601	0.55003	0.0	1.16E-4	ENSG00000134216	ENST00000422815;ENST00000369740;ENST00000343320;ENST00000430615	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	4.72	1.77	0.24775	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.159070	0.41194	N	0.000933	T	0.05547	0.0146	M	0.79343	2.45	0.80722	D	1	P	0.38642	0.641	B	0.38296	0.27	T	0.10268	-1.0637	10	0.62326	D	0.03	-14.2335	8.9773	0.35944	0.2554:0.0:0.7446:0.0	.	128	Q9BZP6	CHIA_HUMAN	H	72;128;128;20	ENSP00000387671:R72H;ENSP00000358755:R128H;ENSP00000341828:R128H;ENSP00000391132:R20H	ENSP00000341828:R128H	R	+	2	0	CHIA	111659483	0.995000	0.38212	0.854000	0.33618	0.835000	0.47333	1.857000	0.39399	0.160000	0.19432	-0.123000	0.14984	CGC		0.547	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			86	165	0	0	0	1	0	86	165				
CNTNAP2	26047	broad.mit.edu	37	7	147600796	147600796	+	Silent	SNP	C	C	T	rs375648820		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:147600796C>T	ENST00000361727.3	+	14	2754	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	746	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTAACTGCGACGCGGACTACA	0.537										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2236-2238)gaC>gaT		contactin associated protein-like 2							61.0	50.0	54.0					7																	147600796		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147600796C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2238C>T	7.37:g.147600796C>T		HNSCC(39;0.1)					p.D746D	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		14	2754	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	746			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2238C>T	CCDS5889.1																																																																																				0.537	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			15	26	0	0	0	1	0	15	26				
TPSAB1	7177	broad.mit.edu	37	16	1292148	1292148	+	Silent	SNP	C	C	T	rs147278526		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1292148C>T	ENST00000338844.3	+	6	768	c.735C>T	c.(733-735)ggC>ggT	p.G245G	TPSAB1_ENST00000461509.2_Silent_p.G252G	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	245	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> D (in allele alpha; dbSNP:rs1060292).		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TCAGCTGGGGCGAGGGCTGTG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		7411	0.0		0.001	False		,,,				2504	0.0					ENST00000461509.2																			0				NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(754-756)ggC>ggT		tryptase alpha/beta 1		C		1,4393	2.1+/-5.4	0,1,2196	45.0	43.0	44.0		735	-6.2	0.0	16	dbSNP_134	44	17,8533	9.8+/-36.6	1,15,4259	no	coding-synonymous	TPSAB1	NM_003294.3		1,16,6455	TT,TC,CC		0.1988,0.0228,0.1391		245/276	1292148	18,12926	2197	4275	6472	SO:0001819	synonymous_variant	7177				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1292148C>T	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.735C>T	16.37:g.1292148C>T						TPSAB1_ENST00000338844.3_Silent_p.G245G	p.G252G			P20231	TRYB2_HUMAN			5	950	+		Hepatocellular(780;0.00369)	245			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	c.756C>T	CCDS10431.1																																																																																				0.657	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		11	36	0	0	0	1	0	11	36				
OR1D2	4991	broad.mit.edu	37	17	2995776	2995776	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2995776C>T	ENST00000331459.1	-	1	514	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	172					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GTGGATTTTTCGTGACCCACA	0.468																																						ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(514-516)cGa>cAa		olfactory receptor, family 1, subfamily D, member 2							96.0	89.0	91.0					17																	2995776		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995776C>T	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.515G>A	17.37:g.2995776C>T	ENSP00000327585:p.Arg172Gln						p.R172Q	NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN			1	514	-			172					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.515G>A	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	c	6.499	0.460218	0.12342	.	.	ENSG00000184166	ENST00000331459	T	0.00044	8.83	3.21	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.21373	0.66	0.09310	N	1	B	0.22683	0.073	B	0.20184	0.028	T	0.02519	-1.1147	9	0.29301	T	0.29	.	8.9605	0.35845	0.0:0.8836:0.0:0.1164	.	172	P34982	OR1D2_HUMAN	Q	172	ENSP00000327585:R172Q	ENSP00000327585:R172Q	R	-	2	0	OR1D2	2942526	0.000000	0.05858	0.062000	0.19696	0.128000	0.20619	0.121000	0.15667	0.537000	0.28751	0.543000	0.68304	CGA		0.468	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		52	17	0	0	0	1	0	52	17				
ZAN	7455	broad.mit.edu	37	7	100390125	100390125	+	RNA	SNP	C	C	T	rs372977694		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:100390125C>T	ENST00000348028.3	+	0	7975				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCCAGGAGGCGGGCGCTGCC	0.672																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							26.0	29.0	28.0					7																	100390125		2095	4195	6290			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100390125C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100390125C>T						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7956	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.62|10.62	1.401712|1.401712	0.25291|0.25291	.|.	.|.	ENSG00000146839|ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585|ENST00000546213	T;T;T|T	0.79141|0.26660	-1.24;-1.24;-1.24|1.72	3.24|3.24	0.258|0.258	0.15578|0.15578	.|.	0.000000|.	0.44097|.	D|.	0.000486|.	T|T	0.09730|0.09730	0.0239|0.0239	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999983|0.999983	P|B	0.36874|0.18310	0.572|0.027	B|B	0.22152|0.08055	0.038|0.003	T|T	0.34054|0.34054	-0.9844|-0.9844	9|8	.|.	.|.	.|.	.|.	2.7794|2.7794	0.05356|0.05356	0.2214:0.5254:0.0:0.2531|0.2214:0.5254:0.0:0.2531	.|.	2603|1020	F5H0T8|F5GX59	.|.	V|W	2603|1020	ENSP00000445943:A2603V;ENSP00000445091:A2603V;ENSP00000444427:A2603V|ENSP00000441117:R1020W	.|.	A|R	+|+	2|1	0|2	ZAN|ZAN	100228061|100228061	0.061000|0.061000	0.20836|0.20836	0.269000|0.269000	0.24586|0.24586	0.106000|0.106000	0.19336|0.19336	0.316000|0.316000	0.19469|0.19469	0.050000|0.050000	0.15949|0.15949	0.555000|0.555000	0.69702|0.69702	GCG|CGG		0.672	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		40	44	0	0	0	1	0	40	44				
LRP2	4036	broad.mit.edu	37	2	170060607	170060607	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170060607G>A	ENST00000263816.3	-	42	8175	c.7890C>T	c.(7888-7890)acC>acT	p.T2630T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2630					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GCAAATTTGTGGTCATTGCAA	0.448																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(7888-7890)acC>acT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						205.0	210.0	208.0					2																	170060607		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170060607G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7890C>T	2.37:g.170060607G>A							p.T2630T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	42	8175	-			2630					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.7890C>T	CCDS2232.1																																																																																				0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		69	294	0	0	0	1	0	69	294				
KIAA0430	9665	broad.mit.edu	37	16	15711316	15711316	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15711316G>A	ENST00000396368.3	-	14	3003	c.2797C>T	c.(2797-2799)Cgg>Tgg	p.R933W	KIAA0430_ENST00000551742.1_Missense_Mutation_p.R933W|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R930W|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R575W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R930W|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R768W	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	933	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CACACCAGCCGTCCGTTTCCT	0.512																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(2797-2799)Cgg>Tgg		KIAA0430							51.0	55.0	54.0					16																	15711316		1920	4119	6039	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15711316G>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2797C>T	16.37:g.15711316G>A	ENSP00000379654:p.Arg933Trp					KIAA0430_ENST00000551742.1_Missense_Mutation_p.R933W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R930W|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R930W|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R768W|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R575W	p.R933W	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			14	3003	-			932					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.2797C>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780966	0.70222	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.37	1.97	0.26223	.	0.000000	0.85682	D	0.000000	T	0.74550	0.3731	L	0.58101	1.795	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;P	0.70487	0.916;0.969;0.969;0.826	T	0.78224	-0.2287	9	0.87932	D	0	.	16.5322	0.84364	0.0:0.0:0.7085:0.2915	.	932;930;929;932	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	W	933;768;932;575;930;933;753	.	ENSP00000315718:R932W	R	-	1	2	KIAA0430	15618817	0.302000	0.24454	0.253000	0.24343	0.989000	0.77384	0.647000	0.24812	0.465000	0.27167	0.561000	0.74099	CGG		0.512	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		16	56	0	0	0	1	0	16	56				
SUSD2	56241	broad.mit.edu	37	22	24581087	24581087	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24581087G>A	ENST00000358321.3	+	6	1069	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	270					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTGGACCAACGACCACGCACT	0.672																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(808-810)Gac>Aac		sushi domain containing 2							34.0	34.0	34.0					22																	24581087		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24581087G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.808G>A	22.37:g.24581087G>A	ENSP00000351075:p.Asp270Asn						p.D270N	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			6	1069	+			270					Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.808G>A	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519358	0.85495	.	.	ENSG00000099994	ENST00000358321	T	0.19806	2.12	4.1	4.1	0.47936	.	0.476289	0.22825	N	0.055176	T	0.14700	0.0355	L	0.40543	1.245	0.41929	D	0.990557	P	0.48640	0.913	B	0.36378	0.223	T	0.10706	-1.0618	10	0.14252	T	0.57	-12.7161	14.242	0.65963	0.0:0.0:1.0:0.0	.	270	Q9UGT4	SUSD2_HUMAN	N	270	ENSP00000351075:D270N	ENSP00000351075:D270N	D	+	1	0	SUSD2	22911087	0.999000	0.42202	0.767000	0.31495	0.841000	0.47740	7.210000	0.77924	1.991000	0.58162	0.437000	0.28790	GAC		0.672	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		28	52	0	0	0	1	0	28	52				
CLSTN3	9746	broad.mit.edu	37	12	7310123	7310123	+	Missense_Mutation	SNP	G	G	A	rs138735435	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:7310123G>A	ENST00000266546.6	+	17	3016	c.2566G>A	c.(2566-2568)Gtg>Atg	p.V856M	CLSTN3_ENST00000537408.1_Missense_Mutation_p.V868M|CLSTN3_ENST00000331148.5_3'UTR	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	856					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.V856M(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGTGGTGTGCGTGGGCTTCCT	0.667													G|||	2	0.000399361	0.0	0.0	5008	,	,		-128	0.0		0.002	False		,,,				2504	0.0					ENST00000537408.1																			1	Substitution - Missense(1)	p.V856M(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(2602-2604)Gtg>Atg		calsyntenin 3		G	MET/VAL	0,4406		0,0,2203	68.0	56.0	60.0		2566	4.7	1.0	12	dbSNP_134	60	5,8595	4.3+/-15.6	0,5,4295	yes	missense	CLSTN3	NM_014718.3	21	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging	856/957	7310123	5,13001	2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7310123G>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2566G>A	12.37:g.7310123G>A	ENSP00000266546:p.Val856Met					CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000266546.6_Missense_Mutation_p.V856M	p.V868M			Q9BQT9	CSTN3_HUMAN			16	3140	+			856					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2602G>A	CCDS8575.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.02	3.529693	0.64860	0.0	5.81E-4	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.36520	1.25;1.25	4.72	4.72	0.59763	.	0.076637	0.52532	D	0.000072	T	0.56673	0.2001	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.80764	0.994;0.739;0.981	T	0.58719	-0.7587	10	0.66056	D	0.02	-29.9301	11.693	0.51527	0.0816:0.0:0.9184:0.0	.	198;868;856	Q8IUW6;Q5UE57;Q9BQT9	.;.;CSTN3_HUMAN	M	856;868	ENSP00000266546:V856M;ENSP00000440679:V868M	ENSP00000266546:V856M	V	+	1	0	CLSTN3	7201390	1.000000	0.71417	0.992000	0.48379	0.337000	0.28794	7.805000	0.86005	2.619000	0.88677	0.462000	0.41574	GTG		0.667	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		32	43	0	0	0	1	0	32	43				
NEK8	284086	broad.mit.edu	37	17	27065189	27065189	+	Missense_Mutation	SNP	G	G	A	rs138066977		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:27065189G>A	ENST00000268766.6	+	8	1182	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	383					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TTCATCTCGCGTTTCCTGGAG	0.657																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1147-1149)cGt>cAt		NIMA-related kinase 8		G	HIS/ARG	0,4406		0,0,2203	92.0	74.0	80.0		1148	5.7	1.0	17	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NEK8	NM_178170.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	383/693	27065189	1,13005	2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27065189G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1148G>A	17.37:g.27065189G>A	ENSP00000268766:p.Arg383His					AC010761.6_ENST00000584779.1_RNA	p.R383H	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			8	1182	+	Lung NSC(42;0.0158)		383					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1148G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	36	5.647273	0.96714	0.0	1.16E-4	ENSG00000160602	ENST00000268766	T	0.80304	-1.36	5.69	5.69	0.88448	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.90731	0.7091	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.91676	0.5354	10	0.87932	D	0	.	18.8035	0.92028	0.0:0.0:1.0:0.0	.	383	Q86SG6	NEK8_HUMAN	H	383	ENSP00000268766:R383H	ENSP00000268766:R383H	R	+	2	0	NEK8	24089316	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.185000	0.94900	2.699000	0.92147	0.655000	0.94253	CGT		0.657	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			18	51	0	0	0	1	0	18	51				
ZFP41	286128	broad.mit.edu	37	8	144332534	144332534	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332534C>T	ENST00000330701.4	+	2	890	c.521C>T	c.(520-522)aCg>aTg	p.T174M	ZFP41_ENST00000522452.1_Missense_Mutation_p.T174M|ZFP41_ENST00000520584.1_Missense_Mutation_p.T174M	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	174					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TACGAATGCACGCACTGTGGG	0.592																																						ENST00000330701.4																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(520-522)aCg>aTg		ZFP41 zinc finger protein							78.0	87.0	84.0					8																	144332534		2203	4300	6503	SO:0001583	missense	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332534C>T		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.521C>T	8.37:g.144332534C>T	ENSP00000327427:p.Thr174Met					ZFP41_ENST00000522452.1_Missense_Mutation_p.T174M|ZFP41_ENST00000520584.1_Missense_Mutation_p.T174M	p.T174M	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	890	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		174					D3DWJ5	Missense_Mutation	SNP	ENST00000330701.4	37	c.521C>T	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	C	1.847	-0.466090	0.04476	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.07800	3.16;3.16;3.16	3.3	-3.73	0.04398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06781	0.0173	L	0.52266	1.64	0.09310	N	1	B	0.23591	0.088	B	0.23150	0.044	T	0.40403	-0.9565	9	0.56958	D	0.05	-3.3303	2.2953	0.04149	0.2036:0.4482:0.2067:0.1415	.	174	Q8N8Y5	ZFP41_HUMAN	M	174	ENSP00000430465:T174M;ENSP00000327427:T174M;ENSP00000428966:T174M	ENSP00000327427:T174M	T	+	2	0	ZFP41	144403909	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.892000	0.04131	-0.630000	0.05567	-1.510000	0.00946	ACG		0.592	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		42	112	0	0	0	1	0	42	112				
DNAJC16	23341	broad.mit.edu	37	1	15874846	15874846	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:15874846C>T	ENST00000375847.3	+	7	1110	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	DNAJC16_ENST00000375849.1_Missense_Mutation_p.R316W|DNAJC16_ENST00000375838.1_Missense_Mutation_p.R316W	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	316					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATGACAAGGCGGTACAACAT	0.428																																						ENST00000375847.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(946-948)Cgg>Tgg		DnaJ (Hsp40) homolog, subfamily C, member 16							141.0	131.0	135.0					1																	15874846		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15874846C>T	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.946C>T	1.37:g.15874846C>T	ENSP00000365007:p.Arg316Trp					DNAJC16_ENST00000375838.1_Missense_Mutation_p.R316W|DNAJC16_ENST00000375849.1_Missense_Mutation_p.R316W	p.R316W	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	7	1110	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	316					Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.946C>T	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666531	0.29604	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.18960	2.18;2.18;2.18	6.07	6.07	0.98685	.	0.315101	0.36409	N	0.002611	T	0.14485	0.0350	N	0.19112	0.55	0.24318	N	0.995059	P;P	0.46578	0.88;0.88	B;B	0.32805	0.153;0.153	T	0.17592	-1.0364	10	0.87932	D	0	-18.1585	19.2231	0.93806	0.0:1.0:0.0:0.0	.	316;316	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	W	316	ENSP00000365007:R316W;ENSP00000364998:R316W;ENSP00000365009:R316W	ENSP00000364998:R316W	R	+	1	2	DNAJC16	15747433	0.990000	0.36364	0.441000	0.26858	0.016000	0.09150	2.778000	0.47726	2.885000	0.99019	0.655000	0.94253	CGG		0.428	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		34	43	0	0	0	1	0	34	43				
SPTAN1	6709	broad.mit.edu	37	9	131388869	131388869	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131388869G>A	ENST00000372731.4	+	48	6574	c.6464G>A	c.(6463-6465)cGc>cAc	p.R2155H	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2160H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2160H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2155					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAGCTGGACCGCCAGATCAAG	0.582																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(6478-6480)cGc>cAc		spectrin, alpha, non-erythrocytic 1							37.0	39.0	38.0					9																	131388869		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131388869G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6464G>A	9.37:g.131388869G>A	ENSP00000361816:p.Arg2155His					SPTAN1_ENST00000372731.4_Missense_Mutation_p.R2155H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2160H	p.R2160H	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			49	6589	+			2155					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.6479G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961029	0.74016	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.51325	0.71;0.71;0.71	5.53	4.64	0.57946	.	0.178101	0.51477	N	0.000086	T	0.51483	0.1677	L	0.49126	1.545	0.58432	D	0.999996	P;B;P	0.44659	0.84;0.001;0.831	P;B;B	0.48189	0.57;0.001;0.283	T	0.54925	-0.8220	10	0.62326	D	0.03	.	14.017	0.64529	0.0723:0.0:0.9277:0.0	.	2135;2160;2155	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	H	2160;2155;2160;2135;404	ENSP00000350882:R2160H;ENSP00000361816:R2155H;ENSP00000361824:R2160H	ENSP00000350882:R2160H	R	+	2	0	SPTAN1	130428690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.080000	0.71299	1.336000	0.45506	0.563000	0.77884	CGC		0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		14	62	0	0	0	1	0	14	62				
POF1B	79983	broad.mit.edu	37	X	84563165	84563165	+	Missense_Mutation	SNP	G	G	A	rs200939713		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:84563165G>A	ENST00000262753.4	-	10	1160	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	POF1B_ENST00000373145.3_Missense_Mutation_p.R339W	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	339						tight junction (GO:0005923)		p.R339R(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCTCCTCCCGTATGTTGCTA	0.358													G|||	1	0.000264901	0.0	0.0	3775	,	,		11485	0.0		0.001	False		,,,				2504	0.0					ENST00000262753.4																			1	Substitution - coding silent(1)	p.R339R(1)	lung(1)	central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(1015-1017)Cgg>Tgg		premature ovarian failure, 1B							91.0	79.0	83.0					X																	84563165		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84563165G>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1015C>T	X.37:g.84563165G>A	ENSP00000262753:p.Arg339Trp					POF1B_ENST00000373145.3_Missense_Mutation_p.R339W	p.R339W	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN			10	1160	-			339					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.1015C>T	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880271	0.72294	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	T;T	0.25579	1.8;1.79	5.86	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	L	0.59436	1.845	0.50632	D	0.999888	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.47749	-0.9093	10	0.87932	D	0	20.2429	14.1325	0.65263	0.0:0.0:0.8485:0.1515	.	339;339	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	W	339	ENSP00000262753:R339W;ENSP00000362238:R339W	ENSP00000262753:R339W	R	-	1	2	POF1B	84449821	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.942000	0.56614	1.198000	0.43158	0.600000	0.82982	CGG		0.358	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		46	11	0	0	0	1	0	46	11				
ZNF205	7755	broad.mit.edu	37	16	3169669	3169669	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:3169669C>T	ENST00000382192.3	+	7	1213	c.1008C>T	c.(1006-1008)taC>taT	p.Y336Y	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.Y336Y|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	336					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AGAAGCCCTACGCCTGCACTG	0.682																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(1006-1008)taC>taT		zinc finger protein 205							53.0	59.0	57.0					16																	3169669		2197	4300	6497	SO:0001819	synonymous_variant	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3169669C>T	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1008C>T	16.37:g.3169669C>T						RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.Y336Y|RP11-473M20.14_ENST00000576490.1_RNA	p.Y336Y	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			7	1213	+			336					A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	c.1008C>T	CCDS10494.2																																																																																				0.682	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		86	89	0	0	0	1	0	86	89				
CD22	933	broad.mit.edu	37	19	35823774	35823774	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:35823774G>T	ENST00000085219.5	+	3	425	c.359G>T	c.(358-360)aGg>aTg	p.R120M	CD22_ENST00000594250.1_Missense_Mutation_p.R120M|CD22_ENST00000536635.2_Missense_Mutation_p.R120M|U62631.5_ENST00000597110.1_RNA|CD22_ENST00000544992.2_Missense_Mutation_p.R120M|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.R120M|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000595419.1_3'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	120	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGGGGCTGAGGATGGAGTCC	0.542																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(358-360)aGg>aTg		CD22 molecule	OspA lipoprotein(DB00045)						90.0	79.0	83.0					19																	35823774		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35823774G>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.359G>T	19.37:g.35823774G>T	ENSP00000085219:p.Arg120Met					CD22_ENST00000270311.6_5'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.R120M|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000536635.2_Missense_Mutation_p.R120M|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000544992.2_Missense_Mutation_p.R120M|CD22_ENST00000594250.1_Missense_Mutation_p.R120M	p.R120M	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		3	425	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		120			Ig-like V-type.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.359G>T	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555079	0.65425	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.26	5.26	0.73747	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000028	T	0.69205	0.3085	M	0.79805	2.47	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;0.998;0.999	T	0.70586	-0.4831	10	0.44086	T	0.13	.	14.3709	0.66838	0.0:0.0:1.0:0.0	.	120;120;120;120	F5GYU4;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	M	120	ENSP00000085219:R120M;ENSP00000442279:R120M;ENSP00000339349:R120M;ENSP00000441237:R120M	ENSP00000085219:R120M	R	+	2	0	CD22	40515614	0.997000	0.39634	0.976000	0.42696	0.475000	0.33008	4.489000	0.60309	2.459000	0.83118	0.563000	0.77884	AGG		0.542	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		18	71	1	0	0.000132079	1	0.000133239	18	71				
PREX1	57580	broad.mit.edu	37	20	47266679	47266679	+	Silent	SNP	C	C	T	rs368665525		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:47266679C>T	ENST00000371941.3	-	24	2905	c.2883G>A	c.(2881-2883)ccG>ccA	p.P961P	PREX1_ENST00000396220.1_Silent_p.P961P	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	961					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCACACAGCGGGTGGGGCT	0.592																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(2881-2883)ccG>ccA		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1		C		0,4406		0,0,2203	83.0	92.0	89.0		2883	-11.4	0.0	20		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PREX1	NM_020820.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		961/1660	47266679	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47266679C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2883G>A	20.37:g.47266679C>T						PREX1_ENST00000371941.3_Silent_p.P961P	p.P961P			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		24	2905	-			961					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.2883G>A	CCDS13410.1																																																																																				0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		78	163	0	0	0	1	0	78	163				
MARVELD3	91862	broad.mit.edu	37	16	71674814	71674814	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:71674814G>A	ENST00000299952.4	+	3	1160	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	376	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CATGTACGGCGCCAGCGTGGT	0.597																																						ENST00000299952.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(1117-1119)Gcc>Acc		MARVEL domain containing 3							55.0	45.0	49.0					16																	71674814		2198	4300	6498	SO:0001583	missense	91862					integral to membrane		g.chr16:71674814G>A	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.1117G>A	16.37:g.71674814G>A	ENSP00000299952:p.Ala373Thr					PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	p.A373T	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN			3	1160	+		Ovarian(137;0.125)	376			MARVEL.		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000299952.4	37	c.1117G>A	CCDS32478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.51|13.51	2.258367|2.258367	0.39896|0.39896	.|.	.|.	ENSG00000140832|ENSG00000040199	ENST00000299952|ENST00000299971	D|.	0.86769|.	-2.17|.	5.67|5.67	4.72|4.72	0.59763|0.59763	.|.	0.698477|.	0.14726|.	N|.	0.302056|.	T|T	0.72692|0.72692	0.3492|0.3492	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.31817|.	0.341|.	B|.	0.22386|.	0.039|.	T|T	0.75932|0.75932	-0.3143|-0.3143	9|5	0.49607|0.87932	T|D	0.09|0	-19.0497|-19.0497	12.383|12.383	0.55317|0.55317	0.0809:0.0:0.919:0.0|0.0809:0.0:0.919:0.0	.|.	373|.	Q96A59-2|.	.|.	T|C	373|790	ENSP00000299952:A373T|.	ENSP00000299952:A373T|ENSP00000299971:R790C	A|R	+|-	1|1	0|0	MARVELD3|PHLPP2	70232315|70232315	0.637000|0.637000	0.27216|0.27216	0.098000|0.098000	0.21074|0.21074	0.069000|0.069000	0.16628|0.16628	3.699000|3.699000	0.54778|0.54778	1.411000|1.411000	0.46957|0.46957	-0.136000|-0.136000	0.14681|0.14681	GCC|CGC		0.597	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		35	38	0	0	0	1	0	35	38				
ICOSLG	23308	broad.mit.edu	37	21	45651221	45651221	+	Silent	SNP	G	G	A	rs373630907		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:45651221G>A	ENST00000407780.3	-	5	931	c.804C>T	c.(802-804)gtC>gtT	p.V268V	ICOSLG_ENST00000344330.4_Silent_p.V268V|ICOSLG_ENST00000400377.3_Silent_p.V151V|ICOSLG_ENST00000400379.3_Silent_p.V268V	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	268					B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CCACCGCCACGACCACAAGCA	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17071	0.0		0.0	False		,,,				2504	0.0					ENST00000407780.3																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(802-804)gtC>gtT		inducible T-cell co-stimulator ligand		G		0,4322		0,0,2161	86.0	96.0	92.0		804	-1.9	0.0	21		92	2,8500		0,2,4249	no	coding-synonymous	ICOSLG	NM_015259.4		0,2,6410	AA,AG,GG		0.0235,0.0,0.0156		268/303	45651221	2,12822	2161	4251	6412	SO:0001819	synonymous_variant	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45651221G>A	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.804C>T	21.37:g.45651221G>A						ICOSLG_ENST00000344330.4_Silent_p.V268V|ICOSLG_ENST00000400377.3_Silent_p.V151V|ICOSLG_ENST00000400379.3_Silent_p.V268V	p.V268V			O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	5	931	-			268					A8MUZ1|Q9HD18|Q9NRQ1	Silent	SNP	ENST00000407780.3	37	c.804C>T	CCDS42952.1																																																																																				0.567	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		52	72	0	0	0	1	0	52	72				
PCED1A	64773	broad.mit.edu	37	20	2820527	2820527	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:2820527C>T	ENST00000360652.2	-	2	534	c.32G>A	c.(31-33)cGc>cAc	p.R11H	VPS16_ENST00000380445.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.R11H|VPS16_ENST00000380469.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	11																	CAGCGGGCGGCGCGGCTCCTC	0.637																																						ENST00000360652.2																			0											c.(31-33)cGc>cAc		PC-esterase domain containing 1A							79.0	72.0	75.0					20																	2820527		2203	4300	6503	SO:0001583	missense	64773							g.chr20:2820527C>T	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.32G>A	20.37:g.2820527C>T	ENSP00000353868:p.Arg11His					PCED1A_ENST00000356872.3_Missense_Mutation_p.R11H	p.R11H	NM_022760.3	NP_073597.2					2	534	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.32G>A	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928157	0.34002	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000380531;ENST00000448755;ENST00000439542	T;T;T;T	0.52057	0.69;0.68;0.73;0.7	3.83	1.58	0.23477	.	0.642678	0.13025	N	0.419754	T	0.22936	0.0554	N	0.08118	0	0.25671	N	0.985895	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.19128	-1.0315	10	0.22109	T	0.4	-1.254	6.0163	0.19605	0.0:0.7786:0.0:0.2214	.	11;11	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	H	11	ENSP00000349334:R11H;ENSP00000353868:R11H;ENSP00000388935:R11H;ENSP00000401711:R11H	ENSP00000349334:R11H	R	-	2	0	FAM113A	2768527	0.797000	0.28877	0.592000	0.28758	0.736000	0.42039	0.482000	0.22276	0.411000	0.25702	0.655000	0.94253	CGC		0.637	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		35	42	0	0	0	1	0	35	42				
WTAP	9589	broad.mit.edu	37	6	160176453	160176453	+	Missense_Mutation	SNP	C	C	T	rs375840138		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:160176453C>T	ENST00000358372.4	+	8	2758	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	334					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CAACTCAGTGCGGGGTATGAA	0.483																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(1000-1002)gCg>gTg		Wilms tumor 1 associated protein		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	107.0	98.0	101.0		1001	4.4	1.0	6		101	0,8600		0,0,4300	no	missense	WTAP	NM_004906.3	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	334/397	160176453	1,13005	2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160176453C>T	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.1001C>T	6.37:g.160176453C>T	ENSP00000351141:p.Ala334Val					SOD2_ENST00000546087.1_Intron	p.A334V	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	8	2758	+		Breast(66;0.000776)|Ovarian(120;0.0303)	334					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.1001C>T	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729538	0.48833	2.27E-4	0.0	ENSG00000146457	ENST00000358372	T	0.53423	0.62	6.17	4.41	0.53225	.	0.148693	0.64402	N	0.000008	T	0.17323	0.0416	N	0.19112	0.55	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.14578	0.011;0.001	T	0.03374	-1.1043	10	0.33141	T	0.24	-6.4167	13.0344	0.58862	0.0:0.8707:0.0:0.1293	.	334;334	A8K489;Q15007	.;FL2D_HUMAN	V	334	ENSP00000351141:A334V	ENSP00000351141:A334V	A	+	2	0	WTAP	160096443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.686000	0.68211	0.946000	0.37632	0.655000	0.94253	GCG		0.483	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		33	64	0	0	0	1	0	33	64				
SHD	56961	broad.mit.edu	37	19	4290594	4290594	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:4290594G>A	ENST00000543264.2	+	6	2450	c.987G>A	c.(985-987)ctG>ctA	p.L329L	SHD_ENST00000599689.1_Silent_p.L289L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	329	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGCATCTGGCTCTGCTGT	0.662																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(985-987)ctG>ctA		Src homology 2 domain containing transforming protein D							56.0	50.0	52.0					19																	4290594		2203	4300	6503	SO:0001819	synonymous_variant	56961							g.chr19:4290594G>A	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.987G>A	19.37:g.4290594G>A						SHD_ENST00000599689.1_Silent_p.L289L	p.L329L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	6	2450	+			329			SH2.		Q96NC2	Silent	SNP	ENST00000543264.2	37	c.987G>A	CCDS12125.1																																																																																				0.662	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		36	86	0	0	0	1	0	36	86				
MIER3	166968	broad.mit.edu	37	5	56231270	56231270	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:56231270C>T	ENST00000381199.3	-	7	590	c.580G>A	c.(580-582)Gat>Aat	p.D194N	MIER3_ENST00000381213.3_Missense_Mutation_p.D194N|MIER3_ENST00000381226.3_Missense_Mutation_p.D199N|MIER3_ENST00000409421.1_Missense_Mutation_p.D131N			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	194	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCATTACCATCGTACTCTCCA	0.313																																						ENST00000381226.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19						c.(595-597)Gat>Aat		mesoderm induction early response 1, family member 3							119.0	119.0	119.0					5																	56231270		2203	4300	6503	SO:0001583	missense	166968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:56231270C>T	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.580G>A	5.37:g.56231270C>T	ENSP00000370596:p.Asp194Asn					MIER3_ENST00000381199.3_Missense_Mutation_p.D194N|MIER3_ENST00000409421.1_Missense_Mutation_p.D131N|MIER3_ENST00000381213.3_Missense_Mutation_p.D194N	p.D199N			Q7Z3K6	MIER3_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	7	610	-		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)	194			ELM2.		B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37	c.595G>A		.	.	.	.	.	.	.	.	.	.	C	10.46	1.356103	0.24598	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	6.11	1.0	0.19881	ELM2 domain (2);	0.859126	0.11073	N	0.602728	T	0.11239	0.0274	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.0	T	0.29941	-0.9995	10	0.20046	T	0.44	-23.5309	1.1178	0.01718	0.1631:0.2166:0.1615:0.4588	.	194;199;194	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	N	199;194;194;131	ENSP00000370624:D199N;ENSP00000370611:D194N;ENSP00000370596:D194N;ENSP00000386584:D131N	ENSP00000370596:D194N	D	-	1	0	MIER3	56267027	0.977000	0.34250	0.144000	0.22314	0.731000	0.41821	1.431000	0.34925	0.254000	0.21573	0.655000	0.94253	GAT		0.313	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		26	121	0	0	0	1	0	26	121				
ST5	6764	broad.mit.edu	37	11	8752647	8752647	+	Missense_Mutation	SNP	G	G	A	rs369886137		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:8752647G>A	ENST00000534127.1	-	6	575	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	ST5_ENST00000313726.6_Missense_Mutation_p.R64W|ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R64W|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	64	Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGGAGCACCCGGGAGCTGGAG	0.612																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(190-192)Cgg>Tgg		suppression of tumorigenicity 5		G	,TRP/ARG,TRP/ARG	0,4402		0,0,2201	30.0	34.0	33.0		,190,190	5.0	1.0	11		33	1,8591	1.2+/-3.3	0,1,4295	no	intron,missense,missense	ST5	NM_139157.2,NM_213618.1,NM_005418.3	,101,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,benign,benign	,64/1138,64/1138	8752647	1,12993	2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8752647G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.190C>T	11.37:g.8752647G>A	ENSP00000433528:p.Arg64Trp					ST5_ENST00000357665.1_Missense_Mutation_p.R64W|ST5_ENST00000313726.6_Missense_Mutation_p.R64W|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	p.R64W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	575	-			64			Pro-rich.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.190C>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326238	0.41197	0.0	1.16E-4	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665;ENST00000528523;ENST00000527930;ENST00000533681;ENST00000526241;ENST00000530959;ENST00000533580;ENST00000526155;ENST00000534248;ENST00000527347;ENST00000533016;ENST00000527516;ENST00000527473;ENST00000530938;ENST00000533471	T;T;T	0.07800	3.16;3.16;3.16	5.91	4.98	0.66077	.	0.670897	0.14891	N	0.292389	T	0.10723	0.0262	L	0.43152	1.355	0.33414	D	0.578945	B	0.02656	0.0	B	0.04013	0.001	T	0.03534	-1.1027	10	0.72032	D	0.01	-8.3991	14.9022	0.70687	0.0:0.0:0.6385:0.3615	.	64	P78524	ST5_HUMAN	W	64;64;64;64;94;64;64;64;81;64;64;64;84;64;64;64;64	ENSP00000433528:R64W;ENSP00000319678:R64W;ENSP00000350294:R64W	ENSP00000319678:R64W	R	-	1	2	ST5	8709223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.566000	0.36396	1.441000	0.47550	0.655000	0.94253	CGG		0.612	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		6	61	0	0	0	1	0	6	61				
POLD1	5424	broad.mit.edu	37	19	50912844	50912844	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50912844C>T	ENST00000440232.2	+	17	2128	c.2075C>T	c.(2074-2076)gCg>gTg	p.A692V	POLD1_ENST00000599857.1_Missense_Mutation_p.A692V|POLD1_ENST00000595904.1_Missense_Mutation_p.A718V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	692					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGGCAGCTGGCGCTGAAGGTG	0.672								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2074-2076)gCg>gTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							57.0	64.0	61.0					19																	50912844		2202	4300	6502	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50912844C>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2075C>T	19.37:g.50912844C>T	ENSP00000406046:p.Ala692Val					POLD1_ENST00000595904.1_Missense_Mutation_p.A718V|POLD1_ENST00000599857.1_Missense_Mutation_p.A692V	p.A692V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	17	2128	+		all_neural(266;0.0571)	692					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.2075C>T	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	C	33	5.291279	0.95546	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.32272	1.46	4.38	4.38	0.52667	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.72317	0.3445	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85237	0.1036	10	0.87932	D	0	-22.6649	16.0916	0.81094	0.0:1.0:0.0:0.0	.	718;692	E7EVW0;P28340	.;DPOD1_HUMAN	V	692;693	ENSP00000406046:A692V	ENSP00000366129:A693V	A	+	2	0	POLD1	55604656	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	7.047000	0.76599	2.190000	0.69967	0.561000	0.74099	GCG		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			10	194	0	0	0	1	0	10	194				
TMEM86A	144110	broad.mit.edu	37	11	18723160	18723160	+	Silent	SNP	G	G	A	rs373427296		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18723160G>A	ENST00000280734.2	+	3	423	c.327G>A	c.(325-327)tcG>tcA	p.S109S	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	109						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TCTACGCCTCGGCCTTTGGCA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		17914	0.0		0.001	False		,,,				2504	0.0					ENST00000280734.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						c.(325-327)tcG>tcA		transmembrane protein 86A		G		1,4397	2.1+/-5.4	0,1,2198	92.0	87.0	89.0		327	-6.2	0.9	11		89	0,8586		0,0,4293	no	coding-synonymous	TMEM86A	NM_153347.1		0,1,6491	AA,AG,GG		0.0,0.0227,0.0077		109/241	18723160	1,12983	2199	4293	6492	SO:0001819	synonymous_variant	144110					integral to membrane		g.chr11:18723160G>A	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.327G>A	11.37:g.18723160G>A						TMEM86A_ENST00000527002.1_3'UTR	p.S109S	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN			3	423	+			109					Q96AJ0	Silent	SNP	ENST00000280734.2	37	c.327G>A	CCDS7844.1																																																																																				0.587	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		92	91	0	0	0	1	0	92	91				
CR1	1378	broad.mit.edu	37	1	207793369	207793369	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793369C>T	ENST00000367049.4	+	43	7211	c.7211C>T	c.(7210-7212)gCg>gTg	p.A2404V	CR1_ENST00000367051.1_Missense_Mutation_p.A1954V|CR1_ENST00000367052.1_Missense_Mutation_p.A1954V|CR1_ENST00000400960.2_Missense_Mutation_p.A1954V|CR1_ENST00000367053.1_Missense_Mutation_p.A1954V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1954					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGTGCCAGGCGGATGACAGA	0.468											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(7210-7212)gCg>gTg		complement component (3b/4b) receptor 1 (Knops blood group)							80.0	88.0	85.0					1																	207793369		2112	4266	6378	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207793369C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7211C>T	1.37:g.207793369C>T	ENSP00000356016:p.Ala2404Val		OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2170	CR1_ENST00000367053.1_Missense_Mutation_p.A1954V|CR1_ENST00000367052.1_Missense_Mutation_p.A1954V|CR1_ENST00000400960.2_Missense_Mutation_p.A1954V|CR1_ENST00000367051.1_Missense_Mutation_p.A1954V	p.A2404V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			43	7211	+			1954					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.7211C>T	CCDS44308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.216|2.216	-0.379526|-0.379526	0.05000|0.05000	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049|ENST00000529814	T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2|.	4.6|4.6	-4.99|-4.99	0.03010|0.03010	Complement control module (2);Sushi/SCR/CCP (3);|.	.|.	.|.	.|.	.|.	T|T	0.37839|0.37839	0.1018|0.1018	M|M	0.61703|0.61703	1.905|1.905	0.09310|0.09310	N|N	1|1	P;D|.	0.89917|.	0.599;1.0|.	B;D|.	0.70487|.	0.113;0.969|.	T|T	0.42032|0.42032	-0.9475|-0.9475	9|5	0.28530|.	T|.	0.3|.	.|.	4.5927|4.5927	0.12315|0.12315	0.5582:0.2623:0.0944:0.0851|0.5582:0.2623:0.0944:0.0851	.|.	1954;2404|.	P17927;E9PDY4|.	CR1_HUMAN;.|.	V|W	1954;1954;1954;1954;2404|577	ENSP00000356019:A1954V;ENSP00000356018:A1954V;ENSP00000356020:A1954V;ENSP00000383744:A1954V;ENSP00000356016:A2404V|.	ENSP00000356016:A2404V|.	A|R	+|+	2|1	0|2	CR1|CR1	205859992|205859992	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.031000|0.031000	0.12232|0.12232	-0.589000|-0.589000	0.05767|0.05767	-1.050000|-1.050000	0.03230|0.03230	-0.188000|-0.188000	0.12872|0.12872	GCG|CGG		0.468	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		24	34	0	0	0	1	0	24	34				
DRD5	1816	broad.mit.edu	37	4	9783925	9783925	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:9783925C>T	ENST00000304374.2	+	1	668	c.272C>T	c.(271-273)gCg>gTg	p.A91V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	91					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTTTTCGTGGCGCTGCTGGTC	0.632																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(271-273)gCg>gTg		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						54.0	49.0	51.0					4																	9783925		2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783925C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.272C>T	4.37:g.9783925C>T	ENSP00000306129:p.Ala91Val						p.A91V	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	668	+			91					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.272C>T	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	26.1	4.702768	0.88924	.	.	ENSG00000169676	ENST00000304374	T	0.37235	1.21	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.057522	0.64402	D	0.000001	T	0.71467	0.3343	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82566	-0.0393	10	0.87932	D	0	.	15.5246	0.75894	0.0:1.0:0.0:0.0	.	91	P21918	DRD5_HUMAN	V	91	ENSP00000306129:A91V	ENSP00000306129:A91V	A	+	2	0	DRD5	9393023	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.297000	0.78799	2.130000	0.65690	0.305000	0.20034	GCG		0.632	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			24	101	0	0	0	1	0	24	101				
ATIC	471	broad.mit.edu	37	2	216209588	216209588	+	Silent	SNP	C	C	T	rs553792539		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:216209588C>T	ENST00000236959.9	+	13	1640	c.1314C>T	c.(1312-1314)aaC>aaT	p.N438N	ATIC_ENST00000435675.1_Silent_p.N437N|ATIC_ENST00000540518.1_Silent_p.N379N	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	438					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	ACGCCAAGAACGGGCAGGTAA	0.488			T	ALK	ALCL								C|||	1	0.000199681	0.0008	0.0	5008	,	,		17118	0.0		0.0	False		,,,				2504	0.0					ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1309-1311)aaC>aaT		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						113.0	93.0	100.0					2																	216209588		2203	4300	6503	SO:0001819	synonymous_variant	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216209588C>T		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1314C>T	2.37:g.216209588C>T						ATIC_ENST00000236959.9_Silent_p.N438N|ATIC_ENST00000540518.1_Silent_p.N379N	p.N437N			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	12	1702	+		Renal(323;0.229)	438					A8K202|E9PBU3|Q13856|Q53S28	Silent	SNP	ENST00000236959.9	37	c.1311C>T	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	C	9.767	1.171598	0.21704	.	.	ENSG00000138363	ENST00000446622;ENST00000426233	.	.	.	5.91	-3.79	0.04320	.	.	.	.	.	T	0.62889	0.2465	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63125	-0.6707	4	.	.	.	-15.5841	13.6417	0.62255	0.0:0.3646:0.0:0.6354	.	.	.	.	W	132;107	.	.	R	+	1	2	ATIC	215917833	0.120000	0.22244	0.954000	0.39281	0.844000	0.47949	-0.468000	0.06656	-0.482000	0.06782	-1.193000	0.01689	CGG		0.488	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		28	61	0	0	0	1	0	28	61				
RP11-451O13.1	0	broad.mit.edu	37	1	157895827	157895827	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:157895827G>A	ENST00000452528.1	+	0	64																											TGGCACTCACGGTCACAGGTG	0.557																																						ENST00000452528.1																			0																																																			0							g.chr1:157895827G>A																													1.37:g.157895827G>A														0	64	+									RNA	SNP	ENST00000452528.1	37																																																																																						0.557	RP11-451O13.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432264.1			11	18	0	0	0	1	0	11	18				
TNPO2	30000	broad.mit.edu	37	19	12817117	12817117	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12817117C>T	ENST00000592287.1	-	14	1669	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	TNPO2_ENST00000425528.1_Missense_Mutation_p.D521N|TNPO2_ENST00000356861.5_Missense_Mutation_p.D521N|TNPO2_ENST00000450764.2_Missense_Mutation_p.D521N|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000588216.1_Missense_Mutation_p.D521N|TNPO2_ENST00000441499.1_Missense_Mutation_p.D521N	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	521					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAAGGGTGTCCAGGATGTAG	0.587																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1561-1563)Gac>Aac		transportin 2							77.0	85.0	82.0					19																	12817117		2112	4238	6350	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12817117C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1561G>A	19.37:g.12817117C>T	ENSP00000468434:p.Asp521Asn					TNPO2_ENST00000356861.5_Missense_Mutation_p.D521N|TNPO2_ENST00000450764.2_Missense_Mutation_p.D521N|TNPO2_ENST00000441499.1_Missense_Mutation_p.D521N|TNPO2_ENST00000588216.1_Missense_Mutation_p.D521N|TNPO2_ENST00000592287.1_Missense_Mutation_p.D521N	p.D521N			O14787	TNPO2_HUMAN			15	1918	-			521					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1561G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767201	0.69878	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	N	0.20483	0.58	0.80722	D	1	B;B	0.15930	0.004;0.015	B;B	0.16289	0.015;0.015	T	0.49652	-0.8917	10	0.46703	T	0.11	-42.3078	18.8323	0.92145	0.0:1.0:0.0:0.0	.	685;521	Q4LE60;O14787	.;TNPO2_HUMAN	N	685;521;521;521;521;521;521	ENSP00000407182:D521N;ENSP00000389648:D521N;ENSP00000397379:D521N;ENSP00000349321:D521N	ENSP00000349321:D521N	D	-	1	0	TNPO2	12678117	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.461000	0.80834	2.755000	0.94549	0.655000	0.94253	GAC		0.587	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		19	72	0	0	0	1	0	19	72				
AGXT2	64902	broad.mit.edu	37	5	34998924	34998924	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:34998924C>T	ENST00000231420.6	-	14	1645	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	482					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GGGCGCAATGCGAAATGTCTG	0.368																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(1444-1446)cGc>cAc		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						139.0	122.0	128.0					5																	34998924		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:34998924C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1445G>A	5.37:g.34998924C>T	ENSP00000231420:p.Arg482His						p.R482H	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	14	1645	-	all_lung(31;4.52e-05)		482					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.1445G>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776954	0.70107	.	.	ENSG00000113492	ENST00000231420	T	0.23147	1.92	5.56	5.56	0.83823	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	M	0.93462	3.42	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.72629	-0.4235	10	0.87932	D	0	-7.0348	16.2556	0.82516	0.0:1.0:0.0:0.0	.	407;482	E9PDL7;Q9BYV1	.;AGT2_HUMAN	H	482	ENSP00000231420:R482H	ENSP00000231420:R482H	R	-	2	0	AGXT2	35034681	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	4.624000	0.61254	2.619000	0.88677	0.557000	0.71058	CGC		0.368	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		26	37	0	0	0	1	0	26	37				
POLE	5426	broad.mit.edu	37	12	133254167	133254167	+	Silent	SNP	G	G	A	rs567612169		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133254167G>A	ENST00000320574.5	-	7	760	c.717C>T	c.(715-717)caC>caT	p.H239H	POLE_ENST00000535270.1_Silent_p.H212H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	239					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CACTCACCACGTGGATCTTCA	0.498								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0008	0.0	5008	,	,		20312	0.0		0.0	False		,,,				2504	0.0					ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(715-717)caC>caT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							116.0	95.0	102.0					12																	133254167		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133254167G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.717C>T	12.37:g.133254167G>A						POLE_ENST00000535270.1_Silent_p.H212H	p.H239H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	7	760	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	239					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.717C>T	CCDS9278.1																																																																																				0.498	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		26	57	0	0	0	1	0	26	57				
PRSS55	203074	broad.mit.edu	37	8	10383214	10383214	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:10383214G>A	ENST00000328655.3	+	1	159	c.119G>A	c.(118-120)cGc>cAc	p.R40H	PRSS55_ENST00000522210.1_Missense_Mutation_p.R40H|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	40						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGAGCCCACCGCCCTCAGCCC	0.662																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(118-120)cGc>cAc		protease, serine, 55							39.0	34.0	36.0					8																	10383214		2202	4300	6502	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10383214G>A	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.119G>A	8.37:g.10383214G>A	ENSP00000333003:p.Arg40His					PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.R40H	p.R40H	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			1	159	+			40					E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.119G>A	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	4.157	0.027584	0.08054	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.88818	-2.43;-2.38	3.44	-6.52	0.01872	.	.	.	.	.	T	0.68504	0.3008	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59337	-0.7473	9	0.14656	T	0.56	.	11.5492	0.50711	0.2575:0.0:0.7425:0.0	.	40	Q6UWB4	PRS55_HUMAN	H	40	ENSP00000333003:R40H;ENSP00000430459:R40H	ENSP00000333003:R40H	R	+	2	0	PRSS55	10420624	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.012000	0.03649	-1.474000	0.01879	-1.288000	0.01363	CGC		0.662	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		13	23	0	0	0	1	0	13	23				
SEMA3F	6405	broad.mit.edu	37	3	50224060	50224060	+	Missense_Mutation	SNP	G	G	A	rs560306002		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50224060G>A	ENST00000002829.3	+	18	2312	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	SEMA3F_ENST00000413852.1_Missense_Mutation_p.V511M|SEMA3F_ENST00000434342.1_Missense_Mutation_p.V579M	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	610	Ig-like C2-type.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAAGAATGCCGTGGAGTCTGT	0.627																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(1828-1830)Gtg>Atg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							99.0	87.0	91.0					3																	50224060		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50224060G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1828G>A	3.37:g.50224060G>A	ENSP00000002829:p.Val610Met					SEMA3F_ENST00000434342.1_Missense_Mutation_p.V579M|SEMA3F_ENST00000413852.1_Missense_Mutation_p.V511M	p.V610M	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	18	2312	+			610			Ig-like C2-type.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.1828G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448878	0.63178	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.54071	0.66;0.59;0.66	5.89	4.09	0.47781	.	0.407368	0.27554	N	0.018855	T	0.50069	0.1594	L	0.50333	1.59	0.31677	N	0.643629	D;P	0.53885	0.963;0.753	P;B	0.45195	0.473;0.219	T	0.59963	-0.7355	10	0.48119	T	0.1	.	12.6348	0.56677	0.1368:0.0:0.8632:0.0	.	579;610	C9JQ85;Q13275	.;SEM3F_HUMAN	M	511;610;579	ENSP00000388931:V511M;ENSP00000002829:V610M;ENSP00000409859:V579M	ENSP00000002829:V610M	V	+	1	0	SEMA3F	50199064	0.986000	0.35501	0.702000	0.30337	0.990000	0.78478	2.017000	0.40981	0.810000	0.34279	0.655000	0.94253	GTG		0.627	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		22	68	0	0	0	1	0	22	68				
ZNF202	7753	broad.mit.edu	37	11	123596990	123596990	+	Silent	SNP	C	C	T	rs376072348		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123596990C>T	ENST00000529691.1	-	7	1881	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	ZNF202_ENST00000530393.1_Silent_p.A554A|ZNF202_ENST00000336139.4_Silent_p.A554A			O95125	ZN202_HUMAN	zinc finger protein 202	554					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCTTCCGGTGCGCCAGGTACC	0.577																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1660-1662)gcG>gcA		zinc finger protein 202		C		1,4403	2.1+/-5.4	0,1,2201	73.0	70.0	71.0		1662	-9.2	0.8	11		71	0,8598		0,0,4299	no	coding-synonymous	ZNF202	NM_003455.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		554/649	123596990	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123596990C>T	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1662G>A	11.37:g.123596990C>T						ZNF202_ENST00000530393.1_Silent_p.A554A|ZNF202_ENST00000529691.1_Silent_p.A554A	p.A554A			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	8	2024	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	554					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	c.1662G>A	CCDS8443.1																																																																																				0.577	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		61	69	0	0	0	1	0	61	69				
KIF7	374654	broad.mit.edu	37	15	90176401	90176401	+	Missense_Mutation	SNP	C	C	T	rs149548398		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:90176401C>T	ENST00000394412.3	-	13	2765	c.2689G>A	c.(2689-2691)Ggc>Agc	p.G897S		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	897					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCACAGAGCCGTTGCTGCCA	0.622																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2689-2691)Ggc>Agc		kinesin family member 7		C	SER/GLY	1,4399	2.1+/-5.4	0,1,2199	58.0	54.0	55.0		2689	5.0	1.0	15	dbSNP_134	55	1,8597	1.2+/-3.3	0,1,4298	no	missense	KIF7	NM_198525.2	56	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	897/1344	90176401	2,12996	2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90176401C>T	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2689G>A	15.37:g.90176401C>T	ENSP00000377934:p.Gly897Ser						p.G897S	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		13	2765	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		897					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.2689G>A	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734345	0.89482	2.27E-4	1.16E-4	ENSG00000166813	ENST00000394412	T	0.33216	1.42	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.919	T	0.38887	-0.9640	10	0.08599	T	0.76	.	17.8033	0.88595	0.0:1.0:0.0:0.0	.	383;897	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	S	897	ENSP00000377934:G897S	ENSP00000377934:G897S	G	-	1	0	KIF7	87977405	1.000000	0.71417	0.990000	0.47175	0.843000	0.47879	5.676000	0.68131	2.280000	0.76307	0.561000	0.74099	GGC		0.622	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		6	20	0	0	0	1	0	6	20				
FLNC	2318	broad.mit.edu	37	7	128483620	128483620	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:128483620G>A	ENST00000325888.8	+	18	3061	c.2800G>A	c.(2800-2802)Gct>Act	p.A934T	FLNC_ENST00000346177.6_Missense_Mutation_p.A934T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	934					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGTACACCGCTGTCCAGCA	0.612																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(2800-2802)Gct>Act		filamin C, gamma							88.0	95.0	93.0					7																	128483620		2145	4219	6364	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128483620G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2800G>A	7.37:g.128483620G>A	ENSP00000327145:p.Ala934Thr					FLNC_ENST00000346177.6_Missense_Mutation_p.A934T	p.A934T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			18	3061	+			934					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.2800G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759952	0.69763	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91577	-2.87;-2.87	5.32	4.41	0.53225	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.056620	0.64402	D	0.000001	D	0.94208	0.8141	M	0.63428	1.95	0.50313	D	0.999864	D;D	0.89917	1.0;0.986	D;P	0.87578	0.998;0.764	D	0.94621	0.7813	10	0.87932	D	0	.	15.1961	0.73088	0.0:0.2844:0.7156:0.0	.	934;934	Q14315-2;Q14315	.;FLNC_HUMAN	T	934	ENSP00000327145:A934T;ENSP00000344002:A934T	ENSP00000327145:A934T	A	+	1	0	FLNC	128270856	0.997000	0.39634	0.324000	0.25361	0.557000	0.35523	2.546000	0.45778	1.183000	0.42943	0.561000	0.74099	GCT		0.612	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			43	79	0	0	0	1	0	43	79				
SLC19A1	6573	broad.mit.edu	37	21	46951531	46951531	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951531C>T	ENST00000311124.4	-	3	873	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	SLC19A1_ENST00000380010.4_Missense_Mutation_p.A241T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A201T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A241T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	241					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	ACCCGCAGGGCGTGTCCCAGC	0.716																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(721-723)Gcc>Acc		solute carrier family 19 (folate transporter), member 1							33.0	40.0	37.0					21																	46951531		2199	4298	6497	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951531C>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.721G>A	21.37:g.46951531C>T	ENSP00000308895:p.Ala241Thr					SLC19A1_ENST00000567670.1_Missense_Mutation_p.A241T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A201T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A241T	p.A241T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	873	-			241					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.721G>A	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	C	2.734	-0.263656	0.05754	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649	D;D;D	0.85702	-2.02;-2.02;-2.02	3.65	-7.3	0.01446	Major facilitator superfamily domain, general substrate transporter (1);	1.404820	0.04566	N	0.392316	T	0.58708	0.2141	N	0.03608	-0.345	0.09310	N	1	B;B;D;B	0.54601	0.06;0.06;0.967;0.06	B;B;B;B	0.41135	0.017;0.017;0.348;0.009	T	0.63238	-0.6682	10	0.13470	T	0.59	-2.4863	2.5293	0.04699	0.1859:0.1006:0.1851:0.5284	.	201;263;241;241	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	T	241;241;201	ENSP00000308895:A241T;ENSP00000369347:A241T;ENSP00000441772:A201T	ENSP00000308895:A241T	A	-	1	0	SLC19A1	45775959	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.128000	0.10531	-2.170000	0.00776	0.306000	0.20318	GCC		0.716	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			69	60	0	0	0	1	0	69	60				
DHX30	22907	broad.mit.edu	37	3	47891361	47891361	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:47891361C>T	ENST00000445061.1	+	22	3743	c.3336C>T	c.(3334-3336)gaC>gaT	p.D1112D	DHX30_ENST00000348968.4_Silent_p.D1084D|DHX30_ENST00000446256.2_Silent_p.D1073D|DHX30_ENST00000457607.1_Silent_p.D1140D|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1112						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCTCAGATGACGGGCGCCGGG	0.692											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3217-3219)gaC>gaT		DEAH (Asp-Glu-Ala-His) box helicase 30							51.0	55.0	53.0					3																	47891361		2203	4300	6503	SO:0001819	synonymous_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47891361C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3336C>T	3.37:g.47891361C>T			OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	950	DHX30_ENST00000445061.1_Silent_p.D1112D|DHX30_ENST00000457607.1_Silent_p.D1140D|DHX30_ENST00000348968.4_Silent_p.D1084D	p.D1073D	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	23	3791	+			1112					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	c.3219C>T	CCDS2759.1																																																																																				0.692	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		5	150	0	0	0	1	0	5	150				
DNAH1	25981	broad.mit.edu	37	3	52407044	52407044	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52407044C>T	ENST00000420323.2	+	44	7221	c.6960C>T	c.(6958-6960)ggC>ggT	p.G2320G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2320	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGACCACGGCGGCTGGTACG	0.612																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(6958-6960)ggC>ggT		dynein, axonemal, heavy chain 1							44.0	49.0	47.0					3																	52407044		2071	4199	6270	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52407044C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6960C>T	3.37:g.52407044C>T							p.G2320G	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	44	7221	+			2320			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.6960C>T	CCDS46842.1																																																																																				0.612	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		10	44	0	0	0	1	0	10	44				
CDC16	8881	broad.mit.edu	37	13	115016143	115016143	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr13:115016143T>C	ENST00000356221.3	+	12	1199	c.1091T>C	c.(1090-1092)aTg>aCg	p.M364T	CDC16_ENST00000252458.6_Missense_Mutation_p.M270T|CDC16_ENST00000375308.1_Missense_Mutation_p.M270T|CDC16_ENST00000375312.3_Missense_Mutation_p.M270T|CDC16_ENST00000375310.1_Missense_Mutation_p.M270T|CDC16_ENST00000252457.5_Missense_Mutation_p.M363T|CDC16_ENST00000360383.3_Missense_Mutation_p.M364T			Q13042	CDC16_HUMAN	cell division cycle 16	364					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GCACAGCTGATGAAAGGGTAC	0.428																																						ENST00000360383.3																			0				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1090-1092)aTg>aCg		cell division cycle 16							92.0	77.0	82.0					13																	115016143		2203	4300	6503	SO:0001583	missense	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115016143T>C	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1091T>C	13.37:g.115016143T>C	ENSP00000348554:p.Met364Thr					CDC16_ENST00000356221.3_Missense_Mutation_p.M364T|CDC16_ENST00000252457.5_Missense_Mutation_p.M363T|CDC16_ENST00000252458.6_Missense_Mutation_p.M270T|CDC16_ENST00000375308.1_Missense_Mutation_p.M270T|CDC16_ENST00000375310.1_Missense_Mutation_p.M270T|CDC16_ENST00000375312.3_Missense_Mutation_p.M270T	p.M364T	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		12	1289	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	364					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.1091T>C	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161552	0.78226	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T;T;T;T;T;T	0.73469	0.71;-0.75;0.71;0.71;0.71;0.71;-0.75	5.94	4.77	0.60923	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.040488	0.85682	N	0.000000	D	0.84750	0.5541	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.992	D;D;D	0.80764	0.973;0.994;0.931	D	0.84812	0.0791	9	.	.	.	-13.0974	11.8334	0.52309	0.0:0.0678:0.0:0.9322	.	363;363;364	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	T	364;270;364;270;363;270;270	ENSP00000353549:M364T;ENSP00000364461:M270T;ENSP00000348554:M364T;ENSP00000364459:M270T;ENSP00000252457:M363T;ENSP00000364457:M270T;ENSP00000252458:M270T	.	M	+	2	0	CDC16	114034245	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.284000	0.78650	1.087000	0.41251	0.528000	0.53228	ATG		0.428	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		53	17	0	0	0	1	0	53	17				
SEZ6L2	26470	broad.mit.edu	37	16	29900012	29900012	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:29900012C>T	ENST00000308713.5	-	6	1415	c.888G>A	c.(886-888)ccG>ccA	p.P296P	SEZ6L2_ENST00000346932.5_Silent_p.P182P|SEZ6L2_ENST00000350527.3_Silent_p.P226P|SEZ6L2_ENST00000537485.1_Silent_p.P252P|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	296	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCATGGGCCGGCCGGGGAG	0.637																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(886-888)ccG>ccA		seizure related 6 homolog (mouse)-like 2							43.0	41.0	42.0					16																	29900012		2197	4300	6497	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29900012C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.888G>A	16.37:g.29900012C>T						SEZ6L2_ENST00000537485.1_Silent_p.P252P|SEZ6L2_ENST00000350527.3_Silent_p.P226P|SEZ6L2_ENST00000346932.5_Silent_p.P182P|SEZ6L2_ENST00000562159.1_5'UTR	p.P296P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			6	1415	-			296			Sushi 1.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.888G>A	CCDS10659.1																																																																																				0.637	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		14	75	0	0	0	1	0	14	75				
CABIN1	23523	broad.mit.edu	37	22	24479228	24479228	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24479228G>A	ENST00000398319.2	+	20	3181	c.2796G>A	c.(2794-2796)acG>acA	p.T932T	CABIN1_ENST00000405822.2_Silent_p.T882T|CABIN1_ENST00000263119.5_Silent_p.T932T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	932					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGACACGCACCCTTACA	0.582																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2794-2796)acG>acA		calcineurin binding protein 1							94.0	76.0	82.0					22																	24479228		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24479228G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2796G>A	22.37:g.24479228G>A						CABIN1_ENST00000405822.2_Silent_p.T882T|CABIN1_ENST00000263119.5_Silent_p.T932T	p.T932T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			20	3181	+			932					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.2796G>A	CCDS13823.1																																																																																				0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		40	50	0	0	0	1	0	40	50				
SPTBN2	6712	broad.mit.edu	37	11	66460877	66460877	+	Missense_Mutation	SNP	G	G	A	rs150801133	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66460877G>A	ENST00000533211.1	-	24	4965	c.4634C>T	c.(4633-4635)gCg>gTg	p.A1545V	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1545V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1545V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1545					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTCAGGTCCGCGATCCGGGG	0.627																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(4633-4635)gCg>gTg		spectrin, beta, non-erythrocytic 2		G	VAL/ALA	1,4399		0,1,2199	22.0	24.0	23.0		4634	3.4	0.9	11	dbSNP_134	23	5,8585	4.3+/-15.6	0,5,4290	yes	missense	SPTBN2	NM_006946.2	64	0,6,6489	AA,AG,GG		0.0582,0.0227,0.0462	benign	1545/2391	66460877	6,12984	2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460877G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4634C>T	11.37:g.66460877G>A	ENSP00000432568:p.Ala1545Val					SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1545V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1545V	p.A1545V			O15020	SPTN2_HUMAN			24	4965	-			1545					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.4634C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217187	0.58560	2.27E-4	5.82E-4	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.50548	0.74;0.74;0.74	4.34	3.4	0.38934	.	0.070003	0.64402	D	0.000018	T	0.27419	0.0673	N	0.20685	0.6	0.36982	D	0.894328	P	0.48089	0.905	B	0.36534	0.227	T	0.21381	-1.0247	10	0.38643	T	0.18	.	10.0278	0.42081	0.0:0.0:0.4979:0.5021	.	1545	O15020	SPTN2_HUMAN	V	1545	ENSP00000432568:A1545V;ENSP00000311489:A1545V;ENSP00000433593:A1545V	ENSP00000311489:A1545V	A	-	2	0	SPTBN2	66217453	0.996000	0.38824	0.898000	0.35279	0.752000	0.42762	3.796000	0.55507	1.004000	0.39156	0.462000	0.41574	GCG		0.627	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		9	35	0	0	0	1	0	9	35				
TMEM177	80775	broad.mit.edu	37	2	120439264	120439264	+	Missense_Mutation	SNP	G	G	A	rs562270009		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:120439264G>A	ENST00000424086.1	+	2	1308	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	TMEM177_ENST00000401466.1_Missense_Mutation_p.V279I|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.V279I	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	279						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CGGGAACATCGTCCCCAGACA	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17921	0.0		0.0	False		,,,				2504	0.0					ENST00000424086.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(835-837)Gtc>Atc		transmembrane protein 177							64.0	62.0	63.0					2																	120439264		2203	4300	6503	SO:0001583	missense	80775					integral to membrane		g.chr2:120439264G>A	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.835G>A	2.37:g.120439264G>A	ENSP00000402661:p.Val279Ile					TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.V279I|TMEM177_ENST00000401466.1_Missense_Mutation_p.V279I	p.V279I	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN			2	1308	+	Colorectal(110;0.196)		279					Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	c.835G>A	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	3.709	-0.059898	0.07317	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521	T;T;T	0.40756	1.02;1.02;1.02	4.84	-8.14	0.01069	.	0.448817	0.25324	N	0.031483	T	0.17066	0.0410	N	0.21583	0.68	0.09310	N	0.999993	B	0.10296	0.003	B	0.09377	0.004	T	0.19549	-1.0302	10	0.16420	T	0.52	-6.89	6.2698	0.20949	0.5263:0.0:0.3173:0.1564	.	279	Q53S58	TM177_HUMAN	I	279	ENSP00000385966:V279I;ENSP00000402661:V279I;ENSP00000272521:V279I	ENSP00000272521:V279I	V	+	1	0	TMEM177	120155734	0.770000	0.28543	0.001000	0.08648	0.327000	0.28475	0.158000	0.16422	-0.988000	0.03489	-1.079000	0.02226	GTC		0.582	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		95	95	0	0	0	1	0	95	95				
KDM2A	22992	broad.mit.edu	37	11	67012792	67012792	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67012792C>T	ENST00000529006.2	+	14	2142	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.R24W|KDM2A_ENST00000398645.2_Missense_Mutation_p.R566W|KDM2A_ENST00000530342.1_Missense_Mutation_p.R127W	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	566					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGGAGCCAGACGGAGACGAGT	0.552																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(1696-1698)Cgg>Tgg		lysine (K)-specific demethylase 2A							81.0	88.0	86.0					11																	67012792		2113	4233	6346	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67012792C>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1696C>T	11.37:g.67012792C>T	ENSP00000432786:p.Arg566Trp					KDM2A_ENST00000308783.5_Missense_Mutation_p.R24W|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.R127W|KDM2A_ENST00000398645.2_Missense_Mutation_p.R566W	p.R566W	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			14	2142	+			566					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.1696C>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676972	0.88445	.	.	ENSG00000173120	ENST00000398645;ENST00000529006;ENST00000530342;ENST00000446134;ENST00000308783	T;T;T;T	0.56611	0.45;1.75;1.34;1.37	5.44	4.49	0.54785	Zinc finger, CXXC-type (2);	0.000000	0.85682	D	0.000000	T	0.75027	0.3794	M	0.86953	2.85	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79150	-0.1922	10	0.87932	D	0	-15.2345	14.3133	0.66432	0.2572:0.7428:0.0:0.0	.	24;566	D4QA03;Q9Y2K7	.;KDM2A_HUMAN	W	566;566;127;127;24	ENSP00000381640:R566W;ENSP00000432786:R566W;ENSP00000435776:R127W;ENSP00000309302:R24W	ENSP00000309302:R24W	R	+	1	2	KDM2A	66769368	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.704000	0.61831	2.832000	0.97577	0.655000	0.94253	CGG		0.552	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		38	86	0	0	0	1	0	38	86				
RGN	9104	broad.mit.edu	37	X	46951573	46951573	+	Missense_Mutation	SNP	G	G	A	rs184658792		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:46951573G>A	ENST00000352078.4	+	6	1153	c.808G>A	c.(808-810)Gag>Aag	p.E270K	RGN_ENST00000336169.3_Missense_Mutation_p.E270K|RGN_ENST00000397180.1_Missense_Mutation_p.E270K|RGN_ENST00000457380.1_Missense_Mutation_p.E198K	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	270					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GATGGACCCCGAGGGTCTTTT	0.463													G|||	3	0.000794702	0.0	0.0	3775	,	,		12295	0.003		0.0	False		,,,				2504	0.0					ENST00000397180.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(808-810)Gag>Aag		regucalcin							62.0	61.0	62.0					X																	46951573		2201	4297	6498	SO:0001583	missense	9104				cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	g.chrX:46951573G>A	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"""senescence marker protein-30"", ""gluconolactonase"""	300212	"""regucalcin (senescence marker protein-30)"""			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.808G>A	X.37:g.46951573G>A	ENSP00000253303:p.Glu270Lys					RGN_ENST00000352078.4_Missense_Mutation_p.E270K|RGN_ENST00000457380.1_Missense_Mutation_p.E198K|RGN_ENST00000336169.3_Missense_Mutation_p.E270K	p.E270K	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN			7	1777	+			270					A4FTW1|A8K271|Q53FC9|Q5JRR5	Missense_Mutation	SNP	ENST00000352078.4	37	c.808G>A	CCDS14272.1	2	0.0012055455093429777	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.85	2.360906	0.41801	.	.	ENSG00000130988	ENST00000397180;ENST00000457380;ENST00000352078;ENST00000336169	.	.	.	5.61	3.79	0.43588	Six-bladed beta-propeller, TolB-like (1);	0.441485	0.25461	N	0.030506	T	0.39226	0.1070	L	0.55990	1.75	0.09310	N	0.999997	B;B	0.29115	0.233;0.003	B;B	0.17979	0.02;0.003	T	0.15235	-1.0444	9	0.23302	T	0.38	-26.2158	11.9421	0.52907	0.0:0.1285:0.7346:0.1369	.	198;270	Q15493-2;Q15493	.;RGN_HUMAN	K	270;198;270;270	.	ENSP00000338400:E270K	E	+	1	0	RGN	46836517	0.759000	0.28416	0.001000	0.08648	0.449000	0.32228	2.494000	0.45329	0.522000	0.28464	0.458000	0.33432	GAG		0.463	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056385.1	NM_004683		12	2	0	0	0	1	0	12	2				
SLC19A1	6573	broad.mit.edu	37	21	46951822	46951822	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951822C>T	ENST00000311124.4	-	3	582	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	SLC19A1_ENST00000380010.4_Missense_Mutation_p.V144M|SLC19A1_ENST00000485649.2_Missense_Mutation_p.V104M|SLC19A1_ENST00000567670.1_Missense_Mutation_p.V144M	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	144					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GCGGGCCGCACGAGAGAGAAG	0.667																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(430-432)Gtg>Atg		solute carrier family 19 (folate transporter), member 1							21.0	20.0	20.0					21																	46951822		2183	4287	6470	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951822C>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.430G>A	21.37:g.46951822C>T	ENSP00000308895:p.Val144Met					SLC19A1_ENST00000567670.1_Missense_Mutation_p.V144M|SLC19A1_ENST00000485649.2_Missense_Mutation_p.V104M|SLC19A1_ENST00000380010.4_Missense_Mutation_p.V144M	p.V144M	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	582	-			144					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.430G>A	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394881	0.62066	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649;ENST00000427839;ENST00000443742	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	4.95	4.95	0.65309	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	H	0.94808	3.585	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;0.998;0.998;0.998	D	0.97814	1.0252	10	0.87932	D	0	-40.3821	17.1012	0.86651	0.0:1.0:0.0:0.0	.	104;166;144;144	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	M	144;144;104;144;144	ENSP00000308895:V144M;ENSP00000369347:V144M;ENSP00000441772:V104M;ENSP00000401850:V144M;ENSP00000411345:V144M	ENSP00000308895:V144M	V	-	1	0	SLC19A1	45776250	1.000000	0.71417	0.113000	0.21522	0.002000	0.02628	5.683000	0.68189	2.460000	0.83146	0.462000	0.41574	GTG		0.667	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			5	9	0	0	0	1	0	5	9				
AK7	122481	broad.mit.edu	37	14	96864584	96864584	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:96864584C>T	ENST00000267584.4	+	2	322	c.278C>T	c.(277-279)gCg>gTg	p.A93V	AK7_ENST00000555570.1_Missense_Mutation_p.A93V|AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	93					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTGACTTTGCGGTGGAGACG	0.547																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(277-279)gCg>gTg		adenylate kinase 7							85.0	76.0	79.0					14																	96864584		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96864584C>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.278C>T	14.37:g.96864584C>T	ENSP00000267584:p.Ala93Val					AK7_ENST00000555570.1_Missense_Mutation_p.A93V|AK7_ENST00000554313.1_3'UTR	p.A93V	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	2	322	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	93					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.278C>T	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	C	7.743	0.701701	0.15172	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.52526	0.66	5.18	5.18	0.71444	.	0.272597	0.35151	N	0.003417	T	0.53465	0.1798	L	0.31294	0.92	0.39606	D	0.969801	B;D	0.89917	0.081;1.0	B;D	0.83275	0.015;0.996	T	0.43360	-0.9396	10	0.02654	T	1	-20.8039	18.2805	0.90096	0.0:1.0:0.0:0.0	.	93;93	Q96M32;G3V365	KAD7_HUMAN;.	V	93	ENSP00000267584:A93V	ENSP00000267584:A93V	A	+	2	0	AK7	95934337	0.998000	0.40836	0.233000	0.24025	0.072000	0.16883	4.969000	0.63735	2.445000	0.82738	0.491000	0.48974	GCG		0.547	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			50	34	0	0	0	1	0	50	34				
NOP14	8602	broad.mit.edu	37	4	2943380	2943380	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2943380C>T	ENST00000314262.6	-	15	2176	c.2128G>A	c.(2128-2130)Gcc>Acc	p.A710T	NOP14-AS1_ENST00000507999.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.A710T|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000507120.1_5'UTR|NOP14_ENST00000502735.1_Missense_Mutation_p.A710T|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.A710T|NOP14-AS1_ENST00000512802.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	710					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCCATGATGGCGTGGAAGGAT	0.662																																						ENST00000416614.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						c.(2128-2130)Gcc>Acc		NOP14 nucleolar protein							49.0	50.0	49.0					4																	2943380		2202	4300	6502	SO:0001583	missense	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2943380C>T	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.2128G>A	4.37:g.2943380C>T	ENSP00000315674:p.Ala710Thr					NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.A710T|NOP14_ENST00000502735.1_Missense_Mutation_p.A710T|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.A710T|NOP14_ENST00000507120.1_5'UTR|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA	p.A710T			P78316	NOP14_HUMAN			15	2193	-			710					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.2128G>A	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	C	4.325	0.059589	0.08339	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.5	3.74	0.42951	.	0.708848	0.14281	N	0.329535	T	0.15478	0.0373	N	0.04508	-0.205	0.09310	N	1	B;B	0.22346	0.068;0.068	B;B	0.13407	0.009;0.005	T	0.19257	-1.0311	10	0.87932	D	0	-12.7827	10.0943	0.42466	0.0:0.7861:0.1382:0.0757	.	710;710	E9PFK5;P78316	.;NOP14_HUMAN	T	710	ENSP00000405068:A710T;ENSP00000315674:A710T;ENSP00000427415:A710T;ENSP00000381146:A710T	ENSP00000315674:A710T	A	-	1	0	NOP14	2913178	0.183000	0.23186	0.005000	0.12908	0.129000	0.20672	0.548000	0.23314	0.775000	0.33450	0.655000	0.94253	GCC		0.662	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		19	33	0	0	0	1	0	19	33				
PLEC	5339	broad.mit.edu	37	8	144991396	144991396	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144991396C>T	ENST00000322810.4	-	32	13173	c.13004G>A	c.(13003-13005)cGc>cAc	p.R4335H	PLEC_ENST00000398774.2_Missense_Mutation_p.R4166H|PLEC_ENST00000356346.3_Missense_Mutation_p.R4184H|PLEC_ENST00000345136.3_Missense_Mutation_p.R4198H|PLEC_ENST00000354958.2_Missense_Mutation_p.R4176H|PLEC_ENST00000527096.1_Missense_Mutation_p.R4221H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4202H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4198H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4225H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4335	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						GCGCCCGGAGCGGCGGTCGAT	0.637																																						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.(13003-13005)cGc>cAc		plectin							49.0	58.0	55.0					8																	144991396		2104	4216	6320	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991396C>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.13004G>A	8.37:g.144991396C>T	ENSP00000323856:p.Arg4335His					PLEC_ENST00000354958.2_Missense_Mutation_p.R4176H|PLEC_ENST00000527096.1_Missense_Mutation_p.R4221H|PLEC_ENST00000398774.2_Missense_Mutation_p.R4166H|PLEC_ENST00000356346.3_Missense_Mutation_p.R4184H|PLEC_ENST00000345136.3_Missense_Mutation_p.R4198H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4198H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4225H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4202H	p.R4335H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13173	-			4335			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13004G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.421159	0.42918	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.24	5.24	0.73138	.	0.000000	0.64402	U	0.000010	T	0.79003	0.4373	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.999;0.999;0.999;0.999	T	0.80266	-0.1454	10	0.87932	D	0	.	18.6231	0.91328	0.0:1.0:0.0:0.0	.	4225;4184;4176;4335;4166;4198;4202;4198	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	4198;4202;4198;4166;4335;4176;4184;4225;4221	ENSP00000344848:R4198H;ENSP00000350277:R4202H;ENSP00000346602:R4198H;ENSP00000381756:R4166H;ENSP00000323856:R4335H;ENSP00000347044:R4176H;ENSP00000348702:R4184H;ENSP00000388180:R4225H;ENSP00000434583:R4221H	ENSP00000323856:R4335H	R	-	2	0	PLEC	145063384	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.880000	0.69698	2.726000	0.93360	0.549000	0.68633	CGC		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		21	47	0	0	0	1	0	21	47				
ZMYM3	9203	broad.mit.edu	37	X	70464210	70464210	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:70464210C>A	ENST00000353904.2	-	20	3409	c.3222G>T	c.(3220-3222)tgG>tgT	p.W1074C	ZMYM3_ENST00000373984.3_Missense_Mutation_p.W1076C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.W1074C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.W1076C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Missense_Mutation_p.W1062C	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1074					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGACTGCACCCAGCACTTCC	0.557																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3184-3186)tgG>tgT		zinc finger, MYM-type 3							103.0	76.0	85.0					X																	70464210		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70464210C>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3222G>T	X.37:g.70464210C>A	ENSP00000343909:p.Trp1074Cys					ZMYM3_ENST00000353904.2_Missense_Mutation_p.W1074C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.W1076C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.W1074C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.W1076C	p.W1062C	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			20	3883	-	Renal(35;0.156)		1074					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3186G>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.221333	0.79464	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.76448	-0.4;-1.02;-0.4;-0.76;-0.35	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000002	D	0.87613	0.6221	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.89063	0.3464	10	0.87932	D	0	-9.5826	17.6344	0.88118	0.0:1.0:0.0:0.0	.	1062;1074	Q14202-2;Q14202	.;ZMYM3_HUMAN	C	1074;1062;1074;1076;1076	ENSP00000322845:W1074C;ENSP00000363110:W1062C;ENSP00000343909:W1074C;ENSP00000363096:W1076C;ENSP00000363100:W1076C	ENSP00000322845:W1074C	W	-	3	0	ZMYM3	70380935	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.870000	0.75526	2.350000	0.79820	0.529000	0.55759	TGG		0.557	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		19	22	1	0	4.96729e-08	1	5.04788e-08	19	22				
SLC36A1	206358	broad.mit.edu	37	5	150856223	150856223	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150856223G>A	ENST00000243389.3	+	9	1118	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	SLC36A1_ENST00000520701.1_Missense_Mutation_p.V299I|SLC36A1_ENST00000521925.1_Missense_Mutation_p.V299I|RNA5SP197_ENST00000363357.1_RNA	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	299					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CATGGTCATCGTCACCATCCT	0.517																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(895-897)Gtc>Atc		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)						166.0	135.0	146.0					5																	150856223		2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150856223G>A	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.895G>A	5.37:g.150856223G>A	ENSP00000243389:p.Val299Ile					SLC36A1_ENST00000520701.1_Missense_Mutation_p.V299I|SLC36A1_ENST00000521925.1_Missense_Mutation_p.V299I	p.V299I	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1118	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	299					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.895G>A	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	7.818	0.717226	0.15372	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.02525	4.26;4.26;4.26;4.26	5.76	-7.42	0.01388	.	0.559992	0.19689	N	0.108324	T	0.02455	0.0075	N	0.25031	0.7	0.24431	N	0.994573	B;B	0.16603	0.018;0.008	B;B	0.23716	0.048;0.03	T	0.18840	-1.0324	10	0.39692	T	0.17	.	19.4373	0.94801	0.1571:0.0:0.8429:0.0	.	299;299	E7EW39;Q7Z2H8	.;S36A1_HUMAN	I	299;299;299;299;58	ENSP00000428140:V299I;ENSP00000243389:V299I;ENSP00000430305:V299I;ENSP00000428738:V58I	ENSP00000243389:V299I	V	+	1	0	SLC36A1	150836416	0.579000	0.26725	0.002000	0.10522	0.002000	0.02628	0.863000	0.27913	-1.611000	0.01581	-0.136000	0.14681	GTC		0.517	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		54	82	0	0	0	1	0	54	82				
GPR35	2859	broad.mit.edu	37	2	241570136	241570136	+	Missense_Mutation	SNP	G	G	A	rs554457295		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241570136G>A	ENST00000319838.5	+	6	1709	c.767G>A	c.(766-768)cGc>cAc	p.R256H	GPR35_ENST00000430267.1_Missense_Mutation_p.R256H|GPR35_ENST00000438013.2_Missense_Mutation_p.R287H|GPR35_ENST00000403859.1_Missense_Mutation_p.R256H|GPR35_ENST00000407714.1_Missense_Mutation_p.R256H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	256					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACGATCCGTCGCGCCCTGTAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17708	0.0		0.0	False		,,,				2504	0.001					ENST00000319838.5																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(766-768)cGc>cAc		G protein-coupled receptor 35							145.0	123.0	130.0					2																	241570136		2203	4300	6503	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241570136G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.767G>A	2.37:g.241570136G>A	ENSP00000322731:p.Arg256His					GPR35_ENST00000430267.1_Missense_Mutation_p.R256H|GPR35_ENST00000438013.2_Missense_Mutation_p.R287H|GPR35_ENST00000407714.1_Missense_Mutation_p.R256H|GPR35_ENST00000403859.1_Missense_Mutation_p.R256H	p.R256H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1709	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	256					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.767G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112721	0.06881	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	3.34	-6.69	0.01772	GPCR, rhodopsin-like superfamily (1);	4.386660	0.00769	N	0.001198	T	0.32315	0.0825	L	0.39245	1.2	0.09310	N	1	D;D;P	0.56521	0.976;0.972;0.925	P;P;B	0.51806	0.68;0.652;0.439	T	0.46148	-0.9212	10	0.14656	T	0.56	0.3407	4.3961	0.11363	0.3557:0.0:0.3151:0.3292	.	341;287;256	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	H	256;256;287;256;256	ENSP00000322731:R256H;ENSP00000385140:R256H;ENSP00000415890:R287H;ENSP00000384263:R256H;ENSP00000411788:R256H	ENSP00000322731:R256H	R	+	2	0	GPR35	241218809	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.340000	0.00506	-2.252000	0.00699	0.305000	0.20034	CGC		0.622	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		124	145	0	0	0	1	0	124	145				
ELF3	1999	broad.mit.edu	37	1	201982319	201982319	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201982319G>A	ENST00000359651.3	+	6	3890	c.698G>A	c.(697-699)cGt>cAt	p.R233H	ELF3_ENST00000367284.5_Missense_Mutation_p.R233H|RP11-465N4.4_ENST00000419190.1_RNA|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.R233H					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATGGTTTTCGTGACTGCAAG	0.597																																						ENST00000359651.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(697-699)cGt>cAt		E74-like factor 3 (ets domain transcription factor, epithelial-specific )							61.0	61.0	61.0					1																	201982319		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201982319G>A	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.698G>A	1.37:g.201982319G>A	ENSP00000352673:p.Arg233His					ELF3_ENST00000367284.5_Missense_Mutation_p.R233H|ELF3_ENST00000367283.3_Missense_Mutation_p.R233H|RP11-510N19.5_ENST00000504773.1_RNA	p.R233H			P78545	ELF3_HUMAN			6	3890	+			233						Missense_Mutation	SNP	ENST00000359651.3	37	c.698G>A	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671306	0.29693	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.44083	2.53;2.53;2.53;0.93	5.37	2.51	0.30379	.	2.080710	0.04561	U	0.391554	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	B	0.21225	0.053	B	0.04013	0.001	T	0.21075	-1.0256	10	0.13470	T	0.59	.	4.4665	0.11691	0.0:0.5344:0.162:0.3036	.	233	P78545	ELF3_HUMAN	H	233;233;233;210;231	ENSP00000352673:R233H;ENSP00000356253:R233H;ENSP00000356252:R233H;ENSP00000405162:R231H	ENSP00000311348:R210H	R	+	2	0	ELF3	200248942	0.000000	0.05858	0.008000	0.14137	0.057000	0.15508	0.607000	0.24209	0.266000	0.21894	-0.228000	0.12330	CGT		0.597	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		44	58	0	0	0	1	0	44	58				
SLC9A5	6553	broad.mit.edu	37	16	67289369	67289369	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67289369G>A	ENST00000299798.11	+	4	793	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	243					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TACCTGAAGGGAGTCGGTCAG	0.587																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(727-729)gGa>gAa		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							69.0	71.0	70.0					16																	67289369		2088	4211	6299	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67289369G>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.728G>A	16.37:g.67289369G>A	ENSP00000299798:p.Gly243Glu					SLC9A5_ENST00000561472.2_3'UTR	p.G243E	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	4	793	+		Ovarian(137;0.0563)	243					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.728G>A	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412465	0.96072	.	.	ENSG00000135740	ENST00000299798	T	0.16196	2.36	5.97	5.97	0.96955	Cation/H+ exchanger (1);	0.051701	0.85682	D	0.000000	T	0.49525	0.1562	M	0.89785	3.06	0.80722	D	1	D	0.58620	0.983	P	0.60473	0.875	T	0.56565	-0.7958	10	0.87932	D	0	.	19.4161	0.94700	0.0:0.0:1.0:0.0	.	243	Q14940	SL9A5_HUMAN	E	243	ENSP00000299798:G243E	ENSP00000299798:G243E	G	+	2	0	SLC9A5	65846870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.747000	0.91610	2.837000	0.97791	0.655000	0.94253	GGA		0.587	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			56	60	0	0	0	1	0	56	60				
EHMT1	79813	broad.mit.edu	37	9	140706066	140706066	+	Splice_Site	SNP	G	G	A	rs181347484	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:140706066G>A	ENST00000460843.1	+	19	2893	c.2866G>A	c.(2866-2868)Gtc>Atc	p.V956I		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	956					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGACTGTGTCGTGTGAGTGCA	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		19788	0.002		0.0	False		,,,				2504	0.0					ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.e19+1		euchromatic histone-lysine N-methyltransferase 1							58.0	48.0	51.0					9																	140706066		2203	4300	6503	SO:0001630	splice_region_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140706066G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2867+1G>A	9.37:g.140706066G>A							p.V956_splice	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	19	2893	+	all_cancers(76;0.164)		956					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Splice_Site	SNP	ENST00000460843.1	37	c.2867_splice	CCDS7050.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.13	2.743035	0.49151	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.63744	-0.06	5.06	4.16	0.48862	Ankyrin repeat-containing domain (4);	0.228773	0.44902	D	0.000420	T	0.44746	0.1308	N	0.21282	0.65	0.80722	D	1	B	0.22414	0.069	B	0.19946	0.027	T	0.30794	-0.9966	10	0.30078	T	0.28	.	9.2473	0.37534	0.0772:0.1564:0.7664:0.0	.	956	Q9H9B1	EHMT1_HUMAN	I	925;956	ENSP00000417980:V956I	ENSP00000360453:V925I	V	+	1	0	EHMT1	139825887	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	4.447000	0.60020	1.228000	0.43614	0.655000	0.94253	GTC		0.642	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757	Missense_Mutation	41	50	0	0	0	1	0	41	50				
ABCA4	24	broad.mit.edu	37	1	94512531	94512531	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:94512531G>A	ENST00000370225.3	-	19	2948	c.2862C>T	c.(2860-2862)taC>taT	p.Y954Y	ABCA4_ENST00000535735.1_Silent_p.Y880Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	954	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTGGTTCTCGTAGAAGGTGA	0.552																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2860-2862)taC>taT		ATP-binding cassette, sub-family A (ABC1), member 4							147.0	149.0	148.0					1																	94512531		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512531G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2862C>T	1.37:g.94512531G>A						ABCA4_ENST00000535735.1_Silent_p.Y880Y	p.Y954Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2948	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	954			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2862C>T	CCDS747.1																																																																																				0.552	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		123	186	0	0	0	1	0	123	186				
LPAL2	80350	broad.mit.edu	37	6	160888579	160888579	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:160888579G>A	ENST00000335388.5	-	0	1677					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TTACTTGTTCGGAAGGAGCCT	0.507																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5																																														0							g.chr6:160888579G>A	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160888579G>A								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	1677	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																						0.507	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		33	18	0	0	0	1	0	33	18				
CCDC181	57821	broad.mit.edu	37	1	169364358	169364358	+	Missense_Mutation	SNP	C	C	T	rs557950843		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:169364358C>T	ENST00000367806.3	-	6	1609	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	CCDC181_ENST00000367805.3_Missense_Mutation_p.R485H|BLZF1_ENST00000329281.2_Intron|CCDC181_ENST00000545005.1_Missense_Mutation_p.R485H	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	486						nucleus (GO:0005634)											CTGTTTAGAACGCTTAGCTTC	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		17652	0.001		0.0	False		,,,				2504	0.0					ENST00000545005.1																			0											c.(1453-1455)cGt>cAt		coiled-coil domain containing 181							153.0	141.0	145.0					1																	169364358		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169364358C>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1457G>A	1.37:g.169364358C>T	ENSP00000356780:p.Arg486His					CCDC181_ENST00000367806.3_Missense_Mutation_p.R486H|BLZF1_ENST00000329281.2_Intron|CCDC181_ENST00000367805.3_Missense_Mutation_p.R485H	p.R485H							7	1961	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.1454G>A		.	.	.	.	.	.	.	.	.	.	C	13.66	2.303446	0.40795	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005	T;T;T	0.31510	1.49;1.49;1.49	6.07	1.14	0.20703	.	0.157965	0.53938	N	0.000046	T	0.10078	0.0247	L	0.43152	1.355	0.09310	N	1	B;B	0.29805	0.257;0.257	B;B	0.26202	0.067;0.067	T	0.16364	-1.0405	10	0.46703	T	0.11	0.4533	10.8989	0.47040	0.0:0.7022:0.0:0.2978	.	486;485	Q5TID7;Q5TID7-3	CA114_HUMAN;.	H	485;486;485	ENSP00000356779:R485H;ENSP00000356780:R486H;ENSP00000442297:R485H	ENSP00000356779:R485H	R	-	2	0	C1orf114	167630982	0.993000	0.37304	0.008000	0.14137	0.965000	0.64279	0.308000	0.19314	-0.025000	0.13918	-0.122000	0.15005	CGT		0.398	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		39	58	0	0	0	1	0	39	58				
TRPM5	29850	broad.mit.edu	37	11	2428525	2428525	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:2428525G>A	ENST00000155858.6	-	20	2950	c.2942C>T	c.(2941-2943)aCg>aTg	p.T981M	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000528453.1_Missense_Mutation_p.T981M|TRPM5_ENST00000533060.1_Missense_Mutation_p.T981M|TRPM5_ENST00000452833.1_Missense_Mutation_p.T983M	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACCTGGAACGTGTAGCTGCA	0.642																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2947-2949)aCg>aTg		transient receptor potential cation channel, subfamily M, member 5							64.0	46.0	52.0					11																	2428525		2201	4298	6499	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2428525G>A	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2942C>T	11.37:g.2428525G>A	ENSP00000155858:p.Thr981Met					TRPM5_ENST00000528453.1_Missense_Mutation_p.T981M|TRPM5_ENST00000155858.6_Missense_Mutation_p.T981M|TRPM5_ENST00000533060.1_Missense_Mutation_p.T981M|AC124057.5_ENST00000433035.1_RNA	p.T983M			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	20	2956	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	981						Missense_Mutation	SNP	ENST00000155858.6	37	c.2948C>T	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.910022	0.72983	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	3.26	3.26	0.37387	.	0.131953	0.49916	D	0.000126	T	0.80618	0.4657	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.85215	0.1023	10	0.87932	D	0	-16.4368	14.3637	0.66789	0.0:0.0:1.0:0.0	.	981;983;981	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	M	975;981;983;981;981	ENSP00000434383:T975M;ENSP00000155858:T981M;ENSP00000387965:T983M;ENSP00000434121:T981M;ENSP00000436809:T981M	ENSP00000155858:T981M	T	-	2	0	TRPM5	2385101	1.000000	0.71417	0.996000	0.52242	0.885000	0.51271	6.177000	0.71961	1.780000	0.52325	0.511000	0.50034	ACG		0.642	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		18	15	0	0	0	1	0	18	15				
CROCCP2	84809	broad.mit.edu	37	1	16957459	16957459	+	lincRNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:16957459G>A	ENST00000412962.1	-	0	219							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TGAGCAGGCCGGGGAGGGGCC	0.701																																						ENST00000412962.1																			0																																																			0							g.chr1:16957459G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16957459G>A														0	219	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.701	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	5	0	0	0	1	0	4	5				
MARK1	4139	broad.mit.edu	37	1	220791991	220791991	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220791991G>A	ENST00000366917.4	+	9	1069	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	MARK1_ENST00000402574.1_Missense_Mutation_p.R133Q|MARK1_ENST00000366918.4_Missense_Mutation_p.R246Q					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTGCGAGAGCGAGTTTTACGA	0.353																																						ENST00000402574.1																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(397-399)cGa>cAa		MAP/microtubule affinity-regulating kinase 1							99.0	100.0	100.0					1																	220791991		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220791991G>A	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.803G>A	1.37:g.220791991G>A	ENSP00000355884:p.Arg268Gln					MARK1_ENST00000366917.4_Missense_Mutation_p.R268Q|MARK1_ENST00000366918.4_Missense_Mutation_p.R246Q	p.R133Q	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	9	1400	+			268			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.398G>A	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039459	0.75617	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.65364	-0.15;-0.15;-0.15	5.85	4.94	0.65067	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.60222	0.2252	N	0.04297	-0.235	0.80722	D	1	P;P;D;D	0.76494	0.911;0.865;0.999;0.999	B;B;D;D	0.69824	0.341;0.215;0.956;0.966	T	0.71666	-0.4524	10	0.87932	D	0	.	15.0792	0.72103	0.068:0.0:0.932:0.0	.	268;133;268;246	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	Q	133;246;268	ENSP00000386017:R133Q;ENSP00000355885:R246Q;ENSP00000355884:R268Q	ENSP00000355884:R268Q	R	+	2	0	MARK1	218858614	1.000000	0.71417	0.953000	0.39169	0.057000	0.15508	7.954000	0.87848	1.481000	0.48307	0.655000	0.94253	CGA		0.353	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			31	72	0	0	0	1	0	31	72				
CDH23	64072	broad.mit.edu	37	10	73461953	73461953	+	Missense_Mutation	SNP	G	G	A	rs181275139	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:73461953G>A	ENST00000224721.6	+	22	2592	c.2587G>A	c.(2587-2589)Gtc>Atc	p.V863I	CDH23_ENST00000299366.7_Missense_Mutation_p.V903I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	858	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAAAATCGTCGTCTCTGTTAC	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		18705	0.002		0.0	False		,,,				2504	0.0					ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(2587-2589)Gtc>Atc		cadherin-related 23		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4244		0,0,2122	115.0	133.0	127.0		2572,2572,2572	2.7	0.6	10		127	2,8400		0,2,4199	yes	missense,missense,missense	CDH23	NM_001171930.1,NM_001171931.1,NM_022124.5	29,29,29	0,2,6321	AA,AG,GG		0.0238,0.0,0.0158	possibly-damaging,possibly-damaging,possibly-damaging	858/1382,858/1062,858/3355	73461953	2,12644	2122	4201	6323	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73461953G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2587G>A	10.37:g.73461953G>A	ENSP00000224721:p.Val863Ile					CDH23_ENST00000299366.7_Missense_Mutation_p.V903I	p.V863I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			22	2592	+			858			Cadherin 8.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.2587G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.067	0.567564	0.13560	0.0	2.38E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.56	2.65	0.31530	Cadherin (4);Cadherin-like (1);	0.250608	0.32935	N	0.005479	T	0.24699	0.0599	N	0.03903	-0.33	0.80722	D	1	B;B;B	0.21147	0.052;0.015;0.012	B;B;B	0.18871	0.023;0.004;0.016	T	0.03000	-1.1084	9	0.33141	T	0.24	.	6.2818	0.21011	0.2129:0.1335:0.6536:0.0	.	858;861;858	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	I	863;858;858;861;861;375	.	ENSP00000224721:V863I	V	+	1	0	CDH23	73131959	0.011000	0.17503	0.622000	0.29159	0.136000	0.21042	0.104000	0.15313	0.280000	0.22209	0.561000	0.74099	GTC		0.657	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		40	178	0	0	0	1	0	40	178				
GPRIN1	114787	broad.mit.edu	37	5	176025905	176025905	+	Nonsense_Mutation	SNP	C	C	A	rs147380779	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176025905C>A	ENST00000303991.4	-	2	1108	c.931G>T	c.(931-933)Gga>Tga	p.G311*		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	311					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGTCTTTCCTGTGGACGCA	0.572																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(931-933)Gga>Tga		G protein regulated inducer of neurite outgrowth 1							64.0	72.0	69.0					5																	176025905		2203	4300	6503	SO:0001587	stop_gained	114787					growth cone|plasma membrane		g.chr5:176025905C>A	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.931G>T	5.37:g.176025905C>A	ENSP00000305839:p.Gly311*						p.G311*	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1108	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	311					C9JM70|Q8ND74|Q96PZ4	Nonsense_Mutation	SNP	ENST00000303991.4	37	c.931G>T	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075303	0.94000	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	.	.	.	5.14	3.35	0.38373	.	1.289510	0.05834	N	0.618064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	0.3884	9.1578	0.37002	0.0:0.8203:0.0:0.1797	.	.	.	.	X	311	.	ENSP00000305839:G311X	G	-	1	0	GPRIN1	175958511	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.282000	0.33226	0.558000	0.29135	0.462000	0.41574	GGA		0.572	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		64	115	1	0	6.75472e-32	1	6.96707e-32	64	115				
FGD2	221472	broad.mit.edu	37	6	36978766	36978766	+	Silent	SNP	C	C	T	rs367720858		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:36978766C>T	ENST00000274963.8	+	3	489	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	106	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAAGAAGATCGTCCAGGAGC	0.612																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(316-318)atC>atT		FYVE, RhoGEF and PH domain containing 2		C		0,4406		0,0,2203	73.0	75.0	74.0		318	-2.7	1.0	6		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FGD2	NM_173558.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		106/656	36978766	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36978766C>T	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.318C>T	6.37:g.36978766C>T							p.I106I	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			3	489	+			106			DH.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.318C>T	CCDS4829.1																																																																																				0.612	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		12	72	0	0	0	1	0	12	72				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	73	0	0	0	1	0	5	73				
ANO7	50636	broad.mit.edu	37	2	242148714	242148714	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242148714C>T	ENST00000274979.8	+	12	1357	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	ANO7_ENST00000402430.3_Silent_p.F417F	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	418					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCCGGCTGTTCGACCACGGCG	0.647																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(1252-1254)ttC>ttT		anoctamin 7							17.0	15.0	16.0					2																	242148714		2177	4248	6425	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242148714C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1254C>T	2.37:g.242148714C>T						ANO7_ENST00000402430.3_Silent_p.F417F	p.F418F	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			12	1357	+			418					Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.1254C>T	CCDS33423.1																																																																																				0.647	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		4	12	0	0	0	1	0	4	12				
CDH4	1002	broad.mit.edu	37	20	60503309	60503309	+	Silent	SNP	C	C	T	rs368405359		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60503309C>T	ENST00000360469.5	+	12	1921	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	CDH4_ENST00000543233.1_Silent_p.N537N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	611	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCAACGACAACGCCCCTGAGC	0.627																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1831-1833)aaC>aaT		cadherin 4, type 1, R-cadherin (retinal)		C		1,4405	2.1+/-5.4	0,1,2202	131.0	141.0	138.0		1833	-7.0	0.8	20		138	0,8600		0,0,4300	no	coding-synonymous	CDH4	NM_001794.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		611/917	60503309	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60503309C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1833C>T	20.37:g.60503309C>T						CDH4_ENST00000543233.1_Silent_p.N537N	p.N611N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		12	1921	+			611			Cadherin 4.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.1833C>T	CCDS13488.1																																																																																				0.627	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		82	354	0	0	0	1	0	82	354				
UROC1	131669	broad.mit.edu	37	3	126216983	126216983	+	Missense_Mutation	SNP	C	C	T	rs200384323		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:126216983C>T	ENST00000290868.2	-	14	1402	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	450			R -> C (in UROD; loss of activity). {ECO:0000269|PubMed:19304569}.		cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCACACCCAGCGGAAAGGCCC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17660	0.0		0.001	False		,,,				2504	0.0					ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1348-1350)cGc>cAc		urocanate hydratase 1		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	144.0	155.0	151.0		1529,1349	3.5	1.0	3		151	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	UROC1	NM_001165974.1,NM_144639.2	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	510/737,450/677	126216983	3,13003	2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126216983C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1349G>A	3.37:g.126216983C>T	ENSP00000290868:p.Arg450His					UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	p.R450H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	14	1402	-			450		R -> C (in UROD; loss of activity).			E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1349G>A	CCDS3038.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.2	4.109398	0.77096	2.27E-4	2.33E-4	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.65916	-0.18;-0.18	4.4	3.52	0.40303	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87253	0.2274	10	0.87932	D	0	-9.3123	10.1803	0.42963	0.0:0.9002:0.0:0.0998	.	510;450	E9PE13;Q96N76	.;HUTU_HUMAN	H	450;510	ENSP00000290868:R450H;ENSP00000373073:R510H	ENSP00000290868:R450H	R	-	2	0	UROC1	127699673	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.588000	0.67517	0.851000	0.35264	0.491000	0.48974	CGC		0.627	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		12	360	0	0	0	1	0	12	360				
INSC	387755	broad.mit.edu	37	11	15197574	15197574	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:15197574G>A	ENST00000379554.3	+	3	531	c.485G>A	c.(484-486)cGc>cAc	p.R162H	INSC_ENST00000424273.1_Missense_Mutation_p.R115H|INSC_ENST00000528567.1_Missense_Mutation_p.R115H|INSC_ENST00000525218.1_Missense_Mutation_p.R115H|INSC_ENST00000379556.3_Missense_Mutation_p.R115H|INSC_ENST00000530161.1_Missense_Mutation_p.R115H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	162					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCCATGCCCGCTCCATGGTC	0.622																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(484-486)cGc>cAc		inscuteable homolog (Drosophila)							17.0	18.0	18.0					11																	15197574		2056	4210	6266	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15197574G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.485G>A	11.37:g.15197574G>A	ENSP00000368872:p.Arg162His					INSC_ENST00000379556.3_Missense_Mutation_p.R115H|INSC_ENST00000530161.1_Missense_Mutation_p.R115H|INSC_ENST00000424273.1_Missense_Mutation_p.R115H|INSC_ENST00000525218.1_Missense_Mutation_p.R115H|INSC_ENST00000528567.1_Missense_Mutation_p.R115H	p.R162H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			3	531	+			162					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.485G>A	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310243	0.60414	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.38722	1.12;1.16;1.14;1.12;1.16;1.14	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	L	0.56769	1.78	0.52099	D	0.999944	P;P;P;P	0.47604	0.898;0.552;0.76;0.76	B;B;B;B	0.38327	0.271;0.104;0.147;0.147	T	0.42899	-0.9424	10	0.54805	T	0.06	-23.1518	13.7979	0.63182	0.0762:0.0:0.9238:0.0	.	115;115;115;162	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	H	162;115;115;115;115;115;115	ENSP00000368872:R162H;ENSP00000368874:R115H;ENSP00000389161:R115H;ENSP00000435022:R115H;ENSP00000436194:R115H;ENSP00000436113:R115H	ENSP00000368872:R162H	R	+	2	0	INSC	15154150	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.424000	0.59868	2.360000	0.80028	0.462000	0.41574	CGC		0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		6	10	0	0	0	1	0	6	10				
KMT2D	8085	broad.mit.edu	37	12	49445202	49445202	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49445202C>T	ENST00000301067.7	-	10	2263	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	755	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTCCTCAGGCCGGGGGGACAG	0.687																																						ENST00000301067.7																			0											c.(2263-2265)cGg>cAg		lysine (K)-specific methyltransferase 2D							20.0	23.0	22.0					12																	49445202		1721	3769	5490	SO:0001583	missense	8085							g.chr12:49445202C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2264G>A	12.37:g.49445202C>T	ENSP00000301067:p.Arg755Gln						p.R755Q	NM_003482.3	NP_003473.3					10	2263	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.2264G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498285	0.26861	.	.	ENSG00000167548	ENST00000301067	T	0.33216	1.42	3.14	-6.28	0.02020	.	.	.	.	.	T	0.08802	0.0218	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28870	-1.0030	9	0.87932	D	0	.	1.4228	0.02316	0.3089:0.3696:0.1683:0.1531	.	755	O14686	MLL2_HUMAN	Q	755	ENSP00000301067:R755Q	ENSP00000301067:R755Q	R	-	2	0	MLL2	47731469	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-4.403000	0.00239	-2.754000	0.00373	-0.440000	0.05779	CGG		0.687	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			42	73	0	0	0	1	0	42	73				
ZNF618	114991	broad.mit.edu	37	9	116811427	116811427	+	Silent	SNP	C	C	T	rs573623027		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116811427C>T	ENST00000374126.5	+	15	1944	c.1845C>T	c.(1843-1845)taC>taT	p.Y615Y	ZNF618_ENST00000288466.7_Silent_p.Y522Y|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	615					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGACAGTGTACGTGACGGATT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		23311	0.001		0.0	False		,,,				2504	0.0					ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1564-1566)taC>taT		zinc finger protein 618							115.0	114.0	114.0					9																	116811427		2196	4279	6475	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811427C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1845C>T	9.37:g.116811427C>T						ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.Y615Y	p.Y522Y	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	1665	+			615					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.1566C>T																																																																																					0.612	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		27	195	0	0	0	1	0	27	195				
SPG7	6687	broad.mit.edu	37	16	89614459	89614459	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89614459G>A	ENST00000268704.2	+	12	1616	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	534					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CACGCGGCGCGGGAGGGACAC	0.642																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1600-1602)cGg>cAg		spastic paraplegia 7 (pure and complicated autosomal recessive)							116.0	109.0	111.0					16																	89614459		2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89614459G>A	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1601G>A	16.37:g.89614459G>A	ENSP00000268704:p.Arg534Gln						p.R534Q	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	12	1616	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	534					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1601G>A	CCDS10977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.756538|4.756538	0.89843|0.89843	.|.	.|.	ENSG00000197912|ENSG00000197912	ENST00000312613|ENST00000268704	.|D	.|0.95171	.|-3.63	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Peptidase M41, FtsH (2);	.|0.090008	.|0.85682	.|D	.|0.000000	D|D	0.97399|0.97399	0.9149|0.9149	M|M	0.90309|0.90309	3.105|3.105	0.80722|0.80722	D|D	1|1	.|D	.|0.59357	.|0.985	.|P	.|0.58130	.|0.833	D|D	0.98039|0.98039	1.0381|1.0381	6|10	0.87932|0.87932	D|D	0|0	-19.4315|-19.4315	19.3041|19.3041	0.94153|0.94153	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|534	.|Q9UQ90	.|SPG7_HUMAN	R|Q	9|534	.|ENSP00000268704:R534Q	ENSP00000310320:G9R|ENSP00000268704:R534Q	G|R	+|+	1|2	0|0	SPG7|SPG7	88141960|88141960	1.000000|1.000000	0.71417|0.71417	0.767000|0.767000	0.31495|0.31495	0.030000|0.030000	0.12068|0.12068	9.472000|9.472000	0.97709|0.97709	2.570000|2.570000	0.86706|0.86706	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.642	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		49	221	0	0	0	1	0	49	221				
TSPAN15	23555	broad.mit.edu	37	10	71258152	71258152	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:71258152G>A	ENST00000373290.2	+	5	692	c.570G>A	c.(568-570)acG>acA	p.T190T	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	190					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						TCAGGAACACGGTAGACACTG	0.587																																						ENST00000373290.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						c.e5+1		tetraspanin 15							50.0	41.0	44.0					10																	71258152		2203	4300	6503	SO:0001630	splice_region_variant	23555					integral to plasma membrane|membrane fraction		g.chr10:71258152G>A	AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"""Tetraspanins"""	23298	protein-coding gene	gene with protein product		613140	"""transmembrane 4 superfamily member 15"""	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.570+1G>A	10.37:g.71258152G>A						TSPAN15_ENST00000459981.1_3'UTR	p.T190_splice	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN			5	692	+			190					Q6UW79	Splice_Site	SNP	ENST00000373290.2	37	c.570_splice	CCDS7294.1																																																																																				0.587	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048444.1	NM_012339	Silent	29	43	0	0	0	1	0	29	43				
SFI1	9814	broad.mit.edu	37	22	32000374	32000374	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32000374C>T	ENST00000400288.2	+	19	2066	c.1961C>T	c.(1960-1962)gCg>gTg	p.A654V	SFI1_ENST00000443326.1_Missense_Mutation_p.A572V|SFI1_ENST00000540643.1_Missense_Mutation_p.A599V|SFI1_ENST00000443011.1_Missense_Mutation_p.A501V|SFI1_ENST00000432498.1_Missense_Mutation_p.A623V|SFI1_ENST00000400289.1_Missense_Mutation_p.A572V|SFI1_ENST00000414585.1_Missense_Mutation_p.A501V	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	654	Interaction with CETN2.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGCACAGGGCGCTGCAGGCA	0.602											OREG0003526	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(1867-1869)gCg>gTg		Sfi1 homolog, spindle assembly associated (yeast)							12.0	16.0	15.0					22																	32000374		2091	4227	6318	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32000374C>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1961C>T	22.37:g.32000374C>T	ENSP00000383145:p.Ala654Val		OREG0003526	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	829	SFI1_ENST00000414585.1_Missense_Mutation_p.A501V|SFI1_ENST00000443011.1_Missense_Mutation_p.A501V|SFI1_ENST00000443326.1_Missense_Mutation_p.A572V|SFI1_ENST00000400288.2_Missense_Mutation_p.A654V|SFI1_ENST00000400289.1_Missense_Mutation_p.A572V|SFI1_ENST00000540643.1_Missense_Mutation_p.A599V	p.A623V	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			18	2261	+			654					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.1868C>T	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684555	0.29872	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.4	-0.804	0.10882	.	0.519621	0.18751	N	0.132180	T	0.25382	0.0617	N	0.08118	0	0.09310	N	1	P;B;D;P;B;P	0.89917	0.591;0.217;1.0;0.591;0.398;0.733	B;B;D;B;B;B	0.76071	0.049;0.032;0.987;0.061;0.04;0.23	T	0.10823	-1.0613	10	0.37606	T	0.19	.	4.7647	0.13127	0.0:0.4305:0.1564:0.4131	.	599;572;572;623;654;630	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	V	623;599;572;630;501;501;572;654	ENSP00000402679:A623V;ENSP00000443025:A599V;ENSP00000416469:A572V;ENSP00000397148:A501V;ENSP00000401199:A501V;ENSP00000383146:A572V;ENSP00000383145:A654V	ENSP00000383145:A654V	A	+	2	0	SFI1	30330374	0.000000	0.05858	0.105000	0.21289	0.176000	0.22953	-0.215000	0.09279	0.216000	0.20781	-0.251000	0.11542	GCG		0.602	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		3	7	0	0	0	1	0	3	7				
GPR20	2843	broad.mit.edu	37	8	142367203	142367203	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:142367203G>A	ENST00000377741.3	-	2	911	c.821C>T	c.(820-822)aCg>aTg	p.T274M	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	274					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACGAGGCTCGTGTGGTGTGG	0.637																																						ENST00000377741.3																			0				NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15						c.(820-822)aCg>aTg		G protein-coupled receptor 20							61.0	47.0	52.0					8																	142367203		2203	4300	6503	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367203G>A	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.821C>T	8.37:g.142367203G>A	ENSP00000366970:p.Thr274Met						p.T274M	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	911	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		274					Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.821C>T	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	G	5.206	0.223515	0.09863	.	.	ENSG00000204882	ENST00000377741	T	0.72615	-0.67	4.84	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.532577	0.17861	U	0.159536	T	0.55049	0.1896	L	0.31207	0.915	0.09310	N	1	P	0.44344	0.833	B	0.42112	0.376	T	0.43360	-0.9396	10	0.35671	T	0.21	-0.627	6.1711	0.20418	0.4768:0.0:0.5232:0.0	.	274	Q99678	GPR20_HUMAN	M	274	ENSP00000366970:T274M	ENSP00000366970:T274M	T	-	2	0	GPR20	142436385	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	1.024000	0.30077	0.445000	0.26639	0.462000	0.41574	ACG		0.637	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		11	45	0	0	0	1	0	11	45				
SUV420H1	51111	broad.mit.edu	37	11	67925272	67925272	+	Silent	SNP	G	G	A	rs371668215		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67925272G>A	ENST00000304363.4	-	11	2894	c.2541C>T	c.(2539-2541)gaC>gaT	p.D847D		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	847					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAATAAAATCGTCTTCAAAGT	0.403																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2539-2541)gaC>gaT		suppressor of variegation 4-20 homolog 1 (Drosophila)		G		0,4400		0,0,2200	90.0	92.0	91.0		2541	-3.5	0.4	11		91	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	SUV420H1	NM_017635.3		0,1,6493	AA,AG,GG		0.0116,0.0,0.0077		847/886	67925272	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925272G>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2541C>T	11.37:g.67925272G>A							p.D847D	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			11	2894	-			847					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	ENST00000304363.4	37	c.2541C>T	CCDS31623.1																																																																																				0.403	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		39	43	0	0	0	1	0	39	43				
PTGS2	5743	broad.mit.edu	37	1	186645692	186645692	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:186645692G>A	ENST00000367468.5	-	7	1013	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	293					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTGTGTTCCCGCAGCCAGATT	0.507																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(877-879)Cgg>Tgg		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						142.0	131.0	135.0					1																	186645692		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645692G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.877C>T	1.37:g.186645692G>A	ENSP00000356438:p.Arg293Trp					PTGS2_ENST00000490885.2_5'UTR	p.R293W	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			7	1013	-			293					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.877C>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661102	0.67700	.	.	ENSG00000073756	ENST00000367468	D	0.81499	-1.5	5.51	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94695	0.7877	10	0.87932	D	0	-21.2931	13.7625	0.62975	0.0:0.0:0.6055:0.3945	.	293;293	Q8IZA9;P35354	.;PGH2_HUMAN	W	293	ENSP00000356438:R293W	ENSP00000356438:R293W	R	-	1	2	PTGS2	184912315	0.980000	0.34600	0.944000	0.38274	0.794000	0.44872	1.795000	0.38784	1.321000	0.45227	-0.158000	0.13435	CGG		0.507	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		70	95	0	0	0	1	0	70	95				
FBN3	84467	broad.mit.edu	37	19	8188415	8188415	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8188415C>T	ENST00000600128.1	-	24	3429	c.3015G>A	c.(3013-3015)acG>acA	p.T1005T	FBN3_ENST00000270509.2_Silent_p.T1005T|FBN3_ENST00000601739.1_Silent_p.T1005T			Q75N90	FBN3_HUMAN	fibrillin 3	1005	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCTGCCCACCGTGTTTCTGC	0.607																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(3013-3015)acG>acA		fibrillin 3							72.0	69.0	70.0					19																	8188415		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8188415C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3015G>A	19.37:g.8188415C>T						FBN3_ENST00000270509.2_Silent_p.T1005T|FBN3_ENST00000601739.1_Silent_p.T1005T	p.T1005T			Q75N90	FBN3_HUMAN			24	3429	-			1005			EGF-like 12; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.3015G>A	CCDS12196.1																																																																																				0.607	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		40	35	0	0	0	1	0	40	35				
TLX2	3196	broad.mit.edu	37	2	74742798	74742798	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74742798C>A	ENST00000233638.7	+	2	762	c.439C>A	c.(439-441)Cac>Aac	p.H147N		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	147					enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						CCGCATAGGCCACCCCTACCA	0.652																																					Esophageal Squamous(7;240 533 18610 24312)	ENST00000233638.7																			0				kidney(1)|ovary(1)	2						c.(439-441)Cac>Aac		T-cell leukemia homeobox 2							54.0	62.0	59.0					2																	74742798		2203	4300	6503	SO:0001583	missense	3196					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74742798C>A	AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"""Homeoboxes / ANTP class : NKL subclass"""	5057	protein-coding gene	gene with protein product		604240	"""homeo box 11-like 1"", ""T-cell leukemia, homeobox 2"""	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.439C>A	2.37:g.74742798C>A	ENSP00000233638:p.His147Asn						p.H147N	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN			2	762	+			147					Q9UD56|Q9UQ48	Missense_Mutation	SNP	ENST00000233638.7	37	c.439C>A	CCDS1947.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158807	0.57368	.	.	ENSG00000115297	ENST00000233638	D	0.95518	-3.73	4.29	3.41	0.39046	Homeodomain-like (1);	0.221231	0.29609	N	0.011675	D	0.93667	0.7977	M	0.78049	2.395	0.45139	D	0.998155	B	0.32526	0.374	B	0.30716	0.119	D	0.90928	0.4788	10	0.28530	T	0.3	.	11.2182	0.48838	0.1847:0.8153:0.0:0.0	.	147	O43763	TLX2_HUMAN	N	147	ENSP00000233638:H147N	ENSP00000233638:H147N	H	+	1	0	TLX2	74596306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.814000	0.69208	1.006000	0.39211	0.655000	0.94253	CAC		0.652	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252224.3			36	116	1	0	4.14481e-20	1	4.26872e-20	36	116				
SLC25A31	83447	broad.mit.edu	37	4	128651877	128651877	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:128651877C>T	ENST00000281154.4	+	1	345	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	59					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						AGATCAGCCCCGAGGCGCGGT	0.701																																						ENST00000281154.4																			0				NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						c.(175-177)ccC>ccT		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31							39.0	37.0	38.0					4																	128651877		2203	4300	6503	SO:0001819	synonymous_variant	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128651877C>T	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.177C>T	4.37:g.128651877C>T							p.P59P	NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN			1	345	+			59						Silent	SNP	ENST00000281154.4	37	c.177C>T	CCDS3733.1																																																																																				0.701	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		37	50	0	0	0	1	0	37	50				
SLC25A22	79751	broad.mit.edu	37	11	800359	800359	+	5'Flank	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:800359G>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Missense_Mutation_p.R712W|PIDD_ENST00000411829.2_Intron	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAGCCTCCCGGTCCAGAGTG	0.632																																					Colon(93;848 1468 3270 23355 49636)	ENST00000347755.5																			0											c.(2134-2136)Cgg>Tgg		p53-induced death domain protein							54.0	53.0	53.0					11																	800359		2202	4299	6501	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:800359G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800359G>A	Exception_encountered					PIDD_ENST00000411829.2_Intron	p.R712W	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			13	2275	-			712					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000531214.1	37	c.2134C>T	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243288	0.58995	.	.	ENSG00000177595	ENST00000347755	T	0.43294	0.95	4.14	3.14	0.36123	.	0.238566	0.34110	N	0.004243	T	0.46249	0.1383	L	0.27053	0.805	0.33760	D	0.621677	D;D	0.89917	1.0;1.0	D;D	0.72338	0.952;0.977	T	0.58020	-0.7710	10	0.66056	D	0.02	.	9.0707	0.36491	0.0:0.0:0.5968:0.4032	.	712;555	Q9HB75;Q9HB75-3	PIDD_HUMAN;.	W	712	ENSP00000337797:R712W	ENSP00000337797:R712W	R	-	1	2	PIDD	790359	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	2.155000	0.42301	2.135000	0.66039	0.462000	0.41574	CGG		0.632	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			36	81	0	0	0	1	0	36	81				
FAT3	120114	broad.mit.edu	37	11	92568224	92568224	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:92568224G>A	ENST00000298047.6	+	14	10077	c.10060G>A	c.(10060-10062)Gcc>Acc	p.A3354T	FAT3_ENST00000409404.2_Missense_Mutation_p.A3354T|FAT3_ENST00000525166.1_Missense_Mutation_p.A3204T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3354	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGTGAAGACGCCTTGGTGGG	0.483										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10060-10062)Gcc>Acc		FAT atypical cadherin 3							47.0	48.0	47.0					11																	92568224		1939	4145	6084	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92568224G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10060G>A	11.37:g.92568224G>A	ENSP00000298047:p.Ala3354Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.A3204T|FAT3_ENST00000409404.2_Missense_Mutation_p.A3354T	p.A3354T			Q8TDW7	FAT3_HUMAN			14	10077	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3354			Cadherin 31.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10060G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.467291	0.96257	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02682	4.2;4.2;4.2	5.46	5.46	0.80206	.	.	.	.	.	T	0.12050	0.0293	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02560	-1.1141	9	0.42905	T	0.14	.	19.3231	0.94250	0.0:0.0:1.0:0.0	.	3354	Q8TDW7-3	.	T	3354;3354;3204	ENSP00000298047:A3354T;ENSP00000387040:A3354T;ENSP00000432586:A3204T	ENSP00000298047:A3354T	A	+	1	0	FAT3	92207872	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	6.626000	0.74253	2.539000	0.85634	0.655000	0.94253	GCC		0.483	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	33	0	0	0	1	0	3	33				
SLCO4A1	28231	broad.mit.edu	37	20	61288352	61288352	+	Silent	SNP	G	G	A	rs147575435		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:61288352G>A	ENST00000370507.1	+	1	642	c.546G>A	c.(544-546)acG>acA	p.T182T	SLCO4A1_ENST00000217159.1_Silent_p.T182T			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	182					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTATGGGCACGGGGTCGCTGG	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16948	0.0		0.0	False		,,,				2504	0.0				Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(544-546)acG>acA		solute carrier organic anion transporter family, member 4A1							45.0	41.0	43.0					20																	61288352		2202	4298	6500	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61288352G>A	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.546G>A	20.37:g.61288352G>A						SLCO4A1_ENST00000370507.1_Silent_p.T182T	p.T182T	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		2	751	+	Breast(26;3.65e-08)		182					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.546G>A	CCDS13501.1																																																																																				0.687	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		13	103	0	0	0	1	0	13	103				
SOAT1	6646	broad.mit.edu	37	1	179310292	179310292	+	Silent	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:179310292C>G	ENST00000367619.3	+	7	770	c.627C>G	c.(625-627)ggC>ggG	p.G209G	SOAT1_ENST00000539888.1_Silent_p.G144G|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Silent_p.G151G	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	209					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGGCCACTGGCTATAGCAAGA	0.428																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(625-627)ggC>ggG		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						232.0	213.0	220.0					1																	179310292		2203	4300	6503	SO:0001819	synonymous_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179310292C>G	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.627C>G	1.37:g.179310292C>G						SOAT1_ENST00000540564.1_Silent_p.G151G|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Silent_p.G144G	p.G209G	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			7	770	+			209					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	c.627C>G	CCDS1330.1																																																																																				0.428	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		98	183	0	0	0	1	0	98	183				
DCLK3	85443	broad.mit.edu	37	3	36779958	36779958	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:36779958C>T	ENST00000416516.2	-	2	683	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	65						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGCAACTTCGCTGCAGCTC	0.612																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(193-195)Gaa>Aaa		doublecortin-like kinase 3							91.0	95.0	94.0					3																	36779958		1952	4136	6088	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779958C>T	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.193G>A	3.37:g.36779958C>T	ENSP00000394484:p.Glu65Lys						p.E65K	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			2	683	-			65						Missense_Mutation	SNP	ENST00000416516.2	37	c.193G>A	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	9.782	1.175598	0.21704	.	.	ENSG00000163673	ENST00000416516	T	0.69175	-0.38	4.7	3.77	0.43336	.	0.259976	0.20264	N	0.095801	T	0.51686	0.1689	L	0.32530	0.975	0.09310	N	1	P	0.39404	0.672	B	0.28553	0.091	T	0.56649	-0.7944	10	0.62326	D	0.03	.	15.1689	0.72854	0.0:0.8589:0.1411:0.0	.	65	Q9C098	DCLK3_HUMAN	K	65	ENSP00000394484:E65K	ENSP00000394484:E65K	E	-	1	0	DCLK3	36754962	0.086000	0.21541	0.010000	0.14722	0.033000	0.12548	1.270000	0.33086	2.339000	0.79563	0.655000	0.94253	GAA		0.612	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		180	45	0	0	0	1	0	180	45				
MAN2B2	23324	broad.mit.edu	37	4	6588894	6588894	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6588894G>A	ENST00000285599.3	+	4	599	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	MAN2B2_ENST00000504248.1_Splice_Site_p.R188Q	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	188					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CAGGAGGCCCGGGTGAGTGGT	0.642																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.e4+1		mannosidase, alpha, class 2B, member 2							31.0	31.0	31.0					4																	6588894		2203	4300	6503	SO:0001630	splice_region_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6588894G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.564+1G>A	4.37:g.6588894G>A						MAN2B2_ENST00000504248.1_Splice_Site_p.R188_splice	p.R188_splice	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			4	599	+			188					Q66MP2|Q86T67	Splice_Site	SNP	ENST00000285599.3	37	c.564_splice	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.833|3.833	-0.035439|-0.035439	0.07497|0.07497	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|T;T	.|0.73047	.|-0.71;-0.71	4.05|4.05	1.1|1.1	0.20463|0.20463	.|Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	.|0.431473	.|0.25660	.|N	.|0.029149	T|T	0.36524|0.36524	0.0970|0.0970	N|N	0.01576|0.01576	-0.805|-0.805	0.26766|0.26766	N|N	0.969907|0.969907	.|B;B;B	.|0.09022	.|0.001;0.001;0.002	.|B;B;B	.|0.13407	.|0.005;0.005;0.009	T|T	0.27839|0.27839	-1.0062|-1.0062	5|10	.|0.16896	.|T	.|0.51	-10.1176|-10.1176	7.9454|7.9454	0.29982|0.29982	0.8234:0.0:0.1766:0.0|0.8234:0.0:0.1766:0.0	.|.	.|188;188;188	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	R|Q	187|188	.|ENSP00000285599:R188Q;ENSP00000423129:R188Q	.|ENSP00000285599:R188Q	G|R	+|+	1|2	0|0	MAN2B2|MAN2B2	6639795|6639795	1.000000|1.000000	0.71417|0.71417	0.831000|0.831000	0.32960|0.32960	0.147000|0.147000	0.21601|0.21601	3.280000|3.280000	0.51677|0.51677	0.085000|0.085000	0.17107|0.17107	-1.141000|-1.141000	0.01876|0.01876	GGG|CGG		0.642	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274	Missense_Mutation	22	42	0	0	0	1	0	22	42				
IL21R	50615	broad.mit.edu	37	16	27445714	27445714	+	Silent	SNP	G	G	A	rs187217568	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:27445714G>A	ENST00000337929.3	+	3	569	c.96G>A	c.(94-96)acG>acA	p.T32T	IL21R_ENST00000564089.1_Silent_p.T32T|IL21R_ENST00000395754.4_Silent_p.T32T|IL21R_ENST00000395755.1_Silent_p.T32T	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	32	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACCTCCAGACGGTCATCTGCA	0.632			T	BCL6	NHL								g|||	3	0.000599042	0.0	0.0029	5008	,	,		16940	0.0		0.0	False		,,,				2504	0.001					ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(94-96)acG>acA		interleukin 21 receptor							117.0	92.0	100.0					16																	27445714		2197	4300	6497	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27445714G>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.96G>A	16.37:g.27445714G>A						IL21R_ENST00000564089.1_Silent_p.T32T|IL21R_ENST00000395755.1_Silent_p.T32T|IL21R_ENST00000395754.4_Silent_p.T32T	p.T32T	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			3	569	+			32					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.96G>A	CCDS10630.1																																																																																				0.632	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		46	43	0	0	0	1	0	46	43				
ACSL1	2180	broad.mit.edu	37	4	185724474	185724474	+	Splice_Site	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:185724474C>A	ENST00000515030.1	-	2	520	c.195G>T	c.(193-195)gcG>gcT	p.A65A	ACSL1_ENST00000507295.1_Splice_Site_p.A65A|ACSL1_ENST00000513317.1_Splice_Site_p.A65A|ACSL1_ENST00000281455.2_Splice_Site_p.A65A|ACSL1_ENST00000504342.1_Splice_Site_p.A65A|ACSL1_ENST00000454703.2_Intron|ACSL1_ENST00000504900.1_Splice_Site_p.A65A|ACSL1_ENST00000437665.3_5'UTR			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	65					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCCACTCACCGCCACTTCCA	0.557																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.e2+1		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						48.0	47.0	47.0					4																	185724474		2203	4300	6503	SO:0001630	splice_region_variant	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185724474C>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.195+1G>T	4.37:g.185724474C>A						ACSL1_ENST00000454703.2_Intron|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000504900.1_Splice_Site_p.A65_splice|ACSL1_ENST00000281455.2_Splice_Site_p.A65_splice|ACSL1_ENST00000507295.1_Splice_Site_p.A65_splice|ACSL1_ENST00000513317.1_Splice_Site_p.A65_splice|ACSL1_ENST00000504342.1_Splice_Site_p.A65_splice	p.A65_splice			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	2	520	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	65					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Splice_Site	SNP	ENST00000515030.1	37	c.195_splice	CCDS3839.1																																																																																				0.557	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995	Silent	12	15	1	0	7.03913e-09	1	7.17449e-09	12	15				
TSG101	7251	broad.mit.edu	37	11	18503252	18503252	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18503252G>A	ENST00000251968.3	-	9	1423	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N	TSG101_ENST00000536719.1_Silent_p.N336N|TSG101_ENST00000357193.3_Silent_p.N231N	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	336	SB. {ECO:0000255|PROSITE- ProRule:PRU00644}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTTCAATAGCGTTTTCTTCTG	0.388																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1006-1008)aaC>aaT		tumor susceptibility 101							156.0	148.0	150.0					11																	18503252		2199	4293	6492	SO:0001819	synonymous_variant	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18503252G>A	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.1008C>T	11.37:g.18503252G>A						TSG101_ENST00000357193.3_Silent_p.N231N|TSG101_ENST00000251968.3_Silent_p.N336N	p.N336N			Q99816	TS101_HUMAN			9	1142	-			336			SB.		Q9BUM5	Silent	SNP	ENST00000251968.3	37	c.1008C>T	CCDS7842.1																																																																																				0.388	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		36	58	0	0	0	1	0	36	58				
ZGLP1	100125288	broad.mit.edu	37	19	10419252	10419252	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:10419252G>A	ENST00000403903.3	-	1	1304	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	CTD-2369P2.10_ENST00000452032.2_Intron|ZGLP1_ENST00000403352.1_Intron|FDX1L_ENST00000492239.1_5'Flank|FDX1L_ENST00000541276.1_Intron	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	36					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GTGGGGTCACGTTTTCTTGGG	0.617																																						ENST00000403903.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						c.(106-108)Cgt>Tgt		zinc finger, GATA-like protein 1							41.0	48.0	46.0					19																	10419252		1986	4144	6130	SO:0001583	missense	100125288				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:10419252G>A	AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"""GATA zinc finger domain containing"""	37245	protein-coding gene	gene with protein product	"""GATA like protein 1"", ""GATA zinc finger domain containing 3"""	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.106C>T	19.37:g.10419252G>A	ENSP00000384434:p.Arg36Cys					CTD-2369P2.10_ENST00000452032.2_Intron|FDX1L_ENST00000541276.1_Intron|ZGLP1_ENST00000403352.1_Intron	p.R36C	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN			1	1304	-			36						Missense_Mutation	SNP	ENST00000403903.3	37	c.106C>T	CCDS45959.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869228	0.32977	.	.	ENSG00000220201	ENST00000403903	D	0.98135	-4.74	3.2	-0.524	0.11920	.	.	.	.	.	D	0.91952	0.7451	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	D	0.84650	0.0700	9	0.45353	T	0.12	0.2998	5.1421	0.14965	0.0:0.4531:0.4173:0.1296	.	36	P0C6A0	ZGLP1_HUMAN	C	36	ENSP00000384434:R36C	ENSP00000384434:R36C	R	-	1	0	ZGLP1	10280252	0.000000	0.05858	0.000000	0.03702	0.729000	0.41735	-1.128000	0.03247	-0.109000	0.12044	-1.262000	0.01453	CGT		0.617	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325278.1	NM_001103167		12	23	0	0	0	1	0	12	23				
HECW1	23072	broad.mit.edu	37	7	43484733	43484733	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:43484733C>T	ENST00000395891.2	+	11	2567	c.1962C>T	c.(1960-1962)acC>acT	p.T654T	HECW1_ENST00000453890.1_Silent_p.T654T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	654					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCCCAGCACCGGGAGCGAGA	0.716																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1960-1962)acC>acT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							17.0	23.0	21.0					7																	43484733		2136	4221	6357	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484733C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1962C>T	7.37:g.43484733C>T						HECW1_ENST00000453890.1_Silent_p.T654T	p.T654T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2567	+			654					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1962C>T	CCDS5469.2																																																																																				0.716	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		33	47	0	0	0	1	0	33	47				
NPR3	4883	broad.mit.edu	37	5	32739001	32739001	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:32739001C>T	ENST00000265074.8	+	3	1267	c.924C>T	c.(922-924)caC>caT	p.H308H	NPR3_ENST00000415167.2_Silent_p.H308H|NPR3_ENST00000415685.2_Silent_p.H92H|NPR3_ENST00000434067.2_Silent_p.H92H	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	308					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.H308H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGACAAACACGACTTTGAAG	0.428																																						ENST00000265074.8																			1	Substitution - coding silent(1)	p.H308H(1)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(922-924)caC>caT		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						133.0	127.0	129.0					5																	32739001		1886	4121	6007	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32739001C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.924C>T	5.37:g.32739001C>T						NPR3_ENST00000415685.2_Silent_p.H92H|NPR3_ENST00000434067.2_Silent_p.H92H|NPR3_ENST00000415167.2_Silent_p.H308H	p.H308H	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			3	1267	+			308					A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.924C>T	CCDS56357.1																																																																																				0.428	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		49	90	0	0	0	1	0	49	90				
MSX1	4487	broad.mit.edu	37	4	4864532	4864532	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:4864532C>T	ENST00000382723.4	+	2	808	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	192					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCGCAAGTTCCGCCAGAAGCA	0.657																																						ENST00000382723.4																			0				endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(574-576)Cgc>Tgc		msh homeobox 1							47.0	55.0	52.0					4																	4864532		2202	4300	6502	SO:0001583	missense	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864532C>T	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.574C>T	4.37:g.4864532C>T	ENSP00000372170:p.Arg192Cys					MSX1_ENST00000468421.1_3'UTR	p.R192C	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	808	+			186					A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	c.574C>T	CCDS3378.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587735	0.86851	.	.	ENSG00000163132	ENST00000382723	D	0.96459	-4.02	4.84	4.84	0.62591	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	L	0.37750	1.13	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96834	0.9613	10	0.87932	D	0	-7.2992	13.3187	0.60421	0.1581:0.8419:0.0:0.0	.	186	P28360	MSX1_HUMAN	C	192	ENSP00000372170:R192C	ENSP00000372170:R192C	R	+	1	0	MSX1	4915433	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.968000	0.49224	2.391000	0.81399	0.462000	0.41574	CGC		0.657	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			11	168	0	0	0	1	0	11	168				
STAP1	26228	broad.mit.edu	37	4	68447189	68447189	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:68447189C>T	ENST00000265404.2	+	5	612	c.530C>T	c.(529-531)gCa>gTa	p.A177V	STAP1_ENST00000396225.1_Splice_Site_p.A177V	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	177	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CCTATGCCAGCGTAAGTGCAC	0.393																																						ENST00000265404.2																			0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.e5+1		signal transducing adaptor family member 1							203.0	184.0	191.0					4																	68447189		2203	4300	6503	SO:0001630	splice_region_variant	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68447189C>T	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.530+1C>T	4.37:g.68447189C>T						STAP1_ENST00000396225.1_Splice_Site_p.A177_splice	p.A177_splice	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN			5	612	+			177			SH2.		B2R980	Splice_Site	SNP	ENST00000265404.2	37	c.530_splice	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093078	0.36952	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.46063	0.88;0.88	5.58	-4.97	0.03029	SH2 motif (2);	0.951223	0.08837	N	0.886357	T	0.20251	0.0487	N	0.21448	0.665	0.23780	N	0.996866	B	0.11235	0.004	B	0.06405	0.002	T	0.24404	-1.0161	10	0.18276	T	0.48	-0.2905	3.8083	0.08786	0.1227:0.2014:0.1144:0.5616	.	177	Q9ULZ2	STAP1_HUMAN	V	177	ENSP00000265404:A177V;ENSP00000379527:A177V	ENSP00000265404:A177V	A	+	2	0	STAP1	68129784	0.034000	0.19679	0.933000	0.37362	0.897000	0.52465	-2.206000	0.01231	-0.678000	0.05224	-0.151000	0.13558	GCA		0.393	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108	Missense_Mutation	56	131	0	0	0	1	0	56	131				
BMP2K	55589	broad.mit.edu	37	4	79793824	79793824	+	Silent	SNP	G	G	A	rs185732744	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:79793824G>A	ENST00000335016.5	+	13	1831	c.1665G>A	c.(1663-1665)ccG>ccA	p.P555P	BMP2K_ENST00000502871.1_Silent_p.P555P	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	555	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AACATCAGCCGTCTCAACAAC	0.443													G|||	4	0.000798722	0.0	0.0	5008	,	,		19369	0.004		0.0	False		,,,				2504	0.0					ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1663-1665)ccG>ccA		BMP2 inducible kinase							150.0	139.0	143.0					4																	79793824		2203	4300	6503	SO:0001819	synonymous_variant	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79793824G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1665G>A	4.37:g.79793824G>A						BMP2K_ENST00000502871.1_Silent_p.P555P	p.P555P	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			13	1831	+			555			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	c.1665G>A	CCDS47083.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	0.037	-1.301566	0.01353	.	.	ENSG00000138756	ENST00000502613	.	.	.	5.79	3.13	0.36017	.	.	.	.	.	T	0.27027	0.0662	.	.	.	0.23056	N	0.998362	.	.	.	.	.	.	T	0.16276	-1.0408	4	.	.	.	-2.3589	7.7377	0.28823	0.1421:0.1335:0.7244:0.0	.	.	.	.	I	248	.	.	V	+	1	0	BMP2K	80012848	0.748000	0.28294	0.069000	0.20011	0.006000	0.05464	1.640000	0.37186	0.368000	0.24481	-0.229000	0.12294	GTC		0.443	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		36	63	0	0	0	1	0	36	63				
USP20	10868	broad.mit.edu	37	9	132631191	132631191	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:132631191G>A	ENST00000315480.4	+	12	1344	c.1186G>A	c.(1186-1188)Gtc>Atc	p.V396I	USP20_ENST00000372429.3_Missense_Mutation_p.V396I|USP20_ENST00000358355.1_Missense_Mutation_p.V396I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	396	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTGCAGCCCCGTCCACCACCA	0.672																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1186-1188)Gtc>Atc		ubiquitin specific peptidase 20							37.0	45.0	43.0					9																	132631191		2130	4234	6364	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132631191G>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1186G>A	9.37:g.132631191G>A	ENSP00000313811:p.Val396Ile					USP20_ENST00000372429.3_Missense_Mutation_p.V396I|USP20_ENST00000358355.1_Missense_Mutation_p.V396I	p.V396I			Q9Y2K6	UBP20_HUMAN			12	1344	+		Ovarian(14;0.00556)	396					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.1186G>A	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398260	0.42512	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.18810	2.19;2.19;2.19	4.94	3.08	0.35506	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.650980	0.01002	N	0.003682	T	0.18299	0.0439	L	0.33485	1.01	0.39185	D	0.962851	B	0.32128	0.357	B	0.25140	0.058	T	0.03933	-1.0991	10	0.31617	T	0.26	.	8.7592	0.34665	0.1764:0.0:0.8236:0.0	.	396	Q9Y2K6	UBP20_HUMAN	I	396	ENSP00000361506:V396I;ENSP00000313811:V396I;ENSP00000351122:V396I	ENSP00000313811:V396I	V	+	1	0	USP20	131671012	0.181000	0.23161	0.677000	0.29947	0.943000	0.58893	1.429000	0.34903	0.480000	0.27534	0.561000	0.74099	GTC		0.672	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			15	96	0	0	0	1	0	15	96				
EGF	1950	broad.mit.edu	37	4	110915913	110915913	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:110915913G>T	ENST00000265171.5	+	20	3327	c.2882G>T	c.(2881-2883)aGg>aTg	p.R961M	EGF_ENST00000509793.1_Missense_Mutation_p.R919M|RNU6-35P_ENST00000384530.1_RNA|EGF_ENST00000503392.1_Missense_Mutation_p.R920M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	961					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CCTCACCTCAGGGAAGATGAC	0.428																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2881-2883)aGg>aTg		epidermal growth factor	Sulindac(DB00605)						147.0	132.0	137.0					4																	110915913		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110915913G>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2882G>T	4.37:g.110915913G>T	ENSP00000265171:p.Arg961Met					EGF_ENST00000509793.1_Missense_Mutation_p.R919M|EGF_ENST00000503392.1_Missense_Mutation_p.R920M	p.R961M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	20	3327	+		Hepatocellular(203;0.0893)	961					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.2882G>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461932	0.26248	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.88586	-2.4;-2.32;-2.24	5.35	-1.9	0.07665	.	1.153860	0.05929	N	0.634892	T	0.77274	0.4106	N	0.14661	0.345	0.09310	N	1	B;B;B	0.24368	0.062;0.102;0.062	B;B;B	0.17722	0.009;0.019;0.009	T	0.61633	-0.7023	10	0.34782	T	0.22	.	6.5092	0.22212	0.5185:0.0:0.3594:0.1221	.	920;919;961	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	M	919;961;920	ENSP00000424316:R919M;ENSP00000265171:R961M;ENSP00000421384:R920M	ENSP00000265171:R961M	R	+	2	0	EGF	111135362	0.003000	0.15002	0.005000	0.12908	0.214000	0.24535	0.111000	0.15458	-0.528000	0.06366	-0.140000	0.14226	AGG		0.428	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			35	152	1	0	1.90571e-15	1	1.95683e-15	35	152				
PTK7	5754	broad.mit.edu	37	6	43044258	43044258	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:43044258C>A	ENST00000230419.4	+	1	253	c.32C>A	c.(31-33)cCc>cAc	p.P11H	RP11-387M24.5_ENST00000606123.1_RNA|PTK7_ENST00000471863.1_Missense_Mutation_p.P11H|PTK7_ENST00000476760.1_Missense_Mutation_p.P11H|PTK7_ENST00000345201.2_Missense_Mutation_p.P11H|PTK7_ENST00000481273.1_5'Flank|PTK7_ENST00000349241.2_Missense_Mutation_p.P11H|PTK7_ENST00000352931.2_Missense_Mutation_p.P11H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	11					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCGGCCAGACCCCGCCGGTTG	0.736																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(31-33)cCc>cAc		protein tyrosine kinase 7							7.0	10.0	9.0					6																	43044258		2096	4142	6238	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43044258C>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.32C>A	6.37:g.43044258C>A	ENSP00000230419:p.Pro11His					PTK7_ENST00000476760.1_Missense_Mutation_p.P11H|PTK7_ENST00000471863.1_Missense_Mutation_p.P11H|PTK7_ENST00000352931.2_Missense_Mutation_p.P11H|PTK7_ENST00000349241.2_Missense_Mutation_p.P11H|PTK7_ENST00000345201.2_Missense_Mutation_p.P11H	p.P11H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		1	253	+			11					A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.32C>A	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533297	0.27387	.	.	ENSG00000112655	ENST00000230419;ENST00000476760;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201	T;T;T;T;T;T	0.74106	-0.71;0.54;0.29;-0.81;-0.62;-0.73	4.3	1.41	0.22369	.	0.944627	0.08697	N	0.907010	T	0.28400	0.0702	N	0.08118	0	0.18873	N	0.999987	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.18935	-1.0321	10	0.51188	T	0.08	.	2.6383	0.04964	0.1916:0.5177:0.1857:0.1051	.	11;11;11;11;11	Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;PTK7_HUMAN;.	H	11	ENSP00000230419:P11H;ENSP00000417607:P11H;ENSP00000419037:P11H;ENSP00000325462:P11H;ENSP00000326029:P11H;ENSP00000325992:P11H	ENSP00000230418:P11H	P	+	2	0	PTK7	43152236	0.000000	0.05858	0.001000	0.08648	0.432000	0.31715	0.428000	0.21395	0.069000	0.16605	0.407000	0.27541	CCC		0.736	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			19	9	1	0	1.15919e-05	1	1.1728e-05	19	9				
CSMD2	114784	broad.mit.edu	37	1	34180250	34180250	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:34180250C>T	ENST00000373381.4	-	21	3519	c.3343G>A	c.(3343-3345)Gcc>Acc	p.A1115T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1075	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGATGCGGGCGGTGCCCTCC	0.632																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3343-3345)Gcc>Acc		CUB and Sushi multiple domains 2							98.0	110.0	106.0					1																	34180250		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180250C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3343G>A	1.37:g.34180250C>T	ENSP00000362479:p.Ala1115Thr						p.A1115T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			21	3519	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1075			CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.3343G>A		.	.	.	.	.	.	.	.	.	.	C	13.92	2.380018	0.42207	.	.	ENSG00000121904	ENST00000373381	T	0.65916	-0.18	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	L	0.41710	1.295	0.80722	D	1	B;B	0.33135	0.399;0.103	B;B	0.36030	0.216;0.09	T	0.46624	-0.9178	10	0.12430	T	0.62	.	14.0418	0.64681	0.1507:0.8493:0.0:0.0	.	1075;1115	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	1115	ENSP00000362479:A1115T	ENSP00000241312:A1075T	A	-	1	0	CSMD2	33952837	0.207000	0.23482	0.998000	0.56505	0.998000	0.95712	0.856000	0.27818	2.753000	0.94483	0.655000	0.94253	GCC		0.632	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		136	245	0	0	0	1	0	136	245				
KMT2D	8085	broad.mit.edu	37	12	49445921	49445921	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49445921C>T	ENST00000301067.7	-	10	1544	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	515	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCGACTCCTCCAGTGGAGAAA	0.617																																						ENST00000301067.7																			0											c.(1543-1545)ctG>ctA		lysine (K)-specific methyltransferase 2D							45.0	51.0	49.0					12																	49445921		2043	4188	6231	SO:0001819	synonymous_variant	8085							g.chr12:49445921C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1545G>A	12.37:g.49445921C>T							p.L515L	NM_003482.3	NP_003473.3					10	1544	-								O14687	Silent	SNP	ENST00000301067.7	37	c.1545G>A	CCDS44873.1																																																																																				0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			38	67	0	0	0	1	0	38	67				
NLRP2	55655	broad.mit.edu	37	19	55493635	55493635	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55493635A>T	ENST00000543010.1	+	6	712	c.569A>T	c.(568-570)aAg>aTg	p.K190M	NLRP2_ENST00000263437.6_Missense_Mutation_p.K187M|NLRP2_ENST00000538819.1_Missense_Mutation_p.K166M|NLRP2_ENST00000427260.2_Missense_Mutation_p.K167M|NLRP2_ENST00000391721.4_Missense_Mutation_p.K166M|NLRP2_ENST00000339757.7_Missense_Mutation_p.K168M|NLRP2_ENST00000448584.2_Missense_Mutation_p.K190M|NLRP2_ENST00000537859.1_Missense_Mutation_p.K168M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	190					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAGATACAAGATGCTGATC	0.542																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(568-570)aAg>aTg		NLR family, pyrin domain containing 2							136.0	143.0	140.0					19																	55493635		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493635A>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.569A>T	19.37:g.55493635A>T	ENSP00000445135:p.Lys190Met					NLRP2_ENST00000538819.1_Missense_Mutation_p.K166M|NLRP2_ENST00000391721.4_Missense_Mutation_p.K166M|NLRP2_ENST00000427260.2_Missense_Mutation_p.K167M|NLRP2_ENST00000448584.2_Missense_Mutation_p.K190M|NLRP2_ENST00000339757.7_Missense_Mutation_p.K168M|NLRP2_ENST00000263437.6_Missense_Mutation_p.K187M|NLRP2_ENST00000537859.1_Missense_Mutation_p.K168M	p.K190M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	712	+			190					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.569A>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	A	4.661	0.122958	0.08931	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.75589	-0.93;-0.84;-0.82;-0.93;-0.82;-0.95;-0.84;0.43	2.2	-1.45	0.08828	.	.	.	.	.	T	0.45577	0.1349	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.21606	0.034;0.058;0.034;0.058;0.034	B;B;B;B;B	0.20384	0.021;0.018;0.013;0.029;0.02	T	0.23476	-1.0187	9	0.49607	T	0.09	.	3.1895	0.06612	0.5494:0.0:0.2654:0.1852	.	167;168;187;166;190	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	190;166;168;190;168;167;166;187	ENSP00000445135:K190M;ENSP00000375601:K166M;ENSP00000344074:K168M;ENSP00000409370:K190M;ENSP00000440601:K168M;ENSP00000402474:K167M;ENSP00000441133:K166M;ENSP00000263437:K187M	ENSP00000263437:K187M	K	+	2	0	NLRP2	60185447	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.422000	0.07043	-0.948000	0.03668	-2.655000	0.00148	AAG		0.542	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		56	168	0	0	0	1	0	56	168				
SF1	7536	broad.mit.edu	37	11	64532975	64532975	+	3'UTR	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64532975G>A	ENST00000377390.3	-	0	2572				SF1_ENST00000377394.3_Silent_p.G534G|SF1_ENST00000227503.9_Missense_Mutation_p.A533V|SF1_ENST00000377387.1_Missense_Mutation_p.A658V|SF1_ENST00000334944.5_Silent_p.G601G|SF1_ENST00000422298.2_Missense_Mutation_p.A418V|SF1_ENST00000489544.1_5'Flank	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1						Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGCCATCGCCGCCGCGGGGAG	0.637																																						ENST00000377387.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(1972-1974)gCg>gTg		splicing factor 1							62.0	72.0	69.0					11																	64532975		2201	4297	6498	SO:0001624	3_prime_UTR_variant	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64532975G>A	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.*315C>T	11.37:g.64532975G>A						SF1_ENST00000377390.3_3'UTR|SF1_ENST00000227503.9_Missense_Mutation_p.A533V|SF1_ENST00000334944.5_Silent_p.G601G|SF1_ENST00000377394.3_Silent_p.G534G|SF1_ENST00000422298.2_Missense_Mutation_p.A418V	p.A658V	NM_001178030.1	NP_001171501.1	Q15637	SF01_HUMAN			13	2049	-			533					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.1973C>T	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662358	0.47572	.	.	ENSG00000168066	ENST00000377387;ENST00000227503;ENST00000422298;ENST00000443908	T;T;T;T	0.51071	0.72;0.88;0.87;0.85	5.54	5.54	0.83059	.	0.541967	0.18100	N	0.151714	T	0.67534	0.2903	.	.	.	0.23640	N	0.997227	D;D;D	0.76494	0.959;0.976;0.999	P;P;D	0.71184	0.499;0.695;0.972	T	0.61898	-0.6968	9	0.87932	D	0	.	14.9859	0.71348	0.0:0.0:1.0:0.0	.	418;533;658	B4DX42;Q15637-4;Q15637-5	.;.;.	V	658;533;418;185	ENSP00000366604:A658V;ENSP00000227503:A533V;ENSP00000413084:A418V;ENSP00000391198:A185V	ENSP00000227503:A533V	A	-	2	0	SF1	64289551	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.235000	0.58666	2.607000	0.88179	0.462000	0.41574	GCG		0.637	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		123	117	0	0	0	1	0	123	117				
IBA57	200205	broad.mit.edu	37	1	228362946	228362946	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:228362946G>A	ENST00000366711.3	+	3	805	c.803G>A	c.(802-804)cGc>cAc	p.R268H	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Missense_Mutation_p.R75H	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	268					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CTGACGGCCCGCACCCACCAC	0.647																																						ENST00000366711.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(802-804)cGc>cAc		IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)							65.0	61.0	62.0					1																	228362946		2203	4299	6502	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228362946G>A	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.803G>A	1.37:g.228362946G>A	ENSP00000355672:p.Arg268His					IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Missense_Mutation_p.R75H	p.R268H	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN			3	805	+			268						Missense_Mutation	SNP	ENST00000366711.3	37	c.803G>A	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	G	35	5.498802	0.96355	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.69806	-0.43;-0.43	5.08	5.08	0.68730	YgfZ/GcvT conserved site (1);Glycine cleavage T-protein, C-terminal barrel (1);	0.000000	0.85682	D	0.000000	D	0.89753	0.6806	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93810	0.7109	10	0.87932	D	0	-36.2182	18.654	0.91441	0.0:0.0:1.0:0.0	.	268	Q5T440	CAF17_HUMAN	H	268;75	ENSP00000355672:R268H;ENSP00000437347:R75H	ENSP00000355672:R268H	R	+	2	0	IBA57	226429569	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	9.040000	0.93783	2.640000	0.89533	0.655000	0.94253	CGC		0.647	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		24	168	0	0	0	1	0	24	168				
MLXIPL	51085	broad.mit.edu	37	7	73013863	73013863	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:73013863C>T	ENST00000313375.3	-	8	1111	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	MLXIPL_ENST00000429400.2_Missense_Mutation_p.R355H|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R355H|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R262H|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R262H|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R355H	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	355					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACCTGCAGACGGCTGTGTCC	0.632																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1063-1065)cGt>cAt		MLX interacting protein-like							43.0	49.0	47.0					7																	73013863		2203	4300	6503	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73013863C>T	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1064G>A	7.37:g.73013863C>T	ENSP00000320886:p.Arg355His					MLXIPL_ENST00000434326.1_Missense_Mutation_p.R262H|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R262H|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R355H|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R355H|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R355H	p.R355H	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			8	1111	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	355					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1064G>A	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	c	12.30	1.896518	0.33442	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T	0.24350	2.48;2.48;2.48;2.48;1.86;1.87	4.52	3.62	0.41486	.	0.933067	0.08946	U	0.870769	T	0.42653	0.1212	L	0.56769	1.78	0.19300	N	0.999971	D;D;D;D;D;D	0.89917	1.0;0.998;0.998;0.999;0.999;0.999	P;P;P;P;P;P	0.59487	0.789;0.764;0.725;0.858;0.858;0.858	T	0.18085	-1.0348	10	0.44086	T	0.13	-5.7053	10.5063	0.44836	0.0:0.8025:0.1975:0.0	.	262;262;355;355;355;355	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	H	355;355;355;355;262;262;188	ENSP00000412330:R355H;ENSP00000406296:R355H;ENSP00000320886:R355H;ENSP00000346629:R355H;ENSP00000378616:R262H;ENSP00000392636:R262H	ENSP00000320886:R355H	R	-	2	0	MLXIPL	72651799	0.993000	0.37304	0.928000	0.36995	0.725000	0.41563	0.798000	0.27014	0.867000	0.35654	0.550000	0.68814	CGT		0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		47	90	0	0	0	1	0	47	90				
SSMEM1	136263	broad.mit.edu	37	7	129856218	129856218	+	Nonsense_Mutation	SNP	C	C	T	rs146470357		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:129856218C>T	ENST00000297819.3	+	3	694	c.643C>T	c.(643-645)Cga>Tga	p.R215*		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	215						integral component of membrane (GO:0016021)		p.R215R(1)									GCACCATTCCCGACAGAAGCC	0.438																																						ENST00000297819.3																			1	Substitution - coding silent(1)	p.R215R(1)	lung(1)								c.(643-645)Cga>Tga		serine-rich single-pass membrane protein 1		C	stop/ARG	0,4406		0,0,2203	136.0	143.0	140.0		643	3.4	0.9	7	dbSNP_134	140	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained	C7orf45	NM_145268.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		215/245	129856218	2,13004	2203	4300	6503	SO:0001587	stop_gained	136263							g.chr7:129856218C>T	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.643C>T	7.37:g.129856218C>T	ENSP00000297819:p.Arg215*						p.R215*	NM_145268.3	NP_660311.1					3	694	+									Nonsense_Mutation	SNP	ENST00000297819.3	37	c.643C>T	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690510	0.29962	0.0	2.33E-4	ENSG00000165120	ENST00000297819	.	.	.	5.26	3.43	0.39272	.	1.068870	0.07238	N	0.863758	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-0.0169	4.6353	0.12521	0.1749:0.645:0.0:0.18	.	.	.	.	X	215	.	ENSP00000297819:R215X	R	+	1	2	C7orf45	129643454	0.886000	0.30341	0.868000	0.34077	0.005000	0.04900	1.414000	0.34736	1.354000	0.45846	0.491000	0.48974	CGA		0.438	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		119	192	0	0	0	1	0	119	192				
NPC1	4864	broad.mit.edu	37	18	21114452	21114452	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:21114452G>A	ENST00000269228.5	-	23	4103	c.3549C>T	c.(3547-3549)cgC>cgT	p.R1183R	NPC1_ENST00000412552.2_Silent_p.R865R	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1183					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCGCTCCACGCGGCTGCCTT	0.587																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(3547-3549)cgC>cgT		Niemann-Pick disease, type C1							68.0	58.0	61.0					18																	21114452		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21114452G>A	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3549C>T	18.37:g.21114452G>A						NPC1_ENST00000412552.2_Silent_p.R865R	p.R1183R	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			23	4103	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		1183					B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.3549C>T	CCDS11878.1																																																																																				0.587	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		26	19	0	0	0	1	0	26	19				
PDCD11	22984	broad.mit.edu	37	10	105184818	105184818	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105184818G>A	ENST00000369797.3	+	20	2935	c.2841G>A	c.(2839-2841)acG>acA	p.T947T	PDCD11_ENST00000490787.1_3'UTR	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	947					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGTAGAGACGGGCCACCTGG	0.547																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2839-2841)acG>acA		programmed cell death 11							111.0	99.0	103.0					10																	105184818		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105184818G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2841G>A	10.37:g.105184818G>A						PDCD11_ENST00000490787.1_3'UTR	p.T947T	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	20	2935	+		Colorectal(252;0.0747)|Breast(234;0.128)	947					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.2841G>A	CCDS31276.1																																																																																				0.547	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			25	102	0	0	0	1	0	25	102				
ZNF324B	388569	broad.mit.edu	37	19	58967425	58967425	+	Missense_Mutation	SNP	G	G	A	rs371577190		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58967425G>A	ENST00000336614.4	+	4	1221	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T	ZNF324B_ENST00000391696.1_Missense_Mutation_p.A362T|ZNF324B_ENST00000545523.1_Missense_Mutation_p.A372T	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTATGCTTGCGCACAGTGTGG	0.657																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1084-1086)Gca>Aca		zinc finger protein 324B							17.0	17.0	17.0					19																	58967425		2194	4265	6459	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967425G>A	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1114G>A	19.37:g.58967425G>A	ENSP00000337473:p.Ala372Thr					ZNF324B_ENST00000336614.4_Missense_Mutation_p.A372T|ZNF324B_ENST00000545523.1_Missense_Mutation_p.A372T	p.A362T			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	2016	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	372					B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.1084G>A	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247877	0.39697	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.07567	3.18;3.18;3.18	2.66	0.43	0.16515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.361266	0.20400	N	0.093078	T	0.02119	0.0066	N	0.02142	-0.665	0.09310	N	1	B;B	0.30439	0.279;0.017	B;B	0.26094	0.066;0.009	T	0.40942	-0.9536	10	0.23891	T	0.37	.	2.2846	0.04123	0.306:0.0:0.4534:0.2405	.	372;362	Q6AW86;C9JTQ8	Z324B_HUMAN;.	T	372;372;362	ENSP00000337473:A372T;ENSP00000438930:A372T;ENSP00000375578:A362T	ENSP00000337473:A372T	A	+	1	0	ZNF324B	63659237	0.000000	0.05858	0.001000	0.08648	0.938000	0.57974	-0.505000	0.06367	0.165000	0.19558	0.591000	0.81541	GCA		0.657	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		4	54	0	0	0	1	0	4	54				
CHD5	26038	broad.mit.edu	37	1	6202326	6202326	+	Silent	SNP	G	G	A	rs566097871		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6202326G>A	ENST00000262450.3	-	15	2397	c.2298C>T	c.(2296-2298)cgC>cgT	p.R766R	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTCAAACTCGCGTTCCCAGT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		17397	0.001		0.0	False		,,,				2504	0.0					ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2296-2298)cgC>cgT		chromodomain helicase DNA binding protein 5							88.0	87.0	87.0					1																	6202326		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202326G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2298C>T	1.37:g.6202326G>A						CHD5_ENST00000378021.1_5'UTR	p.R766R	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	15	2397	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	766			Helicase ATP-binding.		A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.2298C>T	CCDS57.1																																																																																				0.607	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		69	106	0	0	0	1	0	69	106				
DNAH9	1770	broad.mit.edu	37	17	11711063	11711063	+	Missense_Mutation	SNP	G	G	A	rs371741808		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11711063G>A	ENST00000262442.4	+	44	8503	c.8435G>A	c.(8434-8436)cGc>cAc	p.R2812H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2812H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2812	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATATCAATCGCATCTTGGAG	0.532																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8434-8436)cGc>cAc		dynein, axonemal, heavy chain 9		G	HIS/ARG	0,4406		0,0,2203	99.0	89.0	92.0		8435	5.5	1.0	17		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH9	NM_001372.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2812/4487	11711063	1,13005	2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11711063G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8435G>A	17.37:g.11711063G>A	ENSP00000262442:p.Arg2812His					DNAH9_ENST00000454412.2_Missense_Mutation_p.R2812H	p.R2812H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	44	8503	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2812			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8435G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130148	0.94473	0.0	1.16E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.57273	0.41;0.41	5.52	5.52	0.82312	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	D	0.87055	0.6082	H	0.99939	4.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93322	0.6693	10	0.87932	D	0	.	19.4865	0.95030	0.0:0.0:1.0:0.0	.	2812	Q9NYC9	DYH9_HUMAN	H	2812;2812;1394	ENSP00000262442:R2812H;ENSP00000414874:R2812H	ENSP00000262442:R2812H	R	+	2	0	DNAH9	11651788	1.000000	0.71417	0.985000	0.45067	0.853000	0.48598	9.813000	0.99286	2.605000	0.88082	0.644000	0.83932	CGC		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		8	111	0	0	0	1	0	8	111				
EPB41L3	23136	broad.mit.edu	37	18	5423406	5423406	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:5423406C>T	ENST00000341928.2	-	11	1650	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	EPB41L3_ENST00000540638.2_Missense_Mutation_p.R437H|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R437H|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R437H|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R437H	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	437	Hydrophilic.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CATGGTATAACGTTTGCTGGA	0.478																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1309-1311)cGt>cAt		erythrocyte membrane protein band 4.1-like 3							188.0	143.0	158.0					18																	5423406		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5423406C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1310G>A	18.37:g.5423406C>T	ENSP00000343158:p.Arg437His					EPB41L3_ENST00000342933.3_Missense_Mutation_p.R437H|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R437H|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R437H|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R437H	p.R437H	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			11	1650	-			437			Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1310G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	35	5.559070	0.96514	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D;D	0.89270	-2.49;-2.34;-2.49;-2.49;-2.49	6.08	6.08	0.98989	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.96228	0.8770	M	0.92268	3.29	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.999	D	0.96185	0.9133	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	437;328;437;437	F5GX05;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	H	437;328;437;328;437;437	ENSP00000343158:R437H;ENSP00000442091:R328H;ENSP00000441174:R437H;ENSP00000341138:R437H;ENSP00000382981:R437H	ENSP00000343158:R437H	R	-	2	0	EPB41L3	5413406	1.000000	0.71417	0.980000	0.43619	0.880000	0.50808	7.788000	0.85771	2.894000	0.99253	0.591000	0.81541	CGT		0.478	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		32	26	0	0	0	1	0	32	26				
NR2C2	7182	broad.mit.edu	37	3	15065637	15065637	+	Silent	SNP	T	T	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:15065637T>A	ENST00000425241.1	+	7	1082	c.720T>A	c.(718-720)ctT>ctA	p.L240L	NR2C2_ENST00000323373.6_Silent_p.L259L|NR2C2_ENST00000406272.2_Silent_p.L240L|NR2C2_ENST00000393102.3_Silent_p.L240L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	240					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGGTCTTCTTGATCCAGGGA	0.438																																						ENST00000425241.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(718-720)ctT>ctA		nuclear receptor subfamily 2, group C, member 2							162.0	137.0	145.0					3																	15065637		2203	4300	6503	SO:0001819	synonymous_variant	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15065637T>A	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.720T>A	3.37:g.15065637T>A						NR2C2_ENST00000323373.6_Silent_p.L259L|NR2C2_ENST00000393102.3_Silent_p.L240L|NR2C2_ENST00000406272.2_Silent_p.L240L	p.L240L			P49116	NR2C2_HUMAN			7	1082	+			240					A8K3H5|B6ZGT8|P55092	Silent	SNP	ENST00000425241.1	37	c.720T>A																																																																																					0.438	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		31	91	0	0	0	1	0	31	91				
NDUFA13	51079	broad.mit.edu	37	19	19625703	19625703	+	5'Flank	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19625703C>T	ENST00000507754.4	+	0	0				NDUFA13_ENST00000512771.3_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|TSSK6_ENST00000585580.3_Silent_p.A178A|TSSK6_ENST00000360913.3_Silent_p.A178A|NDUFA13_ENST00000252576.5_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|YJEFN3_ENST00000608404.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CCTCGGGTGACGCGTAGGCGG	0.662																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(532-534)gcG>gcA		testis-specific serine kinase 6							44.0	35.0	38.0					19																	19625703		2203	4300	6503	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625703C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625703C>T	Exception_encountered					TSSK6_ENST00000585580.3_Silent_p.A178A	p.A178A			Q9BXA6	TSSK6_HUMAN			1	1135	-			178			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	c.534G>A	CCDS12404.2																																																																																				0.662	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		8	48	0	0	0	1	0	8	48				
LRBA	987	broad.mit.edu	37	4	151850067	151850067	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151850067G>A	ENST00000357115.3	-	3	610	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	LRBA_ENST00000510413.1_Missense_Mutation_p.R123W|LRBA_ENST00000507224.1_Missense_Mutation_p.R123W|LRBA_ENST00000535741.1_Missense_Mutation_p.R123W	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	123						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAAGATTCCGTATGCTTTTC	0.388																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(367-369)Cgg>Tgg		LPS-responsive vesicle trafficking, beach and anchor containing							156.0	148.0	151.0					4																	151850067		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151850067G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.367C>T	4.37:g.151850067G>A	ENSP00000349629:p.Arg123Trp					LRBA_ENST00000510413.1_Missense_Mutation_p.R123W|LRBA_ENST00000357115.3_Missense_Mutation_p.R123W|LRBA_ENST00000507224.1_Missense_Mutation_p.R123W	p.R123W			P50851	LRBA_HUMAN			3	840	-	all_hematologic(180;0.151)		123					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.367C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583239	0.86748	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.59772	0.66;0.81;0.66;0.24	5.81	4.89	0.63831	.	0.000000	0.64402	D	0.000004	T	0.77445	0.4131	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.998;0.999	T	0.80226	-0.1470	10	0.72032	D	0.01	.	16.8678	0.86033	0.0:0.0:0.8461:0.1539	.	123;123;123	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	W	123	ENSP00000446299:R123W;ENSP00000421552:R123W;ENSP00000349629:R123W;ENSP00000422180:R123W	ENSP00000349629:R123W	R	-	1	2	LRBA	152069517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.333000	0.65917	2.741000	0.93983	0.655000	0.94253	CGG		0.388	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			33	144	0	0	0	1	0	33	144				
SNCB	6620	broad.mit.edu	37	5	176056600	176056600	+	Missense_Mutation	SNP	G	G	A	rs201389179		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176056600G>A	ENST00000310112.3	-	3	306	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SNCB_ENST00000393693.2_Missense_Mutation_p.A19V|SNCB_ENST00000506696.1_Missense_Mutation_p.A19V|SNCB_ENST00000510387.1_Missense_Mutation_p.A19V|EIF4E1B_ENST00000318682.6_5'Flank|MIR4281_ENST00000580852.1_RNA	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	19					dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTTTCTCCGCGGCTGCCAC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		10846	0.0		0.001	False		,,,				2504	0.0					ENST00000310112.3																			0				breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(55-57)gCg>gTg		synuclein, beta							43.0	34.0	37.0					5																	176056600		2203	4300	6503	SO:0001583	missense	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176056600G>A	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.56C>T	5.37:g.176056600G>A	ENSP00000308057:p.Ala19Val					SNCB_ENST00000510387.1_Missense_Mutation_p.A19V|SNCB_ENST00000506696.1_Missense_Mutation_p.A19V|SNCB_ENST00000393693.2_Missense_Mutation_p.A19V	p.A19V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	306	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	19					Q6IAX7	Missense_Mutation	SNP	ENST00000310112.3	37	c.56C>T	CCDS4406.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.53	3.844805	0.71603	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	L	0.48642	1.525	0.58432	D	0.999996	D;D	0.76494	0.975;0.999	P;P	0.62560	0.72;0.904	D	0.85144	0.0982	10	0.38643	T	0.18	-16.6009	14.0226	0.64565	0.0:0.0:1.0:0.0	.	19;19	G4Y815;Q16143	.;SYUB_HUMAN	V	19	ENSP00000308057:A19V;ENSP00000377296:A19V;ENSP00000424073:A19V;ENSP00000422223:A19V	ENSP00000308057:A19V	A	-	2	0	SNCB	175989206	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.435000	0.80391	1.879000	0.54435	0.462000	0.41574	GCG		0.677	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	NM_001001502		11	52	0	0	0	1	0	11	52				
CEP170B	283638	broad.mit.edu	37	14	105354097	105354097	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:105354097G>A	ENST00000414716.3	+	12	3749	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	CEP170B_ENST00000418279.1_Missense_Mutation_p.R1104Q|CEP170B_ENST00000453495.1_Missense_Mutation_p.R1175Q|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1104Q	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1174						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GCCATGCCCCGGAAGCGGGCC	0.697																																						ENST00000453495.1																			0											c.(3523-3525)cGg>cAg		centrosomal protein 170B							7.0	10.0	9.0					14																	105354097		1924	4089	6013	SO:0001583	missense	283638							g.chr14:105354097G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3521G>A	14.37:g.105354097G>A	ENSP00000404151:p.Arg1174Gln					CEP170B_ENST00000414716.3_Missense_Mutation_p.R1174Q|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1104Q|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1104Q	p.R1175Q							12	3752	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.3524G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	g	29.8	5.037054	0.93630	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.74106	-0.71;-0.4;-0.81;-0.33	4.03	4.03	0.46877	.	0.000000	0.64402	U	0.000002	D	0.86389	0.5921	M	0.81341	2.54	0.48830	D	0.999717	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.944;0.997	D	0.89104	0.3491	10	0.87932	D	0	-15.4133	16.1565	0.81673	0.0:0.0:1.0:0.0	.	1174;1174;1104	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	Q	1104;1174;1175;1104	ENSP00000451249:R1104Q;ENSP00000404151:R1174Q;ENSP00000407238:R1175Q;ENSP00000415006:R1104Q	ENSP00000404151:R1174Q	R	+	2	0	KIAA0284	104425142	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.520000	0.98027	1.801000	0.52704	0.472000	0.43445	CGG		0.697	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		4	8	0	0	0	1	0	4	8				
ITGA3	3675	broad.mit.edu	37	17	48157736	48157736	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48157736C>T	ENST00000320031.8	+	22	3147	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	ITGA3_ENST00000007722.7_Silent_p.I939I	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	939					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GCACCTTCATCGAGGTCAGTG	0.602																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2815-2817)atC>atT		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							105.0	73.0	84.0					17																	48157736		2203	4300	6503	SO:0001819	synonymous_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48157736C>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2817C>T	17.37:g.48157736C>T						ITGA3_ENST00000007722.7_Silent_p.I939I	p.I939I	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			22	3147	+			939					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	37	c.2817C>T	CCDS11558.1																																																																																				0.602	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		11	30	0	0	0	1	0	11	30				
USP15	9958	broad.mit.edu	37	12	62715345	62715345	+	Silent	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:62715345T>C	ENST00000280377.5	+	5	634	c.576T>C	c.(574-576)aaT>aaC	p.N192N	USP15_ENST00000353364.3_Silent_p.N192N|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Silent_p.N192N|USP15_ENST00000393654.3_Silent_p.N192N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	192					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AACCACTGAATAAACCAGACA	0.333																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(574-576)aaT>aaC		ubiquitin specific peptidase 15							79.0	80.0	80.0					12																	62715345		2203	4299	6502	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62715345T>C	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.576T>C	12.37:g.62715345T>C						USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Silent_p.N192N|USP15_ENST00000393654.3_Silent_p.N192N|USP15_ENST00000312635.6_Silent_p.N192N	p.N192N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	5	634	+			192					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.576T>C	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	T	9.720	1.159419	0.21454	.	.	ENSG00000135655	ENST00000549237	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	T	0.71617	0.3361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71163	-0.4673	4	.	.	.	-21.3838	15.4568	0.75321	0.0:0.0:0.0:1.0	.	.	.	.	T	188	.	.	I	+	2	0	USP15	61001612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.533000	0.60615	2.056000	0.61249	0.528000	0.53228	ATA		0.333	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		24	33	0	0	0	1	0	24	33				
CLIC3	9022	broad.mit.edu	37	9	139889178	139889178	+	Silent	SNP	G	G	A	rs367720170		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139889178G>A	ENST00000494426.1	-	6	925	c.666C>T	c.(664-666)agC>agT	p.S222S	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	222	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|signal transduction (GO:0007165)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGATCTCGGCGCTGTGCGGAC	0.677																																						ENST00000494426.1																			0				lung(1)|skin(1)	2						c.(664-666)agC>agT		chloride intracellular channel 3		G		0,4376		0,0,2188	25.0	28.0	27.0		666	1.3	0.0	9		27	1,8585		0,1,4292	no	coding-synonymous	CLIC3	NM_004669.2		0,1,6480	AA,AG,GG		0.0116,0.0,0.0077		222/237	139889178	1,12961	2188	4293	6481	SO:0001819	synonymous_variant	9022				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity	g.chr9:139889178G>A	AF102166	CCDS7021.1	9q34.3	2012-09-26			ENSG00000169583	ENSG00000169583		"""Ion channels / Chloride channels : Intracellular"""	2064	protein-coding gene	gene with protein product		606533				9880541	Standard	NM_004669		Approved		uc004ckj.1	O95833	OTTHUMG00000020954	ENST00000494426.1:c.666C>T	9.37:g.139889178G>A						CLIC3_ENST00000480181.1_5'UTR	p.S222S	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	6	925	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	222			GST C-terminal.		Q5SPZ7	Silent	SNP	ENST00000494426.1	37	c.666C>T	CCDS7021.1																																																																																				0.677	CLIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055173.2	NM_004669		21	24	0	0	0	1	0	21	24				
R3HDM1	23518	broad.mit.edu	37	2	136481617	136481617	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:136481617C>T	ENST00000264160.4	+	26	3425	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	R3HDM1_ENST00000329971.3_Missense_Mutation_p.R890W|R3HDM1_ENST00000410054.1_Missense_Mutation_p.R964W|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R891W|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R1020W	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1019							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCGGTGGCTCCGGGACCCCCA	0.542																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(3055-3057)Cgg>Tgg		R3H domain containing 1							66.0	74.0	71.0					2																	136481617		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136481617C>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.3055C>T	2.37:g.136481617C>T	ENSP00000264160:p.Arg1019Trp					R3HDM1_ENST00000410054.1_Missense_Mutation_p.R964W|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R1020W|R3HDM1_ENST00000329971.3_Missense_Mutation_p.R890W|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R891W	p.R1019W	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	26	3425	+			1019					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.3055C>T	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.320227|3.320227	0.60634|0.60634	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000429703|ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	.|T;T;T;T;T	.|0.33654	.|1.41;1.41;1.41;1.4;1.41	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.153805	.|0.44097	.|D	.|0.000485	T|T	0.55689|0.55689	0.1936|0.1936	L|L	0.60455|0.60455	1.87|1.87	0.39847|0.39847	D|D	0.973199|0.973199	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.76575	.|0.985;0.928;0.976;0.988	T|T	0.58370|0.58370	-0.7648|-0.7648	5|10	.|0.87932	.|D	.|0	-13.4887|-13.4887	13.8153|13.8153	0.63287|0.63287	0.2535:0.7465:0.0:0.0|0.2535:0.7465:0.0:0.0	.|.	.|891;1020;964;1019	.|G5E9G8;E9PBB4;E9PG42;Q15032	.|.;.;.;R3HD1_HUMAN	L|W	742|891;1019;890;964;1020	.|ENSP00000386457:R891W;ENSP00000264160:R1019W;ENSP00000331396:R890W;ENSP00000386877:R964W;ENSP00000387010:R1020W	.|ENSP00000264160:R1019W	P|R	+|+	2|1	0|2	R3HDM1|R3HDM1	136198087|136198087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	2.553000|2.553000	0.45837|0.45837	2.767000|2.767000	0.95098|0.95098	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.542	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		93	80	0	0	0	1	0	93	80				
ZBTB38	253461	broad.mit.edu	37	3	141163946	141163946	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141163946G>A	ENST00000514251.1	+	4	2995	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	ZBTB38_ENST00000441582.2_Missense_Mutation_p.A906T|ZBTB38_ENST00000321464.5_Missense_Mutation_p.A907T					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTTCGATGACGCAAGTGACCA	0.502																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(2716-2718)Gca>Aca		zinc finger and BTB domain containing 38							57.0	58.0	58.0					3																	141163946		1996	4166	6162	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163946G>A	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2716G>A	3.37:g.141163946G>A	ENSP00000426387:p.Ala906Thr					ZBTB38_ENST00000441582.2_Missense_Mutation_p.A906T|ZBTB38_ENST00000321464.5_Missense_Mutation_p.A907T	p.A906T			Q8NAP3	ZBT38_HUMAN			4	2995	+			906						Missense_Mutation	SNP	ENST00000514251.1	37	c.2716G>A	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394767	0.25205	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08720	3.06;3.06;3.06	5.28	4.4	0.53042	.	0.616774	0.14640	N	0.307266	T	0.07773	0.0195	L	0.40543	1.245	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.06405	0.002;0.002	T	0.31752	-0.9932	9	.	.	.	-4.0819	9.2626	0.37621	0.0766:0.1457:0.7777:0.0	.	907;906	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	T	906;906;907	ENSP00000426387:A906T;ENSP00000406955:A906T;ENSP00000372635:A907T	.	A	+	1	0	ZBTB38	142646636	0.034000	0.19679	0.004000	0.12327	0.794000	0.44872	1.838000	0.39211	1.227000	0.43598	0.650000	0.86243	GCA		0.502	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			44	17	0	0	0	1	0	44	17				
ABCF1	23	broad.mit.edu	37	6	30552327	30552327	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:30552327C>T	ENST00000326195.8	+	14	1487	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	ABCF1_ENST00000376545.3_Missense_Mutation_p.R421C|ABCF1_ENST00000396515.4_Intron|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	459	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTGGCGCATGCGTGTCTCCCT	0.612																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(1375-1377)Cgt>Tgt		ATP-binding cassette, sub-family F (GCN20), member 1							82.0	74.0	77.0					6																	30552327		1507	2709	4216	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30552327C>T	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1375C>T	6.37:g.30552327C>T	ENSP00000313603:p.Arg459Cys					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.R421C	p.R459C	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			14	1487	+			459			ABC transporter 1.		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.1375C>T	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653190	0.67472	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943	D;D	0.95588	-3.75;-3.75	5.27	4.4	0.53042	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.099114	0.64402	D	0.000003	D	0.97945	0.9324	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97910	1.0308	10	0.87932	D	0	-7.9918	6.5586	0.22474	0.2732:0.6416:0.0:0.0851	.	421;459;459	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	C	459;421;438	ENSP00000313603:R459C;ENSP00000365728:R421C	ENSP00000313603:R459C	R	+	1	0	ABCF1	30660306	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.843000	0.55865	1.459000	0.47892	0.462000	0.41574	CGT		0.612	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			38	34	0	0	0	1	0	38	34				
PITPNM2	57605	broad.mit.edu	37	12	123473364	123473364	+	Silent	SNP	G	G	A	rs565639153		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123473364G>A	ENST00000542749.1	-	17	2850	c.2787C>T	c.(2785-2787)gaC>gaT	p.D929D	PITPNM2_ENST00000392428.1_Silent_p.D650D|PITPNM2_ENST00000320201.4_Silent_p.D929D|PITPNM2_ENST00000280562.5_Silent_p.D923D			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	929	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCGTGAGGGCGTCAGGGCAGT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17253	0.0		0.0	False		,,,				2504	0.0					ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2767-2769)gaC>gaT		phosphatidylinositol transfer protein, membrane-associated 2							96.0	67.0	77.0					12																	123473364		2198	4298	6496	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123473364G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2787C>T	12.37:g.123473364G>A						PITPNM2_ENST00000392428.1_Silent_p.D650D|PITPNM2_ENST00000542749.1_Silent_p.D929D|PITPNM2_ENST00000320201.4_Silent_p.D929D	p.D923D			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	18	2974	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		860			DDHD.		Q9P271	Silent	SNP	ENST00000542749.1	37	c.2769C>T	CCDS9242.1																																																																																				0.642	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		6	15	0	0	0	1	0	6	15				
ZNF691	51058	broad.mit.edu	37	1	43317024	43317024	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43317024G>A	ENST00000372506.1	+	4	735	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	ZNF691_ENST00000397044.3_Missense_Mutation_p.R163Q|ZNF691_ENST00000372507.1_Missense_Mutation_p.R132Q|ZNF691_ENST00000372508.3_Missense_Mutation_p.R132Q|ZNF691_ENST00000372502.1_Missense_Mutation_p.R154Q|ZNF691_ENST00000372504.1_Missense_Mutation_p.R154Q	NM_001242739.1	NP_001229668.1	Q5VV52	ZN691_HUMAN	zinc finger protein 691	163						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCACGAGCGGATCCACCTG	0.562																																						ENST00000372504.1																			0				large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7						c.(460-462)cGg>cAg		zinc finger protein 691							47.0	47.0	47.0					1																	43317024		2203	4300	6503	SO:0001583	missense	51058					nucleus	DNA binding|zinc ion binding	g.chr1:43317024G>A		CCDS476.1, CCDS55595.1	1p34.2	2013-01-08			ENSG00000164011	ENSG00000164011		"""Zinc fingers, C2H2-type"""	28028	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001242739		Approved	Zfp691	uc021omh.1	Q5VV52	OTTHUMG00000007623	ENST00000372506.1:c.395G>A	1.37:g.43317024G>A	ENSP00000361584:p.Arg132Gln					ZNF691_ENST00000372508.3_Missense_Mutation_p.R132Q|ZNF691_ENST00000397044.3_Missense_Mutation_p.R163Q|ZNF691_ENST00000372502.1_Missense_Mutation_p.R154Q|ZNF691_ENST00000372507.1_Missense_Mutation_p.R132Q|ZNF691_ENST00000372506.1_Missense_Mutation_p.R132Q	p.R154Q			Q5VV52	ZN691_HUMAN			5	811	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	163					A8MXP6|B4DJR7|O95878|Q9NWE8	Missense_Mutation	SNP	ENST00000372506.1	37	c.461G>A	CCDS476.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443761	0.63067	.	.	ENSG00000164011	ENST00000372508;ENST00000372507;ENST00000372506;ENST00000397044;ENST00000372504;ENST00000372503;ENST00000372502	T;T;T;T;T;T	0.02974	4.09;4.09;4.09;4.09;4.09;4.09	5.31	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000087	T	0.10208	0.0250	M	0.62209	1.925	0.30760	N	0.744207	D;D	0.89917	0.997;1.0	P;D	0.63283	0.565;0.913	T	0.00123	-1.2026	10	0.87932	D	0	-23.7682	11.3456	0.49559	0.0878:0.0:0.9122:0.0	.	163;163	B4DJR7;Q5VV52	.;ZN691_HUMAN	Q	132;132;132;163;154;163;154	ENSP00000361586:R132Q;ENSP00000361585:R132Q;ENSP00000361584:R132Q;ENSP00000380237:R163Q;ENSP00000361582:R154Q;ENSP00000361580:R154Q	ENSP00000361580:R154Q	R	+	2	0	ZNF691	43089611	0.001000	0.12720	1.000000	0.80357	0.992000	0.81027	0.668000	0.25127	2.873000	0.98535	0.561000	0.74099	CGG		0.562	ZNF691-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020192.1	NM_015911		40	62	0	0	0	1	0	40	62				
MCCC1	56922	broad.mit.edu	37	3	182740306	182740306	+	Missense_Mutation	SNP	A	A	G	rs143892743	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:182740306A>G	ENST00000265594.4	-	16	1914	c.1768T>C	c.(1768-1770)Tac>Cac	p.Y590H	MCCC1_ENST00000492597.1_Missense_Mutation_p.Y481H|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_3'UTR	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	590					biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCCTCGCTGTAAAGATTACCA	0.313																																						ENST00000492597.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(1441-1443)Tac>Cac		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)	A	HIS/TYR	0,4406		0,0,2203	71.0	70.0	70.0		1768	0.5	0.0	3	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	MCCC1	NM_020166.3	83	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	590/726	182740306	1,13005	2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182740306A>G	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1768T>C	3.37:g.182740306A>G	ENSP00000265594:p.Tyr590His					MCCC1_ENST00000265594.4_Missense_Mutation_p.Y590H|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_3'UTR	p.Y481H			Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		15	2143	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		590			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.1441T>C	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	A	0.088	-1.171919	0.01646	0.0	1.16E-4	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000476176	D;D;D	0.95205	-3.64;-3.58;-3.39	5.67	0.527	0.17084	.	1.690830	0.02444	N	0.084856	D	0.85986	0.5825	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.77027	-0.2740	10	0.15066	T	0.55	.	5.205	0.15285	0.5325:0.2603:0.2072:0.0	.	543;481;590	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	H	590;481;440;543	ENSP00000265594:Y590H;ENSP00000419898:Y481H;ENSP00000420433:Y543H	ENSP00000265594:Y590H	Y	-	1	0	MCCC1	184223000	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.450000	0.21762	-0.064000	0.13043	0.533000	0.62120	TAC		0.313	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		15	57	0	0	0	1	0	15	57				
ITGA10	8515	broad.mit.edu	37	1	145534934	145534934	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:145534934C>T	ENST00000369304.3	+	15	2012	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R482*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R470*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	613					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTACTTTGGCCGAAGTGTGGA	0.582																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1837-1839)Cga>Tga		integrin, alpha 10							180.0	150.0	160.0					1																	145534934		2203	4300	6503	SO:0001587	stop_gained	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534934C>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1837C>T	1.37:g.145534934C>T	ENSP00000358310:p.Arg613*					ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R482*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R470*	p.R613*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			15	2012	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		613					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Nonsense_Mutation	SNP	ENST00000369304.3	37	c.1837C>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	38	7.226739	0.98146	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	.	.	.	5.07	4.15	0.48705	.	0.085098	0.45361	D	0.000373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.081	0.59114	0.1615:0.8385:0.0:0.0	.	.	.	.	X	613;579;470;482	.	ENSP00000358310:R613X	R	+	1	2	ITGA10	144246291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.047000	0.41269	1.261000	0.44149	0.609000	0.83330	CGA		0.582	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		39	194	0	0	0	1	0	39	194				
HOXA1	3198	broad.mit.edu	37	7	27135248	27135248	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:27135248C>T	ENST00000343060.4	-	1	345	c.284G>A	c.(283-285)tGt>tAt	p.C95Y	HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.C95Y	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	95					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTTGGACCACAACTTGAGTG	0.612											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(283-285)tGt>tAt		homeobox A1							76.0	78.0	77.0					7																	27135248		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135248C>T		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.284G>A	7.37:g.27135248C>T	ENSP00000343246:p.Cys95Tyr		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_ENST00000355633.5_Missense_Mutation_p.C95Y	p.C95Y	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	345	-			95					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.284G>A	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562471	0.65538	.	.	ENSG00000105991	ENST00000343060;ENST00000355633	T;T	0.31769	1.48;1.48	5.28	5.28	0.74379	.	0.252926	0.32503	N	0.006013	T	0.55940	0.1952	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.76494	0.995;0.999	D;D	0.83275	0.979;0.996	T	0.58601	-0.7608	10	0.66056	D	0.02	.	16.3954	0.83604	0.0:1.0:0.0:0.0	.	95;95	P49639;E7ERT8	HXA1_HUMAN;.	Y	95	ENSP00000343246:C95Y;ENSP00000347851:C95Y	ENSP00000343246:C95Y	C	-	2	0	HOXA1	27101773	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.586000	0.74067	2.478000	0.83669	0.313000	0.20887	TGT		0.612	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			29	149	0	0	0	1	0	29	149				
SPATA31D1	389763	broad.mit.edu	37	9	84607751	84607751	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:84607751C>T	ENST00000344803.2	+	4	2413	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	789					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTGCATGGTCCGGAGACTTCT	0.478																																						ENST00000344803.2																			0											c.(2365-2367)cCg>cTg		SPATA31 subfamily D, member 1							112.0	103.0	106.0					9																	84607751		1916	4124	6040	SO:0001583	missense	389763							g.chr9:84607751C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2366C>T	9.37:g.84607751C>T	ENSP00000341988:p.Pro789Leu						p.P789L	NM_001001670.2	NP_001001670.1					4	2413	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2366C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	c	6.753	0.507801	0.12883	.	.	ENSG00000214929	ENST00000344803	T	0.04603	3.59	2.84	-1.7	0.08159	.	2.460490	0.01506	N	0.017707	T	0.05731	0.0150	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40664	-0.9551	10	0.40728	T	0.16	1.1029	1.1399	0.01763	0.3866:0.2916:0.1904:0.1314	.	789	Q6ZQQ2	F75D1_HUMAN	L	789	ENSP00000341988:P789L	ENSP00000341988:P789L	P	+	2	0	FAM75D1	83797571	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.062000	0.03468	-0.390000	0.07774	0.455000	0.32223	CCG		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		47	88	0	0	0	1	0	47	88				
FIBCD1	84929	broad.mit.edu	37	9	133780652	133780652	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:133780652C>T	ENST00000372338.4	-	6	1337	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	FIBCD1_ENST00000372337.2_Silent_p.P207P|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.P365P	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	365	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCACGGTGAGCGGGTACCCGT	0.657																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1093-1095)ccG>ccA		fibrinogen C domain containing 1							50.0	44.0	46.0					9																	133780652		2203	4300	6503	SO:0001819	synonymous_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133780652C>T	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1095G>A	9.37:g.133780652C>T						FIBCD1_ENST00000372337.2_Silent_p.P207P|FIBCD1_ENST00000448616.1_Silent_p.P365P|FIBCD1_ENST00000253018.4_Intron	p.P365P	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	6	1337	-	all_hematologic(7;0.0028)		365			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	c.1095G>A	CCDS6937.1																																																																																				0.657	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		15	46	0	0	0	1	0	15	46				
TTN	7273	broad.mit.edu	37	2	179412628	179412628	+	Missense_Mutation	SNP	C	C	T	rs369899675		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179412628C>T	ENST00000591111.1	-	289	89026	c.88802G>A	c.(88801-88803)cGt>cAt	p.R29601H	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31242H|TTN_ENST00000342992.6_Missense_Mutation_p.R28674H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22369H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22302H|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22177H			Q8WZ42	TITIN_HUMAN	titin	29601	Ig-like 135.				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)			GGGGGCAGGACGACCACTGAT	0.448																																						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.(93724-93726)cGt>cAt		titin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3988		0,0,1994	95.0	87.0	90.0		66530,86021,66905,67106	5.9	1.0	2		90	1,8311		0,1,4155	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,6149	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging	22177/26927,28674/33424,22302/27052,22369/27119	179412628	1,12299	1994	4156	6150	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412628C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88802G>A	2.37:g.179412628C>T	ENSP00000465570:p.Arg29601His					TTN_ENST00000342992.6_Missense_Mutation_p.R28674H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22177H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22369H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22302H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29601H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.R31242H	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)		339	93949	-			29601			Fibronectin type-III 127.		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.93725G>A		.	.	.	.	.	.	.	.	.	.	C	20.8	4.048095	0.75846	0.0	1.2E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80529	0.4640	L	0.55834	1.745	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	T	0.80598	-0.1311	9	0.87932	D	0	.	20.3081	0.98638	0.0:1.0:0.0:0.0	.	22177;22302;22369;29601	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28674;22177;22369;22302;22174	ENSP00000343764:R28674H;ENSP00000434586:R22177H;ENSP00000340554:R22369H;ENSP00000352154:R22302H	ENSP00000340554:R22369H	R	-	2	0	TTN	179120874	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.818000	0.86416	2.795000	0.96236	0.655000	0.94253	CGT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	47	0	0	0	1	0	26	47				
SPEG	10290	broad.mit.edu	37	2	220334066	220334066	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:220334066G>A	ENST00000312358.7	+	13	3812	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1227	Ig-like 6.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AATGGCCACCGCATCCAGAGC	0.642																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(3679-3681)cGc>cAc		SPEG complex locus							42.0	50.0	48.0					2																	220334066		2166	4257	6423	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220334066G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3680G>A	2.37:g.220334066G>A	ENSP00000311684:p.Arg1227His					SPEG_ENST00000485813.1_3'UTR	p.R1227H	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	13	3812	+		Renal(207;0.0183)	1227			Ig-like 6.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3680G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542800	0.65198	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.67345	-0.26	4.94	4.94	0.65067	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42821	D	0.000657	T	0.75642	0.3877	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76828	-0.2815	10	0.66056	D	0.02	.	11.7746	0.51979	0.0799:0.0:0.9201:0.0	.	1227	Q15772	SPEG_HUMAN	H	1227	ENSP00000311684:R1227H	ENSP00000265327:R1227H	R	+	2	0	SPEG	220042310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.232000	0.51302	2.573000	0.86826	0.655000	0.94253	CGC		0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		36	37	0	0	0	1	0	36	37				
ZNF416	55659	broad.mit.edu	37	19	58084870	58084870	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58084870C>T	ENST00000196489.3	-	4	624	c.402G>A	c.(400-402)gcG>gcA	p.A134A		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GGTGAAAGACCGCACATGCCC	0.502																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(400-402)gcG>gcA		zinc finger protein 416							106.0	85.0	92.0					19																	58084870		2203	4300	6503	SO:0001819	synonymous_variant	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084870C>T	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.402G>A	19.37:g.58084870C>T							p.A134A	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	624	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	134					Q9NWW8	Silent	SNP	ENST00000196489.3	37	c.402G>A	CCDS12954.1																																																																																				0.502	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		14	51	0	0	0	1	0	14	51				
ANKMY1	51281	broad.mit.edu	37	2	241468876	241468876	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241468876G>A	ENST00000272972.3	-	4	478	c.264C>T	c.(262-264)ccC>ccT	p.P88P	ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.P177P|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000391987.1_Silent_p.P88P|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000406958.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	88							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCTGCCATCGGGGTAGGTCT	0.602																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(262-264)ccC>ccT		ankyrin repeat and MYND domain containing 1							39.0	44.0	42.0					2																	241468876		2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241468876G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.264C>T	2.37:g.241468876G>A						ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Silent_p.P177P|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000272972.3_Silent_p.P88P	p.P88P			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	630	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	88					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.264C>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	G	4.432	0.079896	0.08533	.	.	ENSG00000144504	ENST00000443318	.	.	.	4.91	-7.94	0.01152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.2575	2.8509	0.05558	0.3809:0.1999:0.327:0.0921	.	.	.	.	X	33	.	.	R	-	1	2	ANKMY1	241117549	0.002000	0.14202	0.759000	0.31340	0.309000	0.27889	-3.015000	0.00645	-1.178000	0.02741	-1.152000	0.01820	CGA		0.602	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		27	50	0	0	0	1	0	27	50				
TNN	63923	broad.mit.edu	37	1	175097740	175097740	+	Missense_Mutation	SNP	G	G	A	rs377367173		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:175097740G>A	ENST00000239462.4	+	15	3301	c.3188G>A	c.(3187-3189)cGt>cAt	p.R1063H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1063	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.|Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTGGTGCCCGTTTCCCACAC	0.527																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3187-3189)cGt>cAt		tenascin N		G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	86.0	83.0	84.0		3188	3.2	0.9	1		84	1,8599		0,1,4299	no	missense	TNN	NM_022093.1	29	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	possibly-damaging	1063/1300	175097740	5,13001	2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175097740G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3188G>A	1.37:g.175097740G>A	ENSP00000239462:p.Arg1063His						p.R1063H	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	15	3301	+		Breast(1374;0.000962)	1063			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3188G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051208	0.55218	9.08E-4	1.16E-4	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.81163	-1.46	5.11	3.22	0.36961	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.377447	0.25839	N	0.027978	T	0.72985	0.3529	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.50970	0.655	T	0.63193	-0.6692	10	0.40728	T	0.16	.	4.1303	0.10146	0.1904:0.0:0.6243:0.1853	.	1063	Q9UQP3	TENN_HUMAN	H	1063;886	ENSP00000239462:R1063H	ENSP00000239462:R1063H	R	+	2	0	TNN	173364363	0.127000	0.22367	0.929000	0.37066	0.918000	0.54935	1.911000	0.39937	1.157000	0.42530	0.462000	0.41574	CGT		0.527	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		37	141	0	0	0	1	0	37	141				
SHROOM3	57619	broad.mit.edu	37	4	77662039	77662039	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:77662039C>T	ENST00000296043.6	+	5	3666	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	905					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCCGAGTGGCGGGACAGGCC	0.711																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2713-2715)Cgg>Tgg		shroom family member 3							6.0	8.0	7.0					4																	77662039		1951	3930	5881	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77662039C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2713C>T	4.37:g.77662039C>T	ENSP00000296043:p.Arg905Trp						p.R905W	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3666	+			905					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2713C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	8.856	0.945713	0.18356	.	.	ENSG00000138771	ENST00000296043	T	0.43294	0.95	4.92	-1.17	0.09648	Apx/shroom, ASD1 (1);	3.619230	0.01482	N	0.016707	T	0.31358	0.0794	L	0.29908	0.895	0.09310	N	1	P;D;P	0.56035	0.913;0.974;0.913	B;B;B	0.43990	0.438;0.438;0.438	T	0.21895	-1.0232	10	0.72032	D	0.01	0.5028	1.2305	0.01942	0.4434:0.2481:0.1108:0.1976	.	729;905;683	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	W	905	ENSP00000296043:R905W	ENSP00000296043:R905W	R	+	1	2	SHROOM3	77881063	0.075000	0.21258	0.002000	0.10522	0.002000	0.02628	0.299000	0.19138	-0.136000	0.11475	0.558000	0.71614	CGG		0.711	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		11	19	0	0	0	1	0	11	19				
RAD54L	8438	broad.mit.edu	37	1	46739410	46739410	+	Missense_Mutation	SNP	G	G	A	rs144207599	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:46739410G>A	ENST00000371975.4	+	14	2275	c.1601G>A	c.(1600-1602)cGt>cAt	p.R534H	RAD54L_ENST00000442598.1_Missense_Mutation_p.R534H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	534	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		R -> C (in dbSNP:rs28363240). {ECO:0000269|Ref.2}.		chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGCTGTGCCGTGCCCGAAGG	0.512								Direct reversal of damage;Homologous recombination					G|||	10	0.00199681	0.0076	0.0	5008	,	,		19290	0.0		0.0	False		,,,				2504	0.0					ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1600-1602)cGt>cAt	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)		G	HIS/ARG,HIS/ARG	29,4377	33.5+/-64.1	0,29,2174	47.0	50.0	49.0		1601,1601	4.9	1.0	1	dbSNP_134	49	0,8600		0,0,4300	yes	missense,missense	RAD54L	NM_001142548.1,NM_003579.3	29,29	0,29,6474	AA,AG,GG		0.0,0.6582,0.223	possibly-damaging,possibly-damaging	534/748,534/748	46739410	29,12977	2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46739410G>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1601G>A	1.37:g.46739410G>A	ENSP00000361043:p.Arg534His					RAD54L_ENST00000442598.1_Missense_Mutation_p.R534H|RAD54L_ENST00000488942.1_3'UTR	p.R534H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	14	2275	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	534		R -> C (in dbSNP:rs28363240).	Helicase C-terminal.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1601G>A	CCDS532.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.95	3.920978	0.73213	0.006582	0.0	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.76839	-1.05;-1.05	4.94	4.94	0.65067	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	L	0.59436	1.845	0.80722	D	1	B;B	0.17268	0.021;0.006	B;B	0.10450	0.005;0.004	T	0.72776	-0.4191	10	0.72032	D	0.01	-14.3979	18.4203	0.90588	0.0:0.0:1.0:0.0	.	354;534	G3V1N0;Q92698	.;RAD54_HUMAN	H	534;534;354	ENSP00000396113:R534H;ENSP00000361043:R534H	ENSP00000361043:R534H	R	+	2	0	RAD54L	46511997	1.000000	0.71417	0.979000	0.43373	0.875000	0.50365	9.364000	0.97136	2.596000	0.87737	0.558000	0.71614	CGT		0.512	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		7	13	0	0	0	1	0	7	13				
AHCTF1	25909	broad.mit.edu	37	1	247021040	247021040	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:247021040C>T	ENST00000391829.2	-	30	4332	c.4209G>A	c.(4207-4209)ccG>ccA	p.P1403P	AHCTF1_ENST00000366508.1_Silent_p.P1438P|AHCTF1_ENST00000326225.3_Silent_p.P1412P|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1403	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCCTTGAACCGGGCTTAAGT	0.343																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(4312-4314)ccG>ccA		AT hook containing transcription factor 1							59.0	60.0	59.0					1																	247021040		2203	4300	6503	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247021040C>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4209G>A	1.37:g.247021040C>T						AHCTF1_ENST00000391829.2_Silent_p.P1403P|AHCTF1_ENST00000326225.3_Silent_p.P1412P|AHCTF1_ENST00000470300.1_5'UTR	p.P1438P			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		30	4450	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1403			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.4314G>A																																																																																					0.343	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		4	69	0	0	0	1	0	4	69				
CNGA4	1262	broad.mit.edu	37	11	6261503	6261503	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:6261503G>A	ENST00000379936.2	+	4	594	c.479G>A	c.(478-480)cGc>cAc	p.R160H	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	160					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGAGACCCGCACAGCTTAC	0.587																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(478-480)cGc>cAc		cyclic nucleotide gated channel alpha 4							73.0	76.0	75.0					11																	6261503		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261503G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.479G>A	11.37:g.6261503G>A	ENSP00000369268:p.Arg160His					CNGA4_ENST00000533426.1_Intron	p.R160H	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	594	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	160						Missense_Mutation	SNP	ENST00000379936.2	37	c.479G>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021284	0.93462	.	.	ENSG00000132259	ENST00000379936	D	0.98862	-5.19	5.26	5.26	0.73747	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98492	0.9497	M	0.85542	2.76	0.58432	D	0.999993	D;D	0.63046	0.992;0.966	P;P	0.50049	0.581;0.629	D	0.99799	1.1035	10	0.16420	T	0.52	.	17.7792	0.88518	0.0:0.0:1.0:0.0	.	160;120	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	H	160	ENSP00000369268:R160H	ENSP00000369268:R160H	R	+	2	0	CNGA4	6218079	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	7.548000	0.82154	2.607000	0.88179	0.655000	0.94253	CGC		0.587	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		6	178	0	0	0	1	0	6	178				
CSTF3	1479	broad.mit.edu	37	11	33120307	33120307	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33120307G>A	ENST00000323959.4	-	13	1196	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	353					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TACTTCATGCGACTCTAAGGT	0.393																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1057-1059)Cgc>Tgc		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							171.0	179.0	176.0					11																	33120307		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33120307G>A	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1057C>T	11.37:g.33120307G>A	ENSP00000315791:p.Arg353Cys					TCP11L1_ENST00000324357.9_Intron	p.R353C	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			13	1196	-			353					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1057C>T	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448184	0.84101	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36157	1.27	5.71	5.71	0.89125	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.89904	3.07	0.80722	D	1	D	0.58970	0.984	P	0.47744	0.556	T	0.64084	-0.6490	10	0.62326	D	0.03	.	13.1117	0.59277	0.0731:0.0:0.9269:0.0	.	353	Q12996	CSTF3_HUMAN	C	353;286	ENSP00000315791:R353C	ENSP00000315791:R353C	R	-	1	0	CSTF3	33076883	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.863000	0.99569	2.700000	0.92200	0.650000	0.86243	CGC		0.393	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		28	112	0	0	0	1	0	28	112				
LRBA	987	broad.mit.edu	37	4	151829999	151829999	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151829999T>G	ENST00000357115.3	-	10	1415	c.1172A>C	c.(1171-1173)aAa>aCa	p.K391T	LRBA_ENST00000510413.1_Missense_Mutation_p.K391T|LRBA_ENST00000507224.1_Missense_Mutation_p.K391T|LRBA_ENST00000535741.1_Missense_Mutation_p.K391T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	391						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCTTTGAATTTAAATGTACC	0.363																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1171-1173)aAa>aCa		LPS-responsive vesicle trafficking, beach and anchor containing							59.0	56.0	57.0					4																	151829999		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151829999T>G	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1172A>C	4.37:g.151829999T>G	ENSP00000349629:p.Lys391Thr					LRBA_ENST00000510413.1_Missense_Mutation_p.K391T|LRBA_ENST00000357115.3_Missense_Mutation_p.K391T|LRBA_ENST00000507224.1_Missense_Mutation_p.K391T	p.K391T			P50851	LRBA_HUMAN			10	1645	-	all_hematologic(180;0.151)		391					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.1172A>C	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420637	0.83559	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.80555	0.4645	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.991;0.997;0.997	T	0.82317	-0.0517	10	0.56958	D	0.05	.	15.0673	0.72005	0.0:0.0:0.0:1.0	.	391;391;391	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	T	391	ENSP00000446299:K391T;ENSP00000421552:K391T;ENSP00000349629:K391T;ENSP00000422180:K391T	ENSP00000349629:K391T	K	-	2	0	LRBA	152049449	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.993000	0.88291	2.026000	0.59711	0.460000	0.39030	AAA		0.363	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			19	64	0	0	0	1	0	19	64				
AGO2	27161	broad.mit.edu	37	8	141595388	141595388	+	Silent	SNP	C	C	T	rs141930048		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:141595388C>T	ENST00000220592.5	-	2	157	c.45G>A	c.(43-45)ccG>ccA	p.P15P	AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Silent_p.P15P	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	15					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										GGATGGGGGGCGGCGGCGCAG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15219	0.0		0.0	False		,,,				2504	0.001					ENST00000220592.5																			0											c.(43-45)ccG>ccA		argonaute RISC catalytic component 2		C	,	3,4403	6.2+/-15.9	0,3,2200	52.0	57.0	56.0		45,45	-8.1	0.0	8	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EIF2C2	NM_001164623.1,NM_012154.3	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	15/826,15/860	141595388	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27161							g.chr8:141595388C>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.45G>A	8.37:g.141595388C>T						AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Silent_p.P15P	p.P15P	NM_012154.3	NP_036286.2					2	157	-								Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.45G>A	CCDS6380.1																																																																																				0.592	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			30	62	0	0	0	1	0	30	62				
USP32	84669	broad.mit.edu	37	17	58259033	58259033	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:58259033C>T	ENST00000300896.4	-	32	4394	c.4200G>A	c.(4198-4200)cgG>cgA	p.R1400R	USP32_ENST00000592339.1_Silent_p.R1070R	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1400	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCCCCAAAGTCCGTGGGCTGC	0.483																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(4198-4200)cgG>cgA		ubiquitin specific peptidase 32							16.0	18.0	18.0					17																	58259033		2201	4276	6477	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58259033C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4200G>A	17.37:g.58259033C>T						USP32_ENST00000592339.1_Silent_p.R1070R	p.R1400R	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		32	4394	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1400					Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.4200G>A	CCDS32697.1																																																																																				0.483	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		16	56	0	0	0	1	0	16	56				
LINC00477	144360	broad.mit.edu	37	12	24736338	24736338	+	lincRNA	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:24736338C>T	ENST00000483544.1	-	0	764					NR_029451.2		Q96M19	CL067_HUMAN	long intergenic non-protein coding RNA 477							integral component of membrane (GO:0016021)											GCACCCTTTGCGAGGGGCACG	0.557																																						ENST00000483544.1																			0																																																			0							g.chr12:24736338C>T	AK057456		12p12.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000197503	ENSG00000197503		"""Long non-coding RNAs"""	26557	non-coding RNA	RNA, long non-coding	"""family with sequence similarity 191, member B"""		"""chromosome 12 open reading frame 67"""	C12orf67		14702039	Standard	NR_029451		Approved	FLJ32894, FAM191B	uc001rgb.1	Q96M19	OTTHUMG00000159485		12.37:g.24736338C>T								NR_029451.2						0	764	-									RNA	SNP	ENST00000483544.1	37																																																																																						0.557	LINC00477-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000355725.1	NM_144667		15	43	0	0	0	1	0	15	43				
CPNE3	8895	broad.mit.edu	37	8	87559941	87559941	+	Silent	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:87559941T>C	ENST00000521271.1	+	11	984	c.822T>C	c.(820-822)atT>atC	p.I274I	CPNE3_ENST00000198765.4_Silent_p.I274I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	274					lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ATTTTTAGATTACAGTAGAAT	0.308																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(820-822)atT>atC		copine III							73.0	64.0	67.0					8																	87559941		2201	4295	6496	SO:0001819	synonymous_variant	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87559941T>C	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.822T>C	8.37:g.87559941T>C						CPNE3_ENST00000198765.4_Silent_p.I274I	p.I274I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			11	984	+			274					A8KA47|Q8IYA1	Silent	SNP	ENST00000521271.1	37	c.822T>C	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626508	0.28978	.	.	ENSG00000085719	ENST00000517391	.	.	.	5.8	0.563	0.17296	.	.	.	.	.	T	0.41259	0.1151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22941	-1.0202	4	.	.	.	-1.4106	0.6211	0.00778	0.2358:0.2097:0.1219:0.4326	.	.	.	.	S	163	.	.	L	+	2	0	CPNE3	87629057	1.000000	0.71417	0.997000	0.53966	0.819000	0.46315	0.683000	0.25349	-0.119000	0.11830	0.533000	0.62120	TTA		0.308	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			7	10	0	0	0	1	0	7	10				
RP11-383M4.6	0	broad.mit.edu	37	9	84547989	84547989	+	lincRNA	SNP	C	C	T	rs566858903	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:84547989C>T	ENST00000585776.1	-	0	1039				RP11-383M4.2_ENST00000427387.1_lincRNA|SPATA31D4_ENST00000341875.4_RNA																							GTCTCATAGACGAAGCACTTT	0.463													c|||	7	0.00139776	0.0008	0.0014	5008	,	,		20593	0.001		0.0	False		,,,				2504	0.0041					ENST00000585776.1																			0																																																			0							g.chr9:84547989C>T																													9.37:g.84547989C>T						SPATA31D4_ENST00000341875.4_RNA								0	1039	-									RNA	SNP	ENST00000585776.1	37																																																																																						0.463	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			32	50	0	0	0	1	0	32	50				
ADAMTS9	56999	broad.mit.edu	37	3	64536656	64536656	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:64536656C>T	ENST00000498707.1	-	31	5123	c.4781G>A	c.(4780-4782)cGc>cAc	p.R1594H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1566H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1594	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACGTCACAGCGTGCCCCATG	0.552																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(4780-4782)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 9							208.0	171.0	184.0					3																	64536656		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64536656C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4781G>A	3.37:g.64536656C>T	ENSP00000418735:p.Arg1594His					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1566H	p.R1594H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	31	5123	-		Lung NSC(201;0.00682)	1594			TSP type-1 13.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.4781G>A	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.260|3.260	-0.151307|-0.151307	0.06585|0.06585	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.52983	.|0.64;0.64	5.83|5.83	3.42|3.42	0.39159|0.39159	.|.	.|0.255751	.|0.39985	.|N	.|0.001216	T|T	0.18882|0.18882	0.0453|0.0453	N|N	0.03154|0.03154	-0.405|-0.405	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.04191|0.04191	-1.0970|-1.0970	5|10	.|0.15499	.|T	.|0.54	.|.	4.328|4.328	0.11050|0.11050	0.1229:0.0691:0.1284:0.6795|0.1229:0.0691:0.1284:0.6795	.|.	.|1566;1594;1594	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	T|H	650|1566;1594	.|ENSP00000295903:R1566H;ENSP00000418735:R1594H	.|ENSP00000295903:R1566H	A|R	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64511696|64511696	0.958000|0.958000	0.32768|0.32768	0.369000|0.369000	0.25952|0.25952	0.021000|0.021000	0.10359|0.10359	1.240000|1.240000	0.32731|0.32731	0.444000|0.444000	0.26612|0.26612	-0.482000|-0.482000	0.04802|0.04802	GCT|CGC		0.552	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			156	64	0	0	0	1	0	156	64				
HDLBP	3069	broad.mit.edu	37	2	242169651	242169651	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242169651C>A	ENST00000391975.1	-	26	3735	c.3508G>T	c.(3508-3510)Gac>Tac	p.D1170Y	HDLBP_ENST00000427183.2_Missense_Mutation_p.D1137Y|HDLBP_ENST00000391976.2_Missense_Mutation_p.D1170Y|HDLBP_ENST00000310931.4_Missense_Mutation_p.D1170Y	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1170	KH 14. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CAGTTGGGGTCTGGGGCTCCG	0.557																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3508-3510)Gac>Tac		high density lipoprotein binding protein							54.0	51.0	52.0					2																	242169651		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242169651C>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3508G>T	2.37:g.242169651C>A	ENSP00000375836:p.Asp1170Tyr					HDLBP_ENST00000427183.2_Missense_Mutation_p.D1137Y|HDLBP_ENST00000391976.2_Missense_Mutation_p.D1170Y|HDLBP_ENST00000310931.4_Missense_Mutation_p.D1170Y	p.D1170Y	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	26	3735	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1170			KH 14.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.3508G>T	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753674	0.49362	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000442730	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.91	4.13	0.48395	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.040436	0.85682	D	0.000000	T	0.62514	0.2434	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.67791	-0.5579	10	0.87932	D	0	-44.0364	12.6665	0.56846	0.0:0.8677:0.0:0.1323	.	1137;1170	E7EM71;Q00341	.;VIGLN_HUMAN	Y	1170;1170;1170;1137;34	ENSP00000375836:D1170Y;ENSP00000375837:D1170Y;ENSP00000312042:D1170Y;ENSP00000399139:D1137Y;ENSP00000411211:D34Y	ENSP00000312042:D1170Y	D	-	1	0	HDLBP	241818324	1.000000	0.71417	0.084000	0.20598	0.005000	0.04900	5.906000	0.69900	0.845000	0.35118	-0.150000	0.13652	GAC		0.557	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		5	118	1	0	0.00198382	1	0.00199832	5	118				
HTRA3	94031	broad.mit.edu	37	4	8293224	8293224	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:8293224G>A	ENST00000307358.2	+	4	1040	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	HTRA3_ENST00000382512.3_Missense_Mutation_p.R279Q	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	279	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						ACTGCCCAGCGGGAGGGCAGG	0.657																																						ENST00000307358.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(835-837)cGg>cAg		HtrA serine peptidase 3							46.0	42.0	44.0					4																	8293224		2203	4299	6502	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8293224G>A	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.836G>A	4.37:g.8293224G>A	ENSP00000303766:p.Arg279Gln					HTRA3_ENST00000382512.3_Missense_Mutation_p.R279Q	p.R279Q	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN			4	1040	+			279			Serine protease.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.836G>A	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	g	33	5.268300	0.95429	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.90004	-2.6;-2.6	4.08	4.08	0.47627	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.95133	0.8423	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.96305	0.9224	10	0.87932	D	0	-27.0406	16.298	0.82784	0.0:0.0:1.0:0.0	.	279;279	P83110;P83110-2	HTRA3_HUMAN;.	Q	279	ENSP00000303766:R279Q;ENSP00000371952:R279Q	ENSP00000303766:R279Q	R	+	2	0	HTRA3	8344124	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.110000	0.94302	1.837000	0.53436	0.454000	0.30748	CGG		0.657	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		38	37	0	0	0	1	0	38	37				
CDH22	64405	broad.mit.edu	37	20	44838993	44838993	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:44838993G>A	ENST00000372262.3	-	6	1639	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	CDH22_ENST00000537909.1_Silent_p.V413V|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	413	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCACGCCGACCAGGGAGC	0.771																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1237-1239)gtC>gtT		cadherin 22, type 2							2.0	3.0	3.0					20																	44838993		1641	3403	5044	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44838993G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1239C>T	20.37:g.44838993G>A						CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.V413V	p.V413V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			6	1639	-		Myeloproliferative disorder(115;0.0122)	413			Cadherin 4.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1239C>T	CCDS13395.1																																																																																				0.771	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		6	4	0	0	0	1	0	6	4				
ABCA4	24	broad.mit.edu	37	1	94574157	94574157	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:94574157G>A	ENST00000370225.3	-	4	504	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ABCA4_ENST00000535735.1_Missense_Mutation_p.R140W	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	140					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTGAGTCCGGAGGGTGTCC	0.493																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(418-420)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 4							111.0	104.0	106.0					1																	94574157		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94574157G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.418C>T	1.37:g.94574157G>A	ENSP00000359245:p.Arg140Trp					ABCA4_ENST00000535735.1_Missense_Mutation_p.R140W	p.R140W	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	4	504	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	140					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.418C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722147	0.68959	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91686	-2.77;-2.89	5.55	-4.67	0.03319	.	0.000000	0.85682	D	0.000000	D	0.94896	0.8350	M	0.84511	2.7	0.39374	D	0.966143	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	D	0.94717	0.7897	10	0.72032	D	0.01	.	19.2089	0.93746	0.0:0.0:0.3445:0.6555	.	140;140	F5H6E5;P78363	.;ABCA4_HUMAN	W	140	ENSP00000359245:R140W;ENSP00000437682:R140W	ENSP00000359245:R140W	R	-	1	2	ABCA4	94346745	0.521000	0.26258	0.983000	0.44433	0.834000	0.47266	0.739000	0.26173	-0.503000	0.06586	0.557000	0.71058	CGG		0.493	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		6	150	0	0	0	1	0	6	150				
TRADD	8717	broad.mit.edu	37	16	67188655	67188655	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67188655C>T	ENST00000345057.4	-	5	1304	c.836G>A	c.(835-837)cGc>cAc	p.R279H	TRADD_ENST00000566104.1_5'Flank|TRADD_ENST00000486556.1_Missense_Mutation_p.R219H	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	279	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.|Interaction with KRT14 and KRT18.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCGTGGCGCGGCGGCCCTC	0.706																																						ENST00000345057.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11						c.(835-837)cGc>cAc		TNFRSF1A-associated via death domain							15.0	12.0	13.0					16																	67188655		2187	4279	6466	SO:0001583	missense	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67188655C>T	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.836G>A	16.37:g.67188655C>T	ENSP00000341268:p.Arg279His					TRADD_ENST00000486556.1_Missense_Mutation_p.R219H	p.R279H	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1304	-		Ovarian(137;0.0563)	279			Death.|Interaction with KRT14 and KRT18.		B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP	ENST00000345057.4	37	c.836G>A	CCDS10829.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814858	0.50527	.	.	ENSG00000102871	ENST00000345057	D	0.85339	-1.97	4.94	4.94	0.65067	Death (3);DEATH-like (2);	0.272209	0.34700	N	0.003751	D	0.84951	0.5586	L	0.34521	1.04	0.31585	N	0.654591	D	0.89917	1.0	D	0.66602	0.945	T	0.83111	-0.0123	10	0.37606	T	0.19	-18.5003	7.3437	0.26652	0.0:0.8243:0.0:0.1757	.	279	Q15628	TRADD_HUMAN	H	279	ENSP00000341268:R279H	ENSP00000341268:R279H	R	-	2	0	TRADD	65746156	0.081000	0.21417	1.000000	0.80357	0.996000	0.88848	1.459000	0.35234	2.584000	0.87258	0.462000	0.41574	CGC		0.706	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			7	19	0	0	0	1	0	7	19				
DUS3L	56931	broad.mit.edu	37	19	5786850	5786850	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5786850C>T	ENST00000309061.7	-	9	1492	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000590681.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.G224S|PRR22_ENST00000419421.2_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	466							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CGAGAGCGGCCGTGGAGCTGG	0.642																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1396-1398)Ggc>Agc		dihydrouridine synthase 3-like (S. cerevisiae)							19.0	23.0	22.0					19																	5786850		2198	4293	6491	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5786850C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1396G>A	19.37:g.5786850C>T	ENSP00000311977:p.Gly466Ser					DUS3L_ENST00000320699.8_Missense_Mutation_p.G224S	p.G466S	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			9	1492	-			466					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1396G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333935	0.95758	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.44083	0.93;0.93	5.01	5.01	0.66863	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	H	0.99286	4.5	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88375	0.2997	10	0.72032	D	0.01	-28.5729	15.8427	0.78861	0.0:1.0:0.0:0.0	.	224;466	Q96G46-3;Q96G46	.;DUS3L_HUMAN	S	466;224	ENSP00000311977:G466S;ENSP00000315558:G224S	ENSP00000311977:G466S	G	-	1	0	DUS3L	5737850	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	7.080000	0.76837	2.324000	0.78689	0.549000	0.68633	GGC		0.642	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		11	20	0	0	0	1	0	11	20				
BPIFB4	149954	broad.mit.edu	37	20	31671678	31671678	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:31671678G>A	ENST00000375483.3	+	3	675	c.675G>A	c.(673-675)acG>acA	p.T225T		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	225	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AAGGCATCACGGGGTAAGGAG	0.627																																						ENST00000375483.3																			0											c.(673-675)acG>acA		BPI fold containing family B, member 4							30.0	34.0	33.0					20																	31671678		2173	4244	6417	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671678G>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.675G>A	20.37:g.31671678G>A							p.T225T	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			3	675	+			225			Gly-rich.		Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.675G>A	CCDS13213.2																																																																																				0.627	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		44	52	0	0	0	1	0	44	52				
TCF7L1	83439	broad.mit.edu	37	2	85531438	85531438	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:85531438C>T	ENST00000282111.3	+	7	1097	c.822C>T	c.(820-822)ctC>ctT	p.L274L		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	274	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACCCCGCCCTCGCCATGAACG	0.592																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(820-822)ctC>ctT		transcription factor 7-like 1 (T-cell specific, HMG-box)							103.0	93.0	97.0					2																	85531438		2203	4300	6503	SO:0001819	synonymous_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85531438C>T	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.822C>T	2.37:g.85531438C>T							p.L274L	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			7	1097	+			274			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000282111.3	37	c.822C>T	CCDS1971.1																																																																																				0.592	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		67	73	0	0	0	1	0	67	73				
LRP6	4040	broad.mit.edu	37	12	12302045	12302045	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:12302045C>T	ENST00000261349.4	-	14	3113	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	LRP6_ENST00000543091.1_Missense_Mutation_p.E1013K	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1013	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTTGTATTTCCAGGTTCTGA	0.438																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3037-3039)Gaa>Aaa		low density lipoprotein receptor-related protein 6							204.0	203.0	203.0					12																	12302045		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12302045C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3037G>A	12.37:g.12302045C>T	ENSP00000261349:p.Glu1013Lys					LRP6_ENST00000543091.1_Missense_Mutation_p.E1013K	p.E1013K	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			14	3113	-		Prostate(47;0.0865)	1013			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3037G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001712	0.74932	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91180	-2.8;-2.8	5.91	5.91	0.95273	Six-bladed beta-propeller, TolB-like (1);	0.088817	0.45867	U	0.000324	D	0.84379	0.5459	N	0.20986	0.625	0.49299	D	0.999777	B;B	0.14805	0.008;0.011	B;B	0.09377	0.003;0.004	T	0.78981	-0.1989	10	0.09084	T	0.74	.	20.3011	0.98612	0.0:1.0:0.0:0.0	.	1013;1013	F5H7J9;O75581	.;LRP6_HUMAN	K	1013	ENSP00000261349:E1013K;ENSP00000442472:E1013K	ENSP00000261349:E1013K	E	-	1	0	LRP6	12193312	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.580000	0.67464	2.804000	0.96469	0.650000	0.86243	GAA		0.438	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			147	216	0	0	0	1	0	147	216				
VAV1	7409	broad.mit.edu	37	19	6772867	6772867	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:6772867C>G	ENST00000602142.1	+	1	131	c.49C>G	c.(49-51)Ctg>Gtg	p.L17V	VAV1_ENST00000596764.1_Missense_Mutation_p.L17V|VAV1_ENST00000304076.2_Missense_Mutation_p.L17V|VAV1_ENST00000539284.1_5'Flank	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	17	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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						GTGCCGGGTGCTGCCGCCCAG	0.677																																						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.(49-51)Ctg>Gtg		vav 1 guanine nucleotide exchange factor							73.0	56.0	61.0					19																	6772867		2201	4299	6500	SO:0001583	missense	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.chr19:6772867C>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.49C>G	19.37:g.6772867C>G	ENSP00000472929:p.Leu17Val					VAV1_ENST00000596764.1_Missense_Mutation_p.L17V|VAV1_ENST00000602142.1_Missense_Mutation_p.L17V	p.L17V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			1	143	+			17			CH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.49C>G	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	c	24.0	4.477602	0.84640	.	.	ENSG00000141968	ENST00000304076	T	0.61274	0.12	4.18	4.18	0.49190	Calponin homology domain (5);	0.000000	0.51477	U	0.000087	T	0.75317	0.3833	M	0.78049	2.395	0.80722	D	1	D;D	0.71674	0.968;0.998	D;D	0.91635	0.988;0.999	T	0.79688	-0.1699	10	0.87932	D	0	.	13.9942	0.64386	0.0:1.0:0.0:0.0	.	17;17	B2R8B5;P15498	.;VAV_HUMAN	V	17	ENSP00000302269:L17V	ENSP00000302269:L17V	L	+	1	2	VAV1	6723867	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	2.783000	0.47766	1.870000	0.54199	0.306000	0.20318	CTG		0.677	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			15	80	0	0	0	1	0	15	80				
BEST3	144453	broad.mit.edu	37	12	70048984	70048984	+	Silent	SNP	G	G	A	rs376220817		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:70048984G>A	ENST00000330891.5	-	10	1936	c.1710C>T	c.(1708-1710)agC>agT	p.S570S	BEST3_ENST00000488961.1_Silent_p.S357S|BEST3_ENST00000553096.1_Silent_p.S464S|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	570					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTCCTCAGCGCTGGCTGAAA	0.557																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1708-1710)agC>agT		bestrophin 3		G	,	1,3703		0,1,1851	42.0	42.0	42.0		1710,1071	-7.7	0.0	12		42	0,8188		0,0,4094	no	coding-synonymous,coding-synonymous	BEST3	NM_032735.2,NM_152439.2	,	0,1,5945	AA,AG,GG		0.0,0.027,0.0084	,	570/669,357/456	70048984	1,11891	1852	4094	5946	SO:0001819	synonymous_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70048984G>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1710C>T	12.37:g.70048984G>A						BEST3_ENST00000553096.1_Silent_p.S464S|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Silent_p.S357S	p.S570S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1936	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		570					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	c.1710C>T	CCDS8992.2																																																																																				0.557	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		22	77	0	0	0	1	0	22	77				
NLRP2	55655	broad.mit.edu	37	19	55494882	55494882	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55494882C>T	ENST00000543010.1	+	6	1959	c.1816C>T	c.(1816-1818)Ctc>Ttc	p.L606F	NLRP2_ENST00000263437.6_Missense_Mutation_p.L603F|NLRP2_ENST00000538819.1_Missense_Mutation_p.L582F|NLRP2_ENST00000427260.2_Missense_Mutation_p.L583F|NLRP2_ENST00000391721.4_Missense_Mutation_p.L582F|NLRP2_ENST00000339757.7_Missense_Mutation_p.L584F|NLRP2_ENST00000448584.2_Missense_Mutation_p.L606F|NLRP2_ENST00000537859.1_Missense_Mutation_p.L584F	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	606					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCAGGAGCTCCTCGGCTGTCT	0.517																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1816-1818)Ctc>Ttc		NLR family, pyrin domain containing 2							93.0	80.0	84.0					19																	55494882		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494882C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1816C>T	19.37:g.55494882C>T	ENSP00000445135:p.Leu606Phe					NLRP2_ENST00000538819.1_Missense_Mutation_p.L582F|NLRP2_ENST00000391721.4_Missense_Mutation_p.L582F|NLRP2_ENST00000427260.2_Missense_Mutation_p.L583F|NLRP2_ENST00000448584.2_Missense_Mutation_p.L606F|NLRP2_ENST00000339757.7_Missense_Mutation_p.L584F|NLRP2_ENST00000263437.6_Missense_Mutation_p.L603F|NLRP2_ENST00000537859.1_Missense_Mutation_p.L584F	p.L606F	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1959	+			606					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1816C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	6.013	0.370786	0.11409	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	1.94	-3.88	0.04205	.	1.447910	0.05545	N	0.566398	T	0.35248	0.0925	L	0.35793	1.09	0.09310	N	1	P;B;B;B;B	0.41475	0.751;0.375;0.413;0.375;0.413	P;B;B;B;B	0.49301	0.606;0.338;0.294;0.338;0.294	T	0.29027	-1.0025	10	0.02654	T	1	.	0.3227	0.00306	0.225:0.2968:0.1868:0.2914	.	583;584;603;582;606	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	F	606;582;584;606;584;583;582;603	ENSP00000445135:L606F;ENSP00000375601:L582F;ENSP00000344074:L584F;ENSP00000409370:L606F;ENSP00000440601:L584F;ENSP00000402474:L583F;ENSP00000441133:L582F;ENSP00000263437:L603F	ENSP00000263437:L603F	L	+	1	0	NLRP2	60186694	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.353000	0.20130	-1.450000	0.01936	-1.036000	0.02392	CTC		0.517	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		31	39	0	0	0	1	0	31	39				
ALG14	199857	broad.mit.edu	37	1	95492780	95492780	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:95492780G>A	ENST00000370205.5	-	3	371	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W		NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	109					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TGAACCTCCCGGCTTCTTGGA	0.453																																						ENST00000370205.4																			0				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6						c.(325-327)Cgg>Tgg		ALG14, UDP-N-acetylglucosaminyltransferase subunit							75.0	74.0	75.0					1																	95492780		2203	4300	6503	SO:0001583	missense	199857				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chr1:95492780G>A		CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"""asparagine-linked glycosylation 14 homolog (yeast)"", ""asparagine-linked glycosylation 14 homolog (S. cerevisiae)"""			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.325C>T	1.37:g.95492780G>A	ENSP00000359224:p.Arg109Trp						p.R109W	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN		all cancers(265;0.0615)|Epithelial(280;0.139)	3	371	-		all_lung(203;0.0232)|Lung NSC(277;0.0739)	109					A8K030	Missense_Mutation	SNP	ENST00000370205.5	37	c.325C>T	CCDS752.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537061	0.85812	.	.	ENSG00000172339	ENST00000370205	T	0.79653	-1.29	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.92535	0.7629	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94137	0.7393	9	.	.	.	-17.128	16.8403	0.85967	0.0:0.0:1.0:0.0	.	109	Q96F25	ALG14_HUMAN	W	109	ENSP00000359224:R109W	.	R	-	1	2	ALG14	95265368	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.144000	0.71762	2.789000	0.95967	0.655000	0.94253	CGG		0.453	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029699.2	NM_144988		31	57	0	0	0	1	0	31	57				
ALPK3	57538	broad.mit.edu	37	15	85382932	85382932	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85382932G>A	ENST00000258888.5	+	5	1195		c.e5-1			NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3						heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTACCTCTAGGTGTCGAGAA	0.647																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.e5-1		alpha-kinase 3							71.0	66.0	68.0					15																	85382932		2203	4299	6502	SO:0001630	splice_region_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85382932G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1029-1G>A	15.37:g.85382932G>A								NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	1195	+								Q9P2L6	Splice_Site	SNP	ENST00000258888.5	37		CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914330	0.52546	.	.	ENSG00000136383	ENST00000258888	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6289	0.76885	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALPK3	83183936	1.000000	0.71417	0.995000	0.50966	0.459000	0.32528	8.771000	0.91751	2.265000	0.75225	0.655000	0.94253	.		0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	Intron	53	103	0	0	0	1	0	53	103				
PSG8	440533	broad.mit.edu	37	19	43259265	43259265	+	Missense_Mutation	SNP	C	C	T	rs113087470		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:43259265C>T	ENST00000306511.4	-	4	960	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.R195Q|PSG8_ENST00000404209.4_Missense_Mutation_p.R288Q|PSG8_ENST00000406636.3_Missense_Mutation_p.R166Q	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	288	Ig-like C2-type 2.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCAATGGGTCGCTTTACCCT	0.468																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(862-864)cGa>cAa		pregnancy specific beta-1-glycoprotein 8							77.0	83.0	81.0					19																	43259265		2203	4279	6482	SO:0001583	missense	0					extracellular region		g.chr19:43259265C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.863G>A	19.37:g.43259265C>T	ENSP00000305005:p.Arg288Gln					PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.R166Q|PSG8_ENST00000401467.2_Missense_Mutation_p.R195Q|PSG8_ENST00000306511.4_Missense_Mutation_p.R288Q	p.R288Q	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			4	959	-		Prostate(69;0.00899)	288			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.863G>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	0.288	-0.981735	0.02197	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	1.38	-2.76	0.05896	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02888	0.0086	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B;B	0.32507	0.024;0.132;0.027;0.373;0.005;0.006	B;B;B;B;B;B	0.28784	0.014;0.069;0.007;0.094;0.006;0.01	T	0.32375	-0.9909	9	0.23302	T	0.38	.	3.1578	0.06510	0.3071:0.4435:0.0:0.2494	.	166;195;288;195;288;288	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	Q	288;166;195;100;195;288	ENSP00000385869:R288Q;ENSP00000385081:R166Q;ENSP00000386090:R195Q;ENSP00000305005:R288Q	ENSP00000305005:R288Q	R	-	2	0	PSG8	47951105	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.111000	0.15458	-2.408000	0.00573	-2.164000	0.00325	CGA		0.468	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			63	213	0	0	0	1	0	63	213				
RPUSD1	113000	broad.mit.edu	37	16	836114	836114	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:836114C>T	ENST00000561734.1	-	5	1018	c.775G>A	c.(775-777)Gac>Aac	p.D259N	RPUSD1_ENST00000567114.1_Missense_Mutation_p.D130N|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.D259N|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000455171.2_5'Flank|MSLNL_ENST00000442466.1_5'Flank|RPUSD1_ENST00000565809.1_3'UTR			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	259	Pro-rich.				pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGGTCAGGGTCGGGGGTGGCC	0.726																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(775-777)Gac>Aac		RNA pseudouridylate synthase domain containing 1							19.0	25.0	23.0					16																	836114		2188	4284	6472	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836114C>T	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.775G>A	16.37:g.836114C>T	ENSP00000455026:p.Asp259Asn					RPUSD1_ENST00000007264.2_Missense_Mutation_p.D259N|RPUSD1_ENST00000567114.1_Missense_Mutation_p.D130N|RPUSD1_ENST00000565809.1_3'UTR	p.D259N			Q9UJJ7	RUSD1_HUMAN			5	1018	-		Hepatocellular(780;0.00335)	259			Pro-rich.		D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.775G>A	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887989	0.33348	.	.	ENSG00000007376	ENST00000007264	T	0.17528	2.27	4.21	4.21	0.49690	.	0.694522	0.14725	N	0.302106	T	0.12518	0.0304	L	0.44542	1.39	0.19300	N	0.999973	P	0.47253	0.892	B	0.30316	0.114	T	0.17653	-1.0362	10	0.54805	T	0.06	-39.2218	12.1355	0.53968	0.0:1.0:0.0:0.0	.	259	Q9UJJ7	RUSD1_HUMAN	N	259	ENSP00000007264:D259N	ENSP00000007264:D259N	D	-	1	0	RPUSD1	776115	0.704000	0.27836	0.895000	0.35142	0.147000	0.21601	0.978000	0.29488	1.920000	0.55613	0.456000	0.33151	GAC		0.726	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		51	38	0	0	0	1	0	51	38				
TMEM14C	51522	broad.mit.edu	37	6	10725225	10725225	+	Missense_Mutation	SNP	G	G	A	rs202030847		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:10725225G>A	ENST00000541412.1	+	3	437	c.52G>A	c.(52-54)Gca>Aca	p.A18T	TMEM14C_ENST00000467415.1_3'UTR|TMEM14C_ENST00000229563.5_Missense_Mutation_p.A18T	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	transmembrane protein 14C	18					heme biosynthetic process (GO:0006783)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			CTTTGGCTACGCAGCACTGGT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		22668	0.0		0.001	False		,,,				2504	0.0					ENST00000541412.1																			0				large_intestine(2)|lung(3)	5						c.(52-54)Gca>Aca		transmembrane protein 14C		G	THR/ALA,THR/ALA	0,4406		0,0,2203	471.0	433.0	446.0		52,52	3.7	1.0	6		446	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TMEM14C	NM_001165258.1,NM_016462.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	18/113,18/113	10725225	1,13005	2203	4300	6503	SO:0001583	missense	51522				heme biosynthetic process	integral to membrane|mitochondrial membrane		g.chr6:10725225G>A	AF151028	CCDS4514.1	6p24.1	2008-02-26	2004-04-16	2004-04-21	ENSG00000111843	ENSG00000111843			20952	protein-coding gene	gene with protein product		615318	"""chromosome 6 open reading frame 53"""	C6orf53		11042152, 12958361	Standard	NM_016462		Approved	HSPC194, bA421M1.6, NET26	uc021ylj.1	Q9P0S9	OTTHUMG00000014242	ENST00000541412.1:c.52G>A	6.37:g.10725225G>A	ENSP00000444561:p.Ala18Thr					TMEM14C_ENST00000467415.1_3'UTR|TMEM14C_ENST00000229563.5_Missense_Mutation_p.A18T	p.A18T	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	Epithelial(50;0.246)		3	437	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	18					Q5T4I6	Missense_Mutation	SNP	ENST00000541412.1	37	c.52G>A	CCDS4514.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.6	4.014204	0.75161	0.0	1.16E-4	ENSG00000111843	ENST00000541412;ENST00000342277;ENST00000229563	T;T	0.54071	0.59;0.59	3.74	3.74	0.42951	.	0.055841	0.64402	D	0.000001	T	0.43389	0.1245	M	0.62723	1.935	0.80722	D	1	P;P	0.45672	0.864;0.864	P;P	0.45232	0.474;0.474	T	0.49495	-0.8934	10	0.48119	T	0.1	.	14.3071	0.66391	0.0:0.0:1.0:0.0	.	18;18	Q53F27;Q9P0S9	.;TM14C_HUMAN	T	18	ENSP00000444561:A18T;ENSP00000229563:A18T	ENSP00000229563:A18T	A	+	1	0	TMEM14C	10833211	1.000000	0.71417	0.977000	0.42913	0.900000	0.52787	7.978000	0.88095	1.636000	0.50526	0.462000	0.41574	GCA		0.448	TMEM14C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039829.1	NM_016462		87	278	0	0	0	1	0	87	278				
KDM4C	23081	broad.mit.edu	37	9	6990511	6990511	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:6990511G>A	ENST00000381309.3	+	12	2338	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A	KDM4C_ENST00000381306.3_Silent_p.A591A|KDM4C_ENST00000543771.1_Silent_p.A591A|KDM4C_ENST00000536108.1_Silent_p.A410A|KDM4C_ENST00000535193.1_Silent_p.A613A|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Silent_p.A278A	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGCAGCAGGCGCCAAGTGATG	0.408																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1771-1773)gcG>gcA		lysine (K)-specific demethylase 4C							53.0	44.0	47.0					9																	6990511		2203	4300	6503	SO:0001819	synonymous_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6990511G>A	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1773G>A	9.37:g.6990511G>A						KDM4C_ENST00000381306.3_Silent_p.A591A|KDM4C_ENST00000428870.2_Silent_p.A278A|KDM4C_ENST00000536108.1_Silent_p.A410A|KDM4C_ENST00000543771.1_Silent_p.A591A|KDM4C_ENST00000535193.1_Silent_p.A613A|KDM4C_ENST00000442236.2_Intron	p.A591A	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			12	2338	+			591					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.1773G>A	CCDS6471.1																																																																																				0.408	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		5	31	0	0	0	1	0	5	31				
RUNX1T1	862	broad.mit.edu	37	8	92972726	92972726	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:92972726C>T	ENST00000523629.1	-	12	2013	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R531H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R493H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R483H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R520H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R493H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R483H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R483H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	520					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R483H(2)|p.R520H(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTCGCTTTACGGCCACAATT	0.458																																						ENST00000523629.1																			4	Substitution - Missense(4)	p.R483H(2)|p.R520H(2)	lung(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1558-1560)cGt>cAt		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							60.0	58.0	59.0					8																	92972726		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972726C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1559G>A	8.37:g.92972726C>T	ENSP00000428543:p.Arg520His					RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R493H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R483H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R483H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R483H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R531H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R493H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R520H	p.R520H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		12	2013	-			520					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1559G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670730	0.88348	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	6.06	6.06	0.98353	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.998	T	0.72171	-0.4371	10	0.87932	D	0	-12.6099	20.6208	0.99490	0.0:1.0:0.0:0.0	.	531;483;520;493	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	H	520;493;520;483;483;483;531;493	ENSP00000428543:R520H;ENSP00000379520:R493H;ENSP00000265814:R520H;ENSP00000353504:R483H;ENSP00000390137:R483H;ENSP00000428742:R483H;ENSP00000402257:R531H;ENSP00000430728:R493H	ENSP00000265814:R520H	R	-	2	0	RUNX1T1	93041902	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CGT		0.458	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		23	39	0	0	0	1	0	23	39				
ZNF516	9658	broad.mit.edu	37	18	74153957	74153957	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:74153957C>T	ENST00000443185.2	-	3	1371	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCATTGTGGGCGTTCAAGCTG	0.657																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1054-1056)Gcc>Acc		zinc finger protein 516							31.0	36.0	34.0					18																	74153957		2137	4249	6386	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153957C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1054G>A	18.37:g.74153957C>T	ENSP00000394757:p.Ala352Thr					ZNF516_ENST00000524431.2_5'UTR	p.A352T	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	1371	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	352						Missense_Mutation	SNP	ENST00000443185.2	37	c.1054G>A		.	.	.	.	.	.	.	.	.	.	C	22.9	4.344934	0.82022	.	.	ENSG00000101493	ENST00000443185	T	0.27890	1.64	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.073964	0.53938	D	0.000058	T	0.41766	0.1173	.	.	.	0.42321	D	0.992259	D	0.69078	0.997	P	0.51415	0.669	T	0.16867	-1.0388	9	0.33940	T	0.23	-4.5427	18.4339	0.90636	0.0:1.0:0.0:0.0	.	352	Q92618	ZN516_HUMAN	T	352	ENSP00000394757:A352T	ENSP00000394757:A352T	A	-	1	0	ZNF516	72282945	0.776000	0.28616	0.995000	0.50966	0.956000	0.61745	2.968000	0.49224	2.583000	0.87209	0.655000	0.94253	GCC		0.657	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		22	13	0	0	0	1	0	22	13				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	33	0	0	0	1	0	3	33				
PLAGL2	5326	broad.mit.edu	37	20	30789887	30789887	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:30789887C>T	ENST00000246229.4	-	2	359	c.95G>A	c.(94-96)cGg>cAg	p.R32Q		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	32					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCCGCCTCCCGGCCCCGAGG	0.567																																					Colon(163;15 1893 11280 16306 47518)	ENST00000246229.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(94-96)cGg>cAg		pleiomorphic adenoma gene-like 2							73.0	74.0	74.0					20																	30789887		2203	4298	6501	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30789887C>T		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.95G>A	20.37:g.30789887C>T	ENSP00000246229:p.Arg32Gln						p.R32Q	NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	359	-			32					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.95G>A	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619522	0.66787	.	.	ENSG00000126003	ENST00000246229	T	0.08807	3.05	4.55	4.55	0.56014	.	0.247205	0.33610	N	0.004726	T	0.07143	0.0181	L	0.42632	1.34	0.44985	D	0.998009	B	0.32731	0.382	B	0.20384	0.029	T	0.15492	-1.0435	10	0.52906	T	0.07	.	9.6313	0.39780	0.0:0.8953:0.0:0.1047	.	32	Q9UPG8	PLAL2_HUMAN	Q	32	ENSP00000246229:R32Q	ENSP00000246229:R32Q	R	-	2	0	PLAGL2	30253548	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.789000	0.55454	2.334000	0.79466	0.563000	0.77884	CGG		0.567	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		30	111	0	0	0	1	0	30	111				
PTPRC	5788	broad.mit.edu	37	1	198671623	198671623	+	Missense_Mutation	SNP	C	C	T	rs561155698		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:198671623C>T	ENST00000367376.2	+	6	712	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.R183C|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	181					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTTACCTGCACGCACCTCCAA	0.498																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(541-543)Cgc>Tgc		protein tyrosine phosphatase, receptor type, C							381.0	305.0	331.0					1																	198671623		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198671623C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.541C>T	1.37:g.198671623C>T	ENSP00000356346:p.Arg181Cys					PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.R183C|PTPRC_ENST00000352140.3_Intron	p.R181C	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			6	712	+			181					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.541C>T		.	.	.	.	.	.	.	.	.	.	C	17.54	3.414662	0.62511	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000271610;ENST00000442510;ENST00000367367	.	.	.	5.84	4.93	0.64822	.	0.871707	0.09802	N	0.754012	T	0.70631	0.3246	M	0.62723	1.935	0.80722	D	1	D;P;D	0.89917	1.0;0.812;0.997	P;B;P	0.60682	0.878;0.093;0.642	T	0.65429	-0.6170	9	0.72032	D	0.01	.	10.6509	0.45647	0.0:0.9125:0.0:0.0875	.	117;222;181	F5GXZ3;Q6Q1P2;P08575	.;.;PTPRC_HUMAN	C	183;117;222;181;115	.	ENSP00000271610:R222C	R	+	1	0	PTPRC	196938246	0.580000	0.26733	0.494000	0.27515	0.675000	0.39556	2.145000	0.42207	1.471000	0.48121	0.650000	0.86243	CGC		0.498	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				125	247	0	0	0	1	0	125	247				
ZNF841	284371	broad.mit.edu	37	19	52569526	52569526	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:52569526C>T	ENST00000426391.2	-	5	1812	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.G537R|ZNF841_ENST00000389534.4_Missense_Mutation_p.G537R|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GGTTTCTCTCCGGTATGAATT	0.398																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(1609-1611)Gga>Aga		zinc finger protein 841							84.0	79.0	80.0					19																	52569526		692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52569526C>T	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1261G>A	19.37:g.52569526C>T	ENSP00000415453:p.Gly421Arg					ZNF841_ENST00000426391.2_Missense_Mutation_p.G421R|ZNF841_ENST00000594295.1_Missense_Mutation_p.G537R|ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron	p.G537R	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			7	2068	-			421					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.1609G>A		.	.	.	.	.	.	.	.	.	.	C	19.43	3.825830	0.71143	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	T;T	0.26223	1.75;4.72	1.85	1.85	0.25348	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40498	0.1119	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.29549	-1.0008	9	0.66056	D	0.02	.	9.3548	0.38159	0.0:1.0:0.0:0.0	.	537;421	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	R	537;421	ENSP00000374185:G537R;ENSP00000415453:G421R	ENSP00000374185:G537R	G	-	1	0	ZNF841	57261338	0.000000	0.05858	0.262000	0.24481	0.796000	0.44982	0.845000	0.27668	1.350000	0.45770	0.313000	0.20887	GGA		0.398	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		10	25	0	0	0	1	0	10	25				
MAGEB6	158809	broad.mit.edu	37	X	26212350	26212350	+	Silent	SNP	C	C	T	rs183964860		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:26212350C>T	ENST00000379034.1	+	2	536	c.387C>T	c.(385-387)aaC>aaT	p.N129N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	129	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGGCTGCCAACGGCCAAGATG	0.557																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(385-387)aaC>aaT		melanoma antigen family B, 6							86.0	78.0	81.0					X																	26212350		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212350C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.387C>T	X.37:g.26212350C>T							p.N129N	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	536	+			129			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.387C>T	CCDS14217.1																																																																																				0.557	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		78	18	0	0	0	1	0	78	18				
PFAS	5198	broad.mit.edu	37	17	8167651	8167651	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:8167651G>A	ENST00000314666.6	+	16	2046	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q	PFAS_ENST00000545834.1_Missense_Mutation_p.R214Q	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	638					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	AAGATGCCTCGGAAGGTATGT	0.622																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(1912-1914)cGg>cAg		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						38.0	41.0	40.0					17																	8167651		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8167651G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1913G>A	17.37:g.8167651G>A	ENSP00000313490:p.Arg638Gln					PFAS_ENST00000545834.1_Missense_Mutation_p.R214Q	p.R638Q	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			16	2046	+			638					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1913G>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	4.057	0.008330	0.07912	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.29655	1.56;1.56	5.75	-4.33	0.03677	AIR synthase-related protein, C-terminal (1);	0.431426	0.25494	N	0.030292	T	0.16514	0.0397	N	0.20574	0.59	0.32367	N	0.556407	B;B	0.10296	0.003;0.003	B;B	0.08055	0.002;0.003	T	0.04017	-1.0984	10	0.46703	T	0.11	-3.2748	12.2926	0.54827	0.5756:0.0:0.4244:0.0	.	214;638	F5GWT9;O15067	.;PUR4_HUMAN	Q	214;638;47	ENSP00000441706:R214Q;ENSP00000313490:R638Q	ENSP00000313490:R638Q	R	+	2	0	PFAS	8108376	0.002000	0.14202	0.964000	0.40570	0.192000	0.23643	-0.001000	0.12947	-0.772000	0.04602	-0.253000	0.11424	CGG		0.622	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			48	11	0	0	0	1	0	48	11				
PARP10	84875	broad.mit.edu	37	8	145058234	145058234	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:145058234G>A	ENST00000313028.7	-	7	1813	c.1719C>T	c.(1717-1719)aaC>aaT	p.N573N	PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000524918.1_Silent_p.N573N|PARP10_ENST00000525773.1_Silent_p.N585N	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	573					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTGTGGGCGTTGCCAGGGA	0.662																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1717-1719)aaC>aaT		poly (ADP-ribose) polymerase family, member 10							54.0	59.0	57.0					8																	145058234		2203	4300	6503	SO:0001819	synonymous_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145058234G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1719C>T	8.37:g.145058234G>A						PARP10_ENST00000524918.1_Silent_p.N573N|PARP10_ENST00000525773.1_Silent_p.N585N	p.N573N	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1813	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		573					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.1719C>T	CCDS34960.1																																																																																				0.662	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		13	37	0	0	0	1	0	13	37				
PI4KA	5297	broad.mit.edu	37	22	21082106	21082106	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:21082106G>A	ENST00000572273.1	-	40	4785	c.4555C>T	c.(4555-4557)Cgg>Tgg	p.R1519W	PI4KA_ENST00000255882.6_Missense_Mutation_p.R1577W|AC007308.6_ENST00000430719.1_RNA|PI4KA_ENST00000414196.3_Missense_Mutation_p.R329W			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1519	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGGTCCAACCGAACGAGACGG	0.547																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(4729-4731)Cgg>Tgg		phosphatidylinositol 4-kinase, catalytic, alpha							133.0	103.0	113.0					22																	21082106		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21082106G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4555C>T	22.37:g.21082106G>A	ENSP00000458238:p.Arg1519Trp					PI4KA_ENST00000572273.1_Missense_Mutation_p.R1519W|PI4KA_ENST00000414196.3_Missense_Mutation_p.R329W	p.R1577W	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		40	4815	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1519					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.4729C>T		.	.	.	.	.	.	.	.	.	.	G	26.4	4.734315	0.89482	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.57907	0.37	5.23	5.23	0.72850	Phosphoinositide 3-kinase, accessory (PIK) domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	M	0.73962	2.25	0.80722	D	1	D	0.61697	0.99	P	0.59761	0.863	T	0.70077	-0.4971	10	0.56958	D	0.05	-27.0598	13.9127	0.63878	0.0:0.0:0.848:0.152	.	1519	P42356	PI4KA_HUMAN	W	1519;329	ENSP00000402981:R329W	ENSP00000255882:R1519W	R	-	1	2	PI4KA	19412106	1.000000	0.71417	0.986000	0.45419	0.958000	0.62258	4.472000	0.60189	2.728000	0.93425	0.655000	0.94253	CGG		0.547	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		46	77	0	0	0	1	0	46	77				
RTP5	285093	broad.mit.edu	37	2	242815361	242815361	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242815361G>A	ENST00000343216.3	+	2	1682	c.1654G>A	c.(1654-1656)Gtg>Atg	p.V552M		NM_173821.2	NP_776182.2																					GTCCATGACCGTGTGCGTCTT	0.662																																						ENST00000343216.3																			0											c.(1654-1656)Gtg>Atg		CXXC finger protein 11							107.0	118.0	115.0					2																	242815361		2097	4192	6289	SO:0001583	missense	285093					integral to membrane		g.chr2:242815361G>A																												ENST00000343216.3:c.1654G>A	2.37:g.242815361G>A	ENSP00000345374:p.Val552Met						p.V552M	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	1682	+			552						Missense_Mutation	SNP	ENST00000343216.3	37	c.1654G>A	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	17.02	3.281861	0.59758	.	.	ENSG00000188011	ENST00000343216	T	0.26660	1.72	2.12	-1.92	0.07618	.	.	.	.	.	T	0.23572	0.0570	N	0.14661	0.345	0.09310	N	1	D	0.89917	1.0	D	0.66497	0.944	T	0.13522	-1.0506	9	0.87932	D	0	-26.1932	2.3043	0.04170	0.4349:0.0:0.3289:0.2362	.	552	Q14D33	CB085_HUMAN	M	552	ENSP00000345374:V552M	ENSP00000345374:V552M	V	+	1	0	C2orf85	242464034	0.000000	0.05858	0.001000	0.08648	0.869000	0.49853	0.109000	0.15417	-0.532000	0.06332	0.186000	0.17326	GTG		0.662	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			101	214	0	0	0	1	0	101	214				
C14orf37	145407	broad.mit.edu	37	14	58605364	58605364	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:58605364C>T	ENST00000267485.7	-	2	907	c.713G>A	c.(712-714)gGt>gAt	p.G238D	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	238						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGACTCAGCACCAGGAAAAGA	0.498																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(712-714)gGt>gAt		chromosome 14 open reading frame 37							106.0	91.0	96.0					14																	58605364		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605364C>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.713G>A	14.37:g.58605364C>T	ENSP00000267485:p.Gly238Asp					C14orf37_ENST00000334342.5_5'UTR	p.G238D	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	907	-			238					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.713G>A	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	0.439	-0.899526	0.02472	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.24350	1.86	5.45	1.18	0.20946	.	0.993560	0.08183	N	0.985144	T	0.11623	0.0283	N	0.17474	0.49	0.09310	N	1	B;B;B;B	0.15473	0.001;0.013;0.001;0.001	B;B;B;B	0.16722	0.006;0.016;0.006;0.006	T	0.36962	-0.9726	10	0.07325	T	0.83	-5.0E-4	1.9858	0.03436	0.1527:0.4133:0.2673:0.1666	.	276;238;238;238	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	D	238;276	ENSP00000267485:G238D	ENSP00000267485:G238D	G	-	2	0	C14orf37	57675117	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.030000	0.12308	0.393000	0.25203	-0.137000	0.14449	GGT		0.498	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		57	32	0	0	0	1	0	57	32				
C6	729	broad.mit.edu	37	5	41159281	41159281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:41159281G>A	ENST00000263413.3	-	12	2023	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	C6_ENST00000337836.5_Nonsense_Mutation_p.R587*|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	587	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGCATTCTCGGGTTCTCGAT	0.493																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1759-1761)Cga>Tga		complement component 6							100.0	105.0	103.0					5																	41159281		2203	4300	6503	SO:0001587	stop_gained	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159281G>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1759C>T	5.37:g.41159281G>A	ENSP00000263413:p.Arg587*					C6_ENST00000337836.5_Nonsense_Mutation_p.R587*	p.R587*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			12	2023	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	587			TSP type-1 3.			Nonsense_Mutation	SNP	ENST00000263413.3	37	c.1759C>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	37	6.524488	0.97637	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.53	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5176	13.4668	0.61258	0.0:0.0:0.7152:0.2848	.	.	.	.	X	587	.	ENSP00000263413:R587X	R	-	1	2	C6	41195038	1.000000	0.71417	0.895000	0.35142	0.041000	0.13682	2.721000	0.47260	1.531000	0.49152	0.650000	0.86243	CGA		0.493	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			58	80	0	0	0	1	0	58	80				
CRB2	286204	broad.mit.edu	37	9	126128637	126128637	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:126128637G>T	ENST00000373631.3	+	4	747	c.746G>T	c.(745-747)tGt>tTt	p.C249F	CRB2_ENST00000373629.2_5'Flank|CRB2_ENST00000359999.3_Missense_Mutation_p.C249F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	249	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCTGCCTCTGTTGGCCAGGT	0.736																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(745-747)tGt>tTt		crumbs homolog 2 (Drosophila)							11.0	14.0	13.0					9																	126128637		2186	4275	6461	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126128637G>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.746G>T	9.37:g.126128637G>T	ENSP00000362734:p.Cys249Phe					CRB2_ENST00000359999.3_Missense_Mutation_p.C249F	p.C249F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			4	747	+			249			EGF-like 5.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.746G>T	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883349	0.91740	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.99992	-12.4;-12.4	5.03	5.03	0.67393	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.51477	D	0.000088	D	0.99994	0.9999	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.99990	1.4008	10	0.87932	D	0	.	15.8595	0.79012	0.0:0.0:1.0:0.0	.	249;249	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	F	249	ENSP00000353092:C249F;ENSP00000362734:C249F	ENSP00000353092:C249F	C	+	2	0	CRB2	125168458	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.154000	0.77437	2.332000	0.79248	0.448000	0.29417	TGT		0.736	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		13	23	1	0	4.7546e-09	1	4.85322e-09	13	23				
NDE1	54820	broad.mit.edu	37	16	15758701	15758701	+	Silent	SNP	G	G	A	rs143820142	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15758701G>A	ENST00000396353.2	+	3	892	c.66G>A	c.(64-66)gcG>gcA	p.A22A	NDE1_ENST00000396355.1_Silent_p.A22A|NDE1_ENST00000342673.5_Silent_p.A22A|NDE1_ENST00000396354.1_Silent_p.A22A			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	22	Self-association. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAGATCTGGCGATGACCTACA	0.473																																						ENST00000396355.1																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(64-66)gcG>gcA		nudE neurodevelopment protein 1		G	,	2,4392	4.2+/-10.8	0,2,2195	116.0	114.0	115.0		66,66	-10.3	0.1	16	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NDE1	NM_001143979.1,NM_017668.2	,	0,2,6495	AA,AG,GG		0.0,0.0455,0.0154	,	22/336,22/336	15758701	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	54820				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	g.chr16:15758701G>A	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.66G>A	16.37:g.15758701G>A						NDE1_ENST00000396354.1_Silent_p.A22A|NDE1_ENST00000396353.2_Silent_p.A22A|NDE1_ENST00000342673.5_Silent_p.A22A	p.A22A	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN			3	892	+			22			Self-association (By similarity).		Q49AQ2	Silent	SNP	ENST00000396353.2	37	c.66G>A																																																																																					0.473	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		90	80	0	0	0	1	0	90	80				
CDH15	1013	broad.mit.edu	37	16	89256813	89256813	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89256813C>T	ENST00000289746.2	+	8	1206	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	381	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GAACCCACTTCGGACCAGCCT	0.687																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1141-1143)Cgg>Tgg		cadherin 15, type 1, M-cadherin (myotubule)							31.0	31.0	31.0					16																	89256813		2196	4298	6494	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89256813C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1141C>T	16.37:g.89256813C>T	ENSP00000289746:p.Arg381Trp						p.R381W	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	8	1206	+			381			Cadherin 4.			Missense_Mutation	SNP	ENST00000289746.2	37	c.1141C>T	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080648	0.36758	.	.	ENSG00000129910	ENST00000289746	T	0.61627	0.09	4.37	1.02	0.19986	Cadherin (2);Cadherin-like (1);	0.332761	0.20912	U	0.083451	T	0.69324	0.3098	M	0.77103	2.36	0.09310	N	0.999999	D	0.89917	1.0	D	0.66351	0.943	T	0.59495	-0.7444	10	0.39692	T	0.17	.	8.5349	0.33357	0.5745:0.2912:0.1342:0.0	.	381	P55291	CAD15_HUMAN	W	381	ENSP00000289746:R381W	ENSP00000289746:R381W	R	+	1	2	CDH15	87784314	0.000000	0.05858	0.983000	0.44433	0.518000	0.34316	-1.255000	0.02872	-0.061000	0.13110	0.555000	0.69702	CGG		0.687	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		6	27	0	0	0	1	0	6	27				
TEP1	7011	broad.mit.edu	37	14	20846220	20846220	+	Missense_Mutation	SNP	G	G	A	rs553923395		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:20846220G>A	ENST00000262715.5	-	39	5724	c.5684C>T	c.(5683-5685)gCg>gTg	p.A1895V	TEP1_ENST00000556935.1_Missense_Mutation_p.A1787V|TEP1_ENST00000545983.1_Missense_Mutation_p.A233V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1895					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGGCAACCCGCATGCAGGAA	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18555	0.0		0.0	False		,,,				2504	0.0					ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5683-5685)gCg>gTg		telomerase-associated protein 1							82.0	81.0	82.0					14																	20846220		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20846220G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5684C>T	14.37:g.20846220G>A	ENSP00000262715:p.Ala1895Val					TEP1_ENST00000556935.1_Missense_Mutation_p.A1787V|TEP1_ENST00000545983.1_Missense_Mutation_p.A233V	p.A1895V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	39	5724	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1895					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5684C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682249	0.29872	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.51071	0.72;1.6;1.6	5.48	2.64	0.31445	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.670270	0.15490	N	0.259618	T	0.45677	0.1354	L	0.54323	1.7	0.09310	N	1	P;P;D;P	0.56035	0.753;0.89;0.974;0.91	B;B;P;B	0.47251	0.27;0.299;0.542;0.424	T	0.29971	-0.9994	10	0.49607	T	0.09	-2.5231	7.6231	0.28197	0.0766:0.0:0.6329:0.2906	.	233;1787;1238;1895	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	V	1895;1895;1787;233	ENSP00000262715:A1895V;ENSP00000452574:A1787V;ENSP00000438849:A233V	ENSP00000262715:A1895V	A	-	2	0	TEP1	19916060	0.004000	0.15560	0.001000	0.08648	0.103000	0.19146	1.316000	0.33620	0.279000	0.22186	-1.214000	0.01621	GCG		0.592	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		91	34	0	0	0	1	0	91	34				
DSTYK	25778	broad.mit.edu	37	1	205138721	205138721	+	Silent	SNP	G	G	A	rs376327322		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205138721G>A	ENST00000367162.3	-	3	924	c.894C>T	c.(892-894)agC>agT	p.S298S	DSTYK_ENST00000367160.4_Silent_p.S298S|DSTYK_ENST00000367161.3_Silent_p.S298S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	298					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GTGATCTTTCGCTCTCCATTC	0.483																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(892-894)agC>agT		dual serine/threonine and tyrosine protein kinase		G	,	0,4406		0,0,2203	93.0	86.0	89.0		894,894	-0.7	0.2	1		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSTYK	NM_015375.2,NM_199462.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	298/930,298/885	205138721	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205138721G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.894C>T	1.37:g.205138721G>A						DSTYK_ENST00000367161.3_Silent_p.S298S|DSTYK_ENST00000367160.4_Silent_p.S298S	p.S298S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			3	924	-			298					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	c.894C>T	CCDS1451.1																																																																																				0.483	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		16	75	0	0	0	1	0	16	75				
SPTB	6710	broad.mit.edu	37	14	65253771	65253771	+	Missense_Mutation	SNP	G	G	A	rs138556050		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:65253771G>A	ENST00000389721.5	-	15	2944	c.2912C>T	c.(2911-2913)aCg>aTg	p.T971M	SPTB_ENST00000389720.3_Missense_Mutation_p.T971M|SPTB_ENST00000389722.3_Missense_Mutation_p.T971M|SPTB_ENST00000556626.1_Missense_Mutation_p.T971M|SPTB_ENST00000542895.1_Missense_Mutation_p.T971M	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	971					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.T971M(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTCTTGTCCGTGATCCACTT	0.592																																						ENST00000389722.3																			2	Substitution - Missense(2)	p.T971M(2)	large_intestine(1)|prostate(1)	breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(2911-2913)aCg>aTg		spectrin, beta, erythrocytic			MET/THR,MET/THR	0,4406		0,0,2203	78.0	74.0	75.0		2912,2912	-10.2	0.0	14	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPTB	NM_000347.5,NM_001024858.2	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	971/2138,971/2329	65253771	1,13005	2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253771G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2912C>T	14.37:g.65253771G>A	ENSP00000374371:p.Thr971Met					SPTB_ENST00000542895.1_Missense_Mutation_p.T971M|SPTB_ENST00000389721.5_Missense_Mutation_p.T971M|SPTB_ENST00000389720.3_Missense_Mutation_p.T971M|SPTB_ENST00000556626.1_Missense_Mutation_p.T971M	p.T971M	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	2965	-		all_lung(585;4.15e-09)	971					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.2912C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448583	0.26074	0.0	1.16E-4	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.09	-10.2	0.00374	.	2.016160	0.01971	N	0.044112	T	0.28732	0.0712	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.003;0.007	B;B	0.17098	0.017;0.01	T	0.16867	-1.0388	10	0.51188	T	0.08	.	2.5189	0.04675	0.2341:0.0899:0.3725:0.3035	.	971;975	P11277;Q59FP5	SPTB1_HUMAN;.	M	975;971;971;971;971;971	ENSP00000374372:T971M;ENSP00000451752:T971M;ENSP00000374371:T971M;ENSP00000443882:T971M;ENSP00000374370:T971M	ENSP00000374370:T971M	T	-	2	0	SPTB	64323524	0.000000	0.05858	0.000000	0.03702	0.943000	0.58893	-3.094000	0.00607	-2.916000	0.00306	-0.275000	0.10095	ACG		0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			42	10	0	0	0	1	0	42	10				
CHST15	51363	broad.mit.edu	37	10	125804256	125804256	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125804256G>A	ENST00000346248.5	-	3	1368	c.726C>T	c.(724-726)caC>caT	p.H242H	CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000435907.1_Silent_p.H242H|CHST15_ENST00000421115.1_Silent_p.H242H	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	242					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCCCGTGCGCGTGCGCCAGGT	0.662																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(724-726)caC>caT		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							89.0	79.0	82.0					10																	125804256		2203	4300	6503	SO:0001819	synonymous_variant	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125804256G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.726C>T	10.37:g.125804256G>A						CHST15_ENST00000421115.1_Silent_p.H242H|CHST15_ENST00000435907.1_Silent_p.H242H	p.H242H	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			3	1368	-			242					O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	c.726C>T	CCDS7638.1																																																																																				0.662	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		15	25	0	0	0	1	0	15	25				
DNAH17	8632	broad.mit.edu	37	17	76558007	76558007	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:76558007G>A	ENST00000585328.1	-	12	1749	c.1625C>T	c.(1624-1626)gCg>gTg	p.A542V	DNAH17_ENST00000389840.5_Missense_Mutation_p.A542V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	542	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATACCTGGGCGCCACCTCGGC	0.587																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1624-1626)gCg>gTg		dynein, axonemal, heavy chain 17							34.0	35.0	35.0					17																	76558007		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76558007G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1625C>T	17.37:g.76558007G>A	ENSP00000465516:p.Ala542Val					DNAH17_ENST00000585328.1_Missense_Mutation_p.A542V	p.A542V					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		12	1749	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1625C>T		.	.	.	.	.	.	.	.	.	.	G	9.115	1.007525	0.19199	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55588	0.51	5.01	3.91	0.45181	.	0.566586	0.14274	N	0.329982	T	0.23249	0.0562	N	0.02916	-0.46	0.21020	N	0.99981	B	0.06786	0.001	B	0.04013	0.001	T	0.22906	-1.0203	10	0.11485	T	0.65	.	6.2489	0.20835	0.7524:0.0:0.2476:0.0	.	244	Q9UFH2-4	.	V	542	ENSP00000374490:A542V	ENSP00000300671:A542V	A	-	2	0	DNAH17	74069602	0.107000	0.21998	1.000000	0.80357	0.758000	0.43043	1.569000	0.36428	0.755000	0.32990	-0.427000	0.05922	GCG		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		60	9	0	0	0	1	0	60	9				
PEX3	8504	broad.mit.edu	37	6	143793364	143793364	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:143793364G>A	ENST00000367591.4	+	8	709	c.646G>A	c.(646-648)Gtt>Att	p.V216I		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	216					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		CAGAAATCTCGTTGAGCAGCA	0.348																																						ENST00000367591.4																			0				endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18						c.(646-648)Gtt>Att		peroxisomal biogenesis factor 3							96.0	101.0	99.0					6																	143793364		2203	4300	6503	SO:0001583	missense	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143793364G>A	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.646G>A	6.37:g.143793364G>A	ENSP00000356563:p.Val216Ile						p.V216I	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	8	709	+			216					Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	c.646G>A	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080329	0.55753	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	T;T	0.42900	0.96;0.96	5.93	4.96	0.65561	.	0.232087	0.43110	D	0.000618	T	0.14787	0.0357	L	0.31578	0.945	0.54753	D	0.999989	B;B	0.27951	0.005;0.195	B;B	0.18561	0.009;0.022	T	0.03514	-1.1029	10	0.14252	T	0.57	-22.1175	13.5851	0.61926	0.1009:0.0:0.8991:0.0	.	216;216	B4DV31;P56589	.;PEX3_HUMAN	I	172;172;216	ENSP00000356564:V172I;ENSP00000356563:V216I	ENSP00000344195:V172I	V	+	1	0	PEX3	143835057	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.296000	0.51802	2.818000	0.97014	0.591000	0.81541	GTT		0.348	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			38	18	0	0	0	1	0	38	18				
NANOS1	340719	broad.mit.edu	37	10	120796752	120796752	+	IGR	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:120796752G>A	ENST00000425699.1	+	0	4627				EIF3A_ENST00000369144.3_Silent_p.D1266D|EIF3A_ENST00000541549.1_Silent_p.D1232D	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)						cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		TATCCCTATCGTCCCGGCGAC	0.547																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3796-3798)gaC>gaT		eukaryotic translation initiation factor 3, subunit A							144.0	126.0	132.0					10																	120796752		2203	4300	6503	SO:0001628	intergenic_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120796752G>A	AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141		10.37:g.120796752G>A						EIF3A_ENST00000541549.1_Silent_p.D1232D|EIF3A_ENST00000478852.1_Intron	p.D1266D	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	21	3925	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1266			Asp-rich.			Silent	SNP	ENST00000425699.1	37	c.3798C>T	CCDS7607.1																																																																																				0.547	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1			36	136	0	0	0	1	0	36	136				
OR5C1	392391	broad.mit.edu	37	9	125551233	125551233	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:125551233C>T	ENST00000373680.2	+	1	84	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GAACCTCACCCGGGCCGCGGT	0.582																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(22-24)Cgg>Tgg		olfactory receptor, family 5, subfamily C, member 1							67.0	71.0	69.0					9																	125551233		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551233C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.22C>T	9.37:g.125551233C>T	ENSP00000362784:p.Arg8Trp						p.R8W	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	84	+			8					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.22C>T	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	0.200	-1.045642	0.01997	.	.	ENSG00000148215	ENST00000373680	T	0.37058	1.22	5.04	-3.75	0.04372	.	2.047450	0.02690	N	0.110500	T	0.19927	0.0479	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07385	-1.0775	10	0.35671	T	0.21	.	1.4283	0.02328	0.1192:0.1871:0.2454:0.4483	.	8	Q8NGR4	OR5C1_HUMAN	W	8	ENSP00000362784:R8W	ENSP00000362784:R8W	R	+	1	2	OR5C1	124591054	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-2.478000	0.00984	-0.929000	0.03757	-4.077000	0.00012	CGG		0.582	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			30	139	0	0	0	1	0	30	139				
IGHG4	3503	broad.mit.edu	37	14	106092382	106092382	+	RNA	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:106092382C>T	ENST00000390543.2	-	0	21							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										AGGGGGAAGACCGATGGGCCC	0.672																																						ENST00000390543.2																			0																				31.0	21.0	24.0					14																	106092382		1978	4068	6046			0							g.chr14:106092382C>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106092382C>T														0	21	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.672	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		29	6	0	0	0	1	0	29	6				
GPR26	2849	broad.mit.edu	37	10	125426409	125426409	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125426409G>A	ENST00000284674.1	+	1	539	c.486G>A	c.(484-486)cgG>cgA	p.R162R		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	162					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCAGCCGGCGGCCAGACGAGC	0.682																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(484-486)cgG>cgA		G protein-coupled receptor 26							18.0	17.0	17.0					10																	125426409		2202	4296	6498	SO:0001819	synonymous_variant	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426409G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.486G>A	10.37:g.125426409G>A							p.R162R	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	539	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	162					Q2M2E2	Silent	SNP	ENST00000284674.1	37	c.486G>A	CCDS7636.1																																																																																				0.682	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			19	20	0	0	0	1	0	19	20				
IL18R1	8809	broad.mit.edu	37	2	103013337	103013337	+	Silent	SNP	C	C	T	rs367837052		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:103013337C>T	ENST00000409599.1	+	12	1973	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	IL18R1_ENST00000233957.1_Silent_p.S539S			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	539					immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTGTTCTTTCCGAGTCTTAAT	0.413																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1615-1617)tcC>tcT		interleukin 18 receptor 1		C		0,4404		0,0,2202	32.0	34.0	33.0		1617	-1.2	0.0	2		33	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IL18R1	NM_003855.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		539/542	103013337	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:103013337C>T	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1617C>T	2.37:g.103013337C>T						IL18R1_ENST00000233957.1_Silent_p.S539S	p.S539S			Q13478	IL18R_HUMAN			12	1973	+			539					B2R9Y5|Q52LC9	Silent	SNP	ENST00000409599.1	37	c.1617C>T	CCDS2060.1																																																																																				0.413	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		20	42	0	0	0	1	0	20	42				
FAM73A	374986	broad.mit.edu	37	1	78280851	78280851	+	Missense_Mutation	SNP	G	G	A	rs576373704		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:78280851G>A	ENST00000370791.3	+	7	862	c.830G>A	c.(829-831)cGt>cAt	p.R277H	FAM73A_ENST00000443751.2_Missense_Mutation_p.R239H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	277						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGAGCCTATCGTCTCCAAGAG	0.368																																						ENST00000370791.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(829-831)cGt>cAt		family with sequence similarity 73, member A							103.0	98.0	100.0					1																	78280851		2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78280851G>A		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.830G>A	1.37:g.78280851G>A	ENSP00000359827:p.Arg277His					FAM73A_ENST00000443751.2_Missense_Mutation_p.R239H	p.R277H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	7	862	+			277					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.830G>A	CCDS681.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530553	0.27387	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.23552	1.9;1.9	5.04	5.04	0.67666	.	0.172606	0.51477	D	0.000086	T	0.25717	0.0626	L	0.36672	1.1	0.58432	D	0.999998	D;D;D;D	0.69078	0.992;0.996;0.997;0.996	P;P;P;P	0.60886	0.809;0.88;0.804;0.88	T	0.01541	-1.1329	10	0.15952	T	0.53	-21.1548	18.7574	0.91837	0.0:0.0:1.0:0.0	.	239;277;277;277	F8W7S1;B7ZLZ8;Q8NAN2-2;Q8NAN2	.;.;.;FA73A_HUMAN	H	277;239	ENSP00000359827:R277H;ENSP00000393675:R239H	ENSP00000359827:R277H	R	+	2	0	FAM73A	78053439	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	8.400000	0.90200	2.501000	0.84356	0.655000	0.94253	CGT		0.368	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		9	66	0	0	0	1	0	9	66				
PCLO	27445	broad.mit.edu	37	7	82584436	82584436	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:82584436G>A	ENST00000333891.9	-	5	6170	c.5833C>T	c.(5833-5835)Cct>Tct	p.P1945S	PCLO_ENST00000423517.2_Missense_Mutation_p.P1945S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCATACAAAGGCTCTTTTTCA	0.373																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5833-5835)Cct>Tct		piccolo presynaptic cytomatrix protein							67.0	66.0	66.0					7																	82584436		1852	4087	5939	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584436G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5833C>T	7.37:g.82584436G>A	ENSP00000334319:p.Pro1945Ser					PCLO_ENST00000333891.8_Missense_Mutation_p.P1945S	p.P1945S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6170	-			1876						Missense_Mutation	SNP	ENST00000333891.9	37	c.5833C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.609	0.888766	0.17540	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.22;2.23	5.57	5.57	0.84162	.	.	.	.	.	T	0.20007	0.0481	L	0.27053	0.805	0.80722	D	1	P;P	0.41450	0.75;0.75	P;P	0.48089	0.566;0.566	T	0.00891	-1.1525	9	0.87932	D	0	.	13.2603	0.60101	0.0822:0.0:0.9178:0.0	.	1945;1945	Q9Y6V0-5;Q9Y6V0-6	.;.	S	1876;1945;1945	ENSP00000334319:P1945S;ENSP00000388393:P1945S	ENSP00000334319:P1945S	P	-	1	0	PCLO	82422372	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.732000	0.47352	2.619000	0.88677	0.655000	0.94253	CCT		0.373	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	67	0	0	0	1	0	13	67				
POLE	5426	broad.mit.edu	37	12	133214643	133214643	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133214643G>A	ENST00000320574.5	-	41	5678	c.5635C>T	c.(5635-5637)Cgt>Tgt	p.R1879C	POLE_ENST00000434528.3_5'UTR|POLE_ENST00000535270.1_Missense_Mutation_p.R1852C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1879					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCTTCCACACGGCGCTTCTTT	0.547								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(5635-5637)Cgt>Tgt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							171.0	138.0	149.0					12																	133214643		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133214643G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5635C>T	12.37:g.133214643G>A	ENSP00000322570:p.Arg1879Cys					POLE_ENST00000535270.1_Missense_Mutation_p.R1852C|POLE_ENST00000434528.3_5'UTR	p.R1879C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	41	5678	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1879					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.5635C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038116	0.75617	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.23348	1.91;1.91;1.91	5.68	4.78	0.61160	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.163608	0.53938	D	0.000051	T	0.47229	0.1434	M	0.68952	2.095	0.58432	D	0.999997	D;D	0.69078	0.984;0.997	P;P	0.62382	0.773;0.901	T	0.50197	-0.8856	10	0.59425	D	0.04	.	16.0688	0.80909	0.0:0.0:0.8649:0.1351	.	1879;89	Q07864;B3KS74	DPOE1_HUMAN;.	C	89;1879;1890;1852	ENSP00000322570:R1879C;ENSP00000406383:R1890C;ENSP00000445753:R1852C	ENSP00000322570:R1879C	R	-	1	0	POLE	131724716	0.912000	0.30974	0.893000	0.35052	0.729000	0.41735	2.378000	0.44309	1.394000	0.46624	0.655000	0.94253	CGT		0.547	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		21	129	0	0	0	1	0	21	129				
TRPV2	51393	broad.mit.edu	37	17	16336966	16336966	+	Missense_Mutation	SNP	G	G	A	rs543529432		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:16336966G>A	ENST00000338560.7	+	13	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	690					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATGCTGACCGTTGGCACTAA	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20748	0.0		0.0	False		,,,				2504	0.0					ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(2068-2070)Gtt>Att		transient receptor potential cation channel, subfamily V, member 2							140.0	121.0	127.0					17																	16336966		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16336966G>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2068G>A	17.37:g.16336966G>A	ENSP00000342222:p.Val690Ile					TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	p.V690I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	13	2467	+			690					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.2068G>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846704	0.32606	.	.	ENSG00000187688	ENST00000338560	D	0.90324	-2.65	5.79	5.79	0.91817	.	0.058083	0.64402	D	0.000002	D	0.86322	0.5905	L	0.32530	0.975	0.54753	D	0.999981	P	0.34815	0.47	B	0.33521	0.165	D	0.84716	0.0737	10	0.36615	T	0.2	-24.5954	17.5351	0.87827	0.0:0.0:1.0:0.0	.	690	Q9Y5S1	TRPV2_HUMAN	I	690	ENSP00000342222:V690I	ENSP00000342222:V690I	V	+	1	0	TRPV2	16277691	1.000000	0.71417	0.182000	0.23118	0.116000	0.19942	5.992000	0.70609	2.751000	0.94390	0.650000	0.86243	GTT		0.592	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		39	145	0	0	0	1	0	39	145				
RANBP2	5903	broad.mit.edu	37	2	109383056	109383056	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:109383056G>A	ENST00000283195.6	+	20	6187	c.6061G>A	c.(6061-6063)Gaa>Aaa	p.E2021K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2021	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCAAATGCCCGAAAAAGTAGA	0.388																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(6061-6063)Gaa>Aaa		RAN binding protein 2							162.0	190.0	181.0					2																	109383056		2201	4296	6497	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383056G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6061G>A	2.37:g.109383056G>A	ENSP00000283195:p.Glu2021Lys						p.E2021K	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	6187	+			2021			RanBD1 2.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.6061G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244874	0.79912	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.31247	1.5	5.75	5.75	0.90469	Pleckstrin homology-type (1);Ran binding protein 1 (2);	.	.	.	.	T	0.47229	0.1434	M	0.63843	1.955	0.48395	D	0.99964	D	0.71674	0.998	P	0.52793	0.709	T	0.35151	-0.9800	9	0.48119	T	0.1	-38.6669	19.9535	0.97211	0.0:0.0:1.0:0.0	.	2021	P49792	RBP2_HUMAN	K	1045;2021	ENSP00000283195:E2021K	ENSP00000283195:E2021K	E	+	1	0	RANBP2	108749488	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.864000	0.99589	2.710000	0.92621	0.557000	0.71058	GAA		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		325	373	0	0	0	1	0	325	373				
GGCT	79017	broad.mit.edu	37	7	30538452	30538452	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:30538452G>A	ENST00000275428.4	-	3	524	c.390C>T	c.(388-390)taC>taT	p.Y130Y	GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409436.1_Silent_p.Y130Y|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000598361.1_Silent_p.Y45Y	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	130					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)	p.Y130*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GAGCACTTTCGTAATTTGTCA	0.338																																						ENST00000275428.4																			1	Substitution - Nonsense(1)	p.Y130*(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						c.(388-390)taC>taT		gamma-glutamylcyclotransferase							155.0	146.0	149.0					7																	30538452		2203	4300	6503	SO:0001819	synonymous_variant	79017				release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	g.chr7:30538452G>A	BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"""chromosome 7 open reading frame 24"""	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.390C>T	7.37:g.30538452G>A						GGCT_ENST00000409436.1_Silent_p.Y130Y|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000598361.1_Silent_p.Y45Y|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409144.1_Intron	p.Y130Y	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN			3	524	-			130					B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Silent	SNP	ENST00000275428.4	37	c.390C>T	CCDS5428.1																																																																																				0.338	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		63	94	0	0	0	1	0	63	94				
CHD9	80205	broad.mit.edu	37	16	53190078	53190078	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53190078C>T	ENST00000398510.3	+	1	164	c.77C>T	c.(76-78)gCa>gTa	p.A26V	CHD9_ENST00000564845.1_Missense_Mutation_p.A26V|CHD9_ENST00000447540.1_Missense_Mutation_p.A26V|CHD9_ENST00000566029.1_Missense_Mutation_p.A26V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	26					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCAGATGATGCATTTGTACAA	0.388																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(76-78)gCa>gTa		chromodomain helicase DNA binding protein 9							113.0	102.0	106.0					16																	53190078		1876	4093	5969	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190078C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.77C>T	16.37:g.53190078C>T	ENSP00000381522:p.Ala26Val					CHD9_ENST00000398510.3_Missense_Mutation_p.A26V|CHD9_ENST00000564845.1_Missense_Mutation_p.A26V|CHD9_ENST00000447540.1_Missense_Mutation_p.A26V	p.A26V			Q3L8U1	CHD9_HUMAN			2	286	+		all_cancers(37;0.0212)	26					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.77C>T		.	.	.	.	.	.	.	.	.	.	C	12.96	2.095839	0.36952	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	T;T	0.68765	-0.35;-0.35	5.57	5.57	0.84162	.	0.216450	0.31936	N	0.006827	T	0.64560	0.2609	L	0.47716	1.5	0.35878	D	0.828712	B;B;P;B	0.38827	0.137;0.084;0.649;0.137	B;B;B;B	0.38428	0.046;0.021;0.273;0.046	T	0.72534	-0.4264	10	0.51188	T	0.08	-5.5431	19.5623	0.95376	0.0:1.0:0.0:0.0	.	26;26;26;26	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	V	26	ENSP00000396345:A26V;ENSP00000381522:A26V	ENSP00000381522:A26V	A	+	2	0	CHD9	51747579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.586000	0.60984	2.619000	0.88677	0.650000	0.86243	GCA		0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		6	45	0	0	0	1	0	6	45				
RRNAD1	51093	broad.mit.edu	37	1	156702140	156702140	+	Missense_Mutation	SNP	C	C	T	rs147288369		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:156702140C>T	ENST00000368216.4	+	3	934	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	RRNAD1_ENST00000524343.1_Missense_Mutation_p.P60L|RRNAD1_ENST00000368218.4_Missense_Mutation_p.R102W|RRNAD1_ENST00000476229.1_5'UTR	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	102						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GGCCTTTACCCGGATGCCTGG	0.592																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(304-306)Cgg>Tgg		ribosomal RNA adenine dimethylase domain containing 1		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	55.0	59.0	58.0		304,304	4.6	1.0	1	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RRNAD1	NM_001142560.1,NM_015997.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	102/278,102/476	156702140	1,13005	2203	4300	6503	SO:0001583	missense	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156702140C>T	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.304C>T	1.37:g.156702140C>T	ENSP00000357199:p.Arg102Trp					RRNAD1_ENST00000476229.1_5'UTR|RRNAD1_ENST00000524343.1_Missense_Mutation_p.P60L|RRNAD1_ENST00000368218.4_Missense_Mutation_p.R102W	p.R102W	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			3	934	+			102					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.304C>T	CCDS1154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.766602|3.766602	0.69878|0.69878	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143303|ENSG00000143303	ENST00000524343|ENST00000368218;ENST00000368216;ENST00000519086	.|T	.|0.53640	.|0.61	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.61763|0.61763	0.2373|0.2373	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.996	T|T	0.67130|0.67130	-0.5748|-0.5748	6|10	0.87932|0.87932	D|D	0|0	-25.0114|-25.0114	11.4326|11.4326	0.50050|0.50050	0.1805:0.8195:0.0:0.0|0.1805:0.8195:0.0:0.0	.|.	.|102;102	.|Q4VX71;Q96FB5	.|.;RRNAD_HUMAN	L|W	60|102	.|ENSP00000357199:R102W	ENSP00000429389:P60L|ENSP00000357199:R102W	P|R	+|+	2|1	0|2	RRNAD1|RRNAD1	154968764|154968764	0.981000|0.981000	0.34729|0.34729	1.000000|1.000000	0.80357|0.80357	0.879000|0.879000	0.50718|0.50718	2.477000|2.477000	0.45180|0.45180	2.397000|2.397000	0.81536|0.81536	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.592	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		45	89	0	0	0	1	0	45	89				
CDH4	1002	broad.mit.edu	37	20	60504690	60504690	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60504690C>T	ENST00000360469.5	+	13	2117	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	CDH4_ENST00000543233.1_Missense_Mutation_p.R603C	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	677	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACTCAGCTTGCGCATCCTGTA	0.532																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2029-2031)Cgc>Tgc		cadherin 4, type 1, R-cadherin (retinal)							118.0	88.0	98.0					20																	60504690		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60504690C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2029C>T	20.37:g.60504690C>T	ENSP00000353656:p.Arg677Cys					CDH4_ENST00000543233.1_Missense_Mutation_p.R603C	p.R677C	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		13	2117	+			677			Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2029C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837098	0.71373	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.61392	0.11;0.11	4.14	3.18	0.36537	Cadherin (3);Cadherin-like (1);	0.056069	0.64402	D	0.000002	T	0.76018	0.3929	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.78478	-0.2188	9	.	.	.	.	11.3248	0.49442	0.3281:0.6718:0.0:0.0	.	677	P55283	CADH4_HUMAN	C	677;585;603	ENSP00000353656:R677C;ENSP00000443301:R603C	.	R	+	1	0	CDH4	59938085	0.002000	0.14202	0.994000	0.49952	0.871000	0.50021	-0.065000	0.11617	0.699000	0.31761	0.561000	0.74099	CGC		0.532	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		37	105	0	0	0	1	0	37	105				
CYP26B1	56603	broad.mit.edu	37	2	72359683	72359683	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:72359683G>A	ENST00000001146.2	-	6	1415	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	CYP26B1_ENST00000412253.1_Silent_p.P213P|CYP26B1_ENST00000546307.1_Silent_p.P329P	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	404					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTTTGAACACGGGCGCTGTGT	0.612																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1210-1212)ccC>ccT		cytochrome P450, family 26, subfamily B, polypeptide 1							42.0	38.0	39.0					2																	72359683		2203	4300	6503	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359683G>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1212C>T	2.37:g.72359683G>A						CYP26B1_ENST00000546307.1_Silent_p.P329P|CYP26B1_ENST00000412253.1_Silent_p.P213P	p.P404P	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			6	1415	-			404					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.1212C>T	CCDS1919.1																																																																																				0.612	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		23	37	0	0	0	1	0	23	37				
SFI1	9814	broad.mit.edu	37	22	31976293	31976293	+	Silent	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:31976293C>A	ENST00000400288.2	+	12	1296	c.1191C>A	c.(1189-1191)acC>acA	p.T397T	SFI1_ENST00000443326.1_Silent_p.T315T|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000443011.1_Silent_p.T244T|SFI1_ENST00000432498.1_Intron|SFI1_ENST00000400289.1_Silent_p.T315T|SFI1_ENST00000414585.1_Silent_p.T244T	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	397					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						ACAATGTGACCCACGCTCATC	0.453																																						ENST00000443326.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(943-945)acC>acA		Sfi1 homolog, spindle assembly associated (yeast)							104.0	101.0	102.0					22																	31976293		2058	4211	6269	SO:0001819	synonymous_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31976293C>A	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1191C>A	22.37:g.31976293C>A						SFI1_ENST00000540643.1_Intron|SFI1_ENST00000414585.1_Silent_p.T244T|SFI1_ENST00000432498.1_Intron|SFI1_ENST00000400288.2_Silent_p.T397T|SFI1_ENST00000400289.1_Silent_p.T315T|SFI1_ENST00000443011.1_Silent_p.T244T	p.T315T	NM_001258326.1|NM_001258327.1	NP_001245255.1|NP_001245256.1	A8K8P3	SFI1_HUMAN			10	1338	+			397					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	c.945C>A	CCDS43004.1																																																																																				0.453	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		5	74	1	0	0.184627	1	0.184896	5	74				
FRMD7	90167	broad.mit.edu	37	X	131208175	131208175	+	IGR	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:131208175C>T	ENST00000298542.4	-	0	3198				MST4_ENST00000496850.1_Silent_p.D351D|MST4_ENST00000354719.6_Silent_p.D389D|MST4_ENST00000481105.1_Silent_p.D435D|MST4_ENST00000394334.2_Silent_p.D413D|MST4_ENST00000394335.2_Silent_p.D336D	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7						regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.D413D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GTTCAGCAGACGAATCCCCCT	0.363													C|||	1	0.000264901	0.0	0.0014	3775	,	,		11124	0.0		0.0	False		,,,				2504	0.0					ENST00000394334.2																			1	Substitution - coding silent(1)	p.D413D(1)	large_intestine(1)	endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(1237-1239)gaC>gaT									99.0	97.0	98.0					X																	131208175		2203	4298	6501	SO:0001628	intergenic_variant	0				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131208175C>T	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421		X.37:g.131208175C>T						MST4_ENST00000394335.2_Silent_p.D336D|MST4_ENST00000354719.6_Silent_p.D389D|MST4_ENST00000496850.1_Silent_p.D351D|MST4_ENST00000481105.1_Silent_p.D435D	p.D413D	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN			12	1492	+	Acute lymphoblastic leukemia(192;0.000127)		413					C0LLJ3|Q5JX99	Silent	SNP	ENST00000298542.4	37	c.1239C>T	CCDS35397.1																																																																																				0.363	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		124	21	0	0	0	1	0	124	21				
DUSP8	1850	broad.mit.edu	37	11	1578531	1578531	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1578531C>T	ENST00000397374.3	-	7	1222	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	DUSP8_ENST00000331588.4_Silent_p.P365P|DUSP8_ENST00000528778.1_5'Flank	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	365	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CGCTGGTcgccgggggcgtgg	0.731																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(1093-1095)ccG>ccA		dual specificity phosphatase 8							3.0	4.0	4.0					11																	1578531		1438	3194	4632	SO:0001819	synonymous_variant	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1578531C>T		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.1095G>A	11.37:g.1578531C>T						DUSP8_ENST00000331588.4_Silent_p.P365P	p.P365P	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	7	1222	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	365			Pro-rich.|Tyrosine-protein phosphatase.		Q86SS8	Silent	SNP	ENST00000397374.3	37	c.1095G>A	CCDS7724.1																																																																																				0.731	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		6	4	0	0	0	1	0	6	4				
TP53	7157	broad.mit.edu	37	17	7578463	7578463	+	Missense_Mutation	SNP	C	C	T	rs371524413		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7578463C>T	ENST00000269305.4	-	5	656	c.467G>A	c.(466-468)cGc>cAc	p.R156H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R156H|TP53_ENST00000413465.2_Missense_Mutation_p.R156H|TP53_ENST00000420246.2_Missense_Mutation_p.R156H|TP53_ENST00000359597.4_Missense_Mutation_p.R156H|TP53_ENST00000455263.2_Missense_Mutation_p.R156H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCGCGGACGCGGGTGCCGGG	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		72	Substitution - Missense(37)|Deletion - In frame(11)|Deletion - Frameshift(10)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(1)	p.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(1)	breast(9)|lung(8)|ovary(8)|stomach(7)|upper_aerodigestive_tract(6)|large_intestine(5)|skin(5)|bone(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|kidney(2)|liver(2)|oesophagus(2)|biliary_tract(1)|prostate(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM984589	TP53	M		c.(466-468)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	50.0	52.0	51.0		467,467,467,467,71,71,71	3.5	0.0	17		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	156/394,156/394,156/347,156/342,24/262,24/210,24/215	7578463	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578463C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.467G>A	17.37:g.7578463C>T	ENSP00000269305:p.Arg156His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.R156H|TP53_ENST00000359597.4_Missense_Mutation_p.R156H|TP53_ENST00000445888.2_Missense_Mutation_p.R156H|TP53_ENST00000455263.2_Missense_Mutation_p.R156H|TP53_ENST00000269305.4_Missense_Mutation_p.R156H	p.R156H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	599	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	156		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.467G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488046	0.44249	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	5.47	3.45	0.39498	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.599272	0.17934	N	0.157074	D	0.99515	0.9827	L	0.61036	1.89	0.09310	N	1	D;D;B;D;D;D;D	0.89917	1.0;0.987;0.122;0.998;0.981;0.999;1.0	D;P;B;D;P;D;P	0.70487	0.969;0.802;0.027;0.92;0.826;0.914;0.897	D	0.98939	1.0790	10	0.72032	D	0.01	-1.0137	6.8349	0.23931	0.3112:0.607:0.0:0.0817	.	117;156;156;63;156;156;156	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	156;156;156;156;156;156;145;63;24;63;24;156	ENSP00000410739:R156H;ENSP00000352610:R156H;ENSP00000269305:R156H;ENSP00000398846:R156H;ENSP00000391127:R156H;ENSP00000391478:R156H;ENSP00000425104:R24H;ENSP00000423862:R63H;ENSP00000424104:R156H	ENSP00000269305:R156H	R	-	2	0	TP53	7519188	0.333000	0.24731	0.002000	0.10522	0.138000	0.21146	4.631000	0.61304	0.779000	0.33543	0.563000	0.77884	CGC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		72	24	0	0	0	1	0	72	24				
CALHM2	51063	broad.mit.edu	37	10	105209166	105209166	+	Missense_Mutation	SNP	C	C	T	rs139579411		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105209166C>T	ENST00000260743.5	-	3	1056	c.533G>A	c.(532-534)cGc>cAc	p.R178H	CALHM2_ENST00000494180.1_5'Flank|CALHM2_ENST00000369788.3_Missense_Mutation_p.R178H|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000393235.1_Missense_Mutation_p.R178H	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	178					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCTGAGCCTGCGGCTGACCTC	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18654	0.0		0.0	False		,,,				2504	0.0					ENST00000393235.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(532-534)cGc>cAc		calcium homeostasis modulator 2		C	HIS/ARG	1,4393		0,1,2196	65.0	67.0	67.0		533	5.6	1.0	10	dbSNP_134	67	2,8586		0,2,4292	yes	missense	CALHM2	NM_015916.4	29	0,3,6488	TT,TC,CC		0.0233,0.0228,0.0231	probably-damaging	178/324	105209166	3,12979	2197	4294	6491	SO:0001583	missense	51063					integral to membrane		g.chr10:105209166C>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.533G>A	10.37:g.105209166C>T	ENSP00000260743:p.Arg178His					CALHM2_ENST00000369788.3_Missense_Mutation_p.R178H|CALHM2_ENST00000260743.5_Missense_Mutation_p.R178H	p.R178H			Q9HA72	CAHM2_HUMAN			3	1730	-			178					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.533G>A	CCDS7549.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	28.9	4.959377	0.92726	2.28E-4	2.33E-4	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.19394	2.15;2.15;2.15	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	M	0.76002	2.32	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.962	T	0.42649	-0.9439	10	0.46703	T	0.11	-36.4433	19.5055	0.95113	0.0:1.0:0.0:0.0	.	178;178;178	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	H	178	ENSP00000358803:R178H;ENSP00000260743:R178H;ENSP00000376927:R178H	ENSP00000260743:R178H	R	-	2	0	CALHM2	105199156	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.789000	0.75110	2.613000	0.88420	0.561000	0.74099	CGC		0.592	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		33	123	0	0	0	1	0	33	123				
SYNPO	11346	broad.mit.edu	37	5	150029450	150029450	+	Missense_Mutation	SNP	G	G	A	rs368637681		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150029450G>A	ENST00000394243.1	+	3	2719	c.2345G>A	c.(2344-2346)cGg>cAg	p.R782Q	SYNPO_ENST00000519664.1_Missense_Mutation_p.R538Q|SYNPO_ENST00000307662.4_Missense_Mutation_p.R538Q|SYNPO_ENST00000522122.1_Missense_Mutation_p.R782Q	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	782	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCAGCCCGGACCCCGCCT	0.687																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2344-2346)cGg>cAg		synaptopodin		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405		0,1,2202	52.0	69.0	64.0		1613,2345,2345,1613	5.1	0.5	5		64	0,8596		0,0,4298	no	missense,missense,missense,missense	SYNPO	NM_001109974.2,NM_001166208.1,NM_001166209.1,NM_007286.5	43,43,43,43	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	538/686,782/930,782/930,538/904	150029450	1,13001	2203	4298	6501	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029450G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2345G>A	5.37:g.150029450G>A	ENSP00000377789:p.Arg782Gln					SYNPO_ENST00000307662.4_Missense_Mutation_p.R538Q|SYNPO_ENST00000522122.1_Missense_Mutation_p.R782Q|SYNPO_ENST00000519664.1_Missense_Mutation_p.R538Q	p.R782Q	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2719	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	782			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.2345G>A	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230516	0.58777	2.27E-4	0.0	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.25749	1.78;1.78;1.83	5.06	5.06	0.68205	.	0.000000	0.44902	D	0.000411	T	0.23649	0.0572	L	0.36672	1.1	0.20196	N	0.999923	P;D	0.56287	0.803;0.975	B;P	0.47941	0.307;0.562	T	0.11060	-1.0603	10	0.15066	T	0.55	-20.9209	11.557	0.50755	0.0832:0.0:0.9168:0.0	.	538;782	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	Q	782;782;538;538	ENSP00000377789:R782Q;ENSP00000428378:R782Q;ENSP00000429268:R538Q	ENSP00000302139:R538Q	R	+	2	0	SYNPO	150009643	0.795000	0.28851	0.508000	0.27688	0.966000	0.64601	2.234000	0.43035	2.363000	0.80096	0.462000	0.41574	CGG		0.687	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		55	211	0	0	0	1	0	55	211				
PRX	57716	broad.mit.edu	37	19	40913824	40913824	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:40913824G>A	ENST00000324001.7	-	4	286	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	PRX_ENST00000599513.1_5'UTR|PRX_ENST00000291825.7_Missense_Mutation_p.R6W	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	6					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGGCACTCCGGCTCCTGGCC	0.627																																						ENST00000291825.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(16-18)Cgg>Tgg		periaxin							61.0	51.0	55.0					19																	40913824		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40913824G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.16C>T	19.37:g.40913824G>A	ENSP00000326018:p.Arg6Trp					PRX_ENST00000324001.7_Missense_Mutation_p.R6W|PRX_ENST00000599513.1_5'UTR	p.R6W	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		4	284	-			6					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.16C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547778	0.65311	.	.	ENSG00000105227	ENST00000324001;ENST00000291825;ENST00000341562	T;T	0.50001	4.36;0.76	5.27	5.27	0.74061	.	0.872388	0.09919	N	0.738780	T	0.58722	0.2142	L	0.46157	1.445	0.32376	N	0.555193	D;D	0.76494	0.999;0.999	P;P	0.59288	0.798;0.855	T	0.61153	-0.7120	10	0.72032	D	0.01	-7.747	11.7809	0.52013	0.0:0.0:0.8243:0.1757	.	6;6	Q9BXM0-2;Q9BXM0	.;PRAX_HUMAN	W	6	ENSP00000326018:R6W;ENSP00000291825:R6W	ENSP00000291825:R6W	R	-	1	2	PRX	45605664	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.491000	0.45303	2.623000	0.88846	0.561000	0.74099	CGG		0.627	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		23	62	0	0	0	1	0	23	62				
C16orf92	146378	broad.mit.edu	37	16	30035371	30035371	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:30035371C>T	ENST00000300575.2	+	3	362	c.341C>T	c.(340-342)gCg>gTg	p.A114V	DOC2A_ENST00000567824.1_5'Flank	NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	114						integral component of membrane (GO:0016021)				breast(3)|lung(3)	6						CTGGTGGTGGCGTTCTTCTTT	0.582																																						ENST00000300575.2																			0				breast(3)|lung(3)	6						c.(340-342)gCg>gTg		chromosome 16 open reading frame 92							204.0	212.0	209.0					16																	30035371		2046	4205	6251	SO:0001583	missense	146378					integral to membrane		g.chr16:30035371C>T	AK058133	CCDS42146.1	16p11.2	2012-05-30			ENSG00000167194	ENSG00000167194			26346	protein-coding gene	gene with protein product							Standard	NM_001109659		Approved	FLJ25404	uc002dvs.2	Q96LL3	OTTHUMG00000177107	ENST00000300575.2:c.341C>T	16.37:g.30035371C>T	ENSP00000300575:p.Ala114Val						p.A114V	NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN			3	362	+			114					Q494R8	Missense_Mutation	SNP	ENST00000300575.2	37	c.341C>T	CCDS42146.1	.	.	.	.	.	.	.	.	.	.	C	2.977	-0.211178	0.06140	.	.	ENSG00000167194	ENST00000300575	T	0.30714	1.52	5.29	1.91	0.25777	.	0.148185	0.31734	N	0.007142	T	0.14657	0.0354	N	0.19112	0.55	0.09310	N	1	B;B	0.21753	0.06;0.017	B;B	0.17098	0.017;0.017	T	0.28933	-1.0028	10	0.08837	T	0.75	-14.5996	7.483	0.27417	0.0:0.7326:0.0:0.2674	.	114;92	Q96LL3;Q96LL3-2	CP092_HUMAN;.	V	114	ENSP00000300575:A114V	ENSP00000300575:A114V	A	+	2	0	C16orf92	29942872	0.000000	0.05858	0.019000	0.16419	0.007000	0.05969	0.181000	0.16880	0.614000	0.30107	-0.940000	0.02684	GCG		0.582	C16orf92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435351.1	NM_001109659		63	74	0	0	0	1	0	63	74				
GPER1	2852	broad.mit.edu	37	7	1132151	1132151	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:1132151G>A	ENST00000297469.3	+	2	1478	c.787G>A	c.(787-789)Gcg>Acg	p.A263T	C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.A263T|GPER1_ENST00000397092.1_Missense_Mutation_p.A263T|GPER1_ENST00000401670.1_Missense_Mutation_p.A263T|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	263					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CATGATCCTCGCGGTGGTGCT	0.687																																						ENST00000397092.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13						c.(787-789)Gcg>Acg									49.0	52.0	51.0					7																	1132151		2203	4300	6503	SO:0001583	missense	0					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1132151G>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.787G>A	7.37:g.1132151G>A	ENSP00000297469:p.Ala263Thr					C7orf50_ENST00000397098.3_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.A263T|GPER_ENST00000397088.3_Missense_Mutation_p.A263T|GPER_ENST00000401670.1_Missense_Mutation_p.A263T|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron	p.A263T	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	3	1671	+		Ovarian(82;0.0253)	263					A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.787G>A	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067118	0.55539	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.43	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.291855	0.35772	N	0.002982	T	0.48589	0.1508	L	0.41124	1.26	0.27206	N	0.960035	D	0.67145	0.996	P	0.59948	0.866	T	0.41342	-0.9514	10	0.66056	D	0.02	-20.2984	9.684	0.40087	0.1577:0.0:0.8423:0.0	.	263	Q99527	GPER_HUMAN	T	263	ENSP00000385151:A263T;ENSP00000380281:A263T;ENSP00000297469:A263T;ENSP00000380277:A263T	ENSP00000297469:A263T	A	+	1	0	GPER	1098677	1.000000	0.71417	0.036000	0.18154	0.618000	0.37518	5.223000	0.65283	1.298000	0.44778	0.655000	0.94253	GCG		0.687	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		49	94	0	0	0	1	0	49	94				
FBXO34	55030	broad.mit.edu	37	14	55818984	55818984	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:55818984C>T	ENST00000313833.4	+	2	2121	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	FBXO34_ENST00000440021.1_Missense_Mutation_p.R626C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	626										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCGAGATCCACGCTATAGAGA	0.478																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1876-1878)Cgc>Tgc		F-box protein 34							102.0	93.0	96.0					14																	55818984		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818984C>T	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1876C>T	14.37:g.55818984C>T	ENSP00000313159:p.Arg626Cys					FBXO34_ENST00000440021.1_Missense_Mutation_p.R626C	p.R626C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	2121	+			626					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.1876C>T	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625078	0.28889	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.22134	1.97;1.97	5.91	2.05	0.26809	F-box domain, Skp2-like (1);	0.326580	0.28470	N	0.015226	T	0.20251	0.0487	M	0.71581	2.175	0.80722	D	1	B	0.28667	0.219	B	0.16722	0.016	T	0.03394	-1.1041	10	0.66056	D	0.02	.	7.2197	0.25979	0.1212:0.686:0.0:0.1928	.	626	Q9NWN3	FBX34_HUMAN	C	626	ENSP00000313159:R626C;ENSP00000394117:R626C	ENSP00000313159:R626C	R	+	1	0	FBXO34	54888737	0.996000	0.38824	0.989000	0.46669	0.568000	0.35870	3.151000	0.50670	0.109000	0.17891	-0.136000	0.14681	CGC		0.478	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			54	34	0	0	0	1	0	54	34				
TRPM6	140803	broad.mit.edu	37	9	77390827	77390827	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77390827G>A	ENST00000360774.1	-	24	3612	c.3375C>T	c.(3373-3375)caC>caT	p.H1125H	TRPM6_ENST00000451710.3_Silent_p.H1125H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.H1125H|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.H1120H|TRPM6_ENST00000449912.2_Silent_p.H1120H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1125					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTCTTGGTCGTGAGGAGCTC	0.537																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(3373-3375)caC>caT		transient receptor potential cation channel, subfamily M, member 6							97.0	102.0	100.0					9																	77390827		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77390827G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3375C>T	9.37:g.77390827G>A						TRPM6_ENST00000449912.2_Silent_p.H1120H|TRPM6_ENST00000376864.4_Silent_p.H1125H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.H1120H|TRPM6_ENST00000360774.1_Silent_p.H1125H	p.H1125H			Q9BX84	TRPM6_HUMAN			24	3612	-			1125					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.3375C>T	CCDS6647.1																																																																																				0.537	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		68	108	0	0	0	1	0	68	108				
MAN2B1	4125	broad.mit.edu	37	19	12768302	12768302	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12768302G>A	ENST00000456935.2	-	11	1417	c.1377C>T	c.(1375-1377)aaC>aaT	p.N459N	MAN2B1_ENST00000221363.4_Silent_p.N458N|MAN2B1_ENST00000495617.1_5'UTR	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	459					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGCGTAGTCGTTGGCCACGT	0.682																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1375-1377)aaC>aaT		mannosidase, alpha, class 2B, member 1							11.0	9.0	10.0					19																	12768302		2157	4231	6388	SO:0001819	synonymous_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12768302G>A		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1377C>T	19.37:g.12768302G>A						MAN2B1_ENST00000221363.4_Silent_p.N458N|MAN2B1_ENST00000495617.1_5'UTR	p.N459N	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			11	1417	-			459					G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	c.1377C>T	CCDS32919.1																																																																																				0.682	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			4	3	0	0	0	1	0	4	3				
EPN3	55040	broad.mit.edu	37	17	48616601	48616601	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48616601C>T	ENST00000268933.3	+	5	1395	c.816C>T	c.(814-816)gcC>gcT	p.A272A	EPN3_ENST00000541226.1_Silent_p.A189A|EPN3_ENST00000537145.1_Silent_p.A300A|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	272						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GTGCAGGGGCCGTGGTCCACC	0.607																																						ENST00000268933.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(814-816)gcC>gcT		epsin 3							86.0	86.0	86.0					17																	48616601		2203	4300	6503	SO:0001819	synonymous_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48616601C>T	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.816C>T	17.37:g.48616601C>T						EPN3_ENST00000541226.1_Silent_p.A189A|EPN3_ENST00000537145.1_Silent_p.A300A	p.A272A	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		5	1395	+	Breast(11;1.23e-18)		272					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	c.816C>T	CCDS11570.1																																																																																				0.607	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		73	24	0	0	0	1	0	73	24				
FGB	2244	broad.mit.edu	37	4	155490927	155490927	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:155490927C>T	ENST00000302068.4	+	7	1283	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FGB_ENST00000509493.1_Missense_Mutation_p.T188M|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	407	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|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)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCAGCACGTATGACAGA	0.423																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1219-1221)aCg>aTg		fibrinogen beta chain	Sucralfate(DB00364)						155.0	131.0	139.0					4																	155490927		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490927C>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1220C>T	4.37:g.155490927C>T	ENSP00000306099:p.Thr407Met					FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.T188M	p.T407M	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			7	1283	+	all_hematologic(180;0.215)	Renal(120;0.0458)	407			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1220C>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542898	0.86022	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;D	0.91237	-2.81;-2.81	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.97711	0.9249	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98559	1.0640	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	390;407	B4E1D3;P02675	.;FIBB_HUMAN	M	407;390;188	ENSP00000306099:T407M;ENSP00000426757:T188M	ENSP00000306099:T407M	T	+	2	0	FGB	155710377	1.000000	0.71417	0.970000	0.41538	0.611000	0.37282	7.744000	0.85034	2.861000	0.98227	0.655000	0.94253	ACG		0.423	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		46	76	0	0	0	1	0	46	76				
DNAH3	55567	broad.mit.edu	37	16	21049298	21049298	+	Missense_Mutation	SNP	C	C	T	rs202009111		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:21049298C>T	ENST00000261383.3	-	34	4734	c.4735G>A	c.(4735-4737)Gcc>Acc	p.A1579T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1579T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1579	AAA 1. {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)		ATCTTCTGGGCGAGACTAGAA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		21135	0.001		0.0	False		,,,				2504	0.0					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.(4735-4737)Gcc>Acc		dynein, axonemal, heavy chain 3							78.0	58.0	65.0					16																	21049298		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21049298C>T	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.4735G>A	16.37:g.21049298C>T	ENSP00000261383:p.Ala1579Thr					DNAH3_ENST00000415178.1_Missense_Mutation_p.A1579T	p.A1579T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	34	4734	-			1579			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4735G>A	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.90	3.249258	0.59103	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.14022	2.54;2.54	5.76	3.79	0.43588	.	0.131385	0.49916	D	0.000126	T	0.45276	0.1334	H	0.94620	3.56	0.80722	D	1	D	0.63880	0.993	P	0.60345	0.873	T	0.63382	-0.6650	10	0.87932	D	0	.	15.2184	0.73288	0.2573:0.7427:0.0:0.0	.	1579	Q8TD57	DYH3_HUMAN	T	1579	ENSP00000261383:A1579T;ENSP00000394245:A1579T	ENSP00000261383:A1579T	A	-	1	0	DNAH3	20956799	0.891000	0.30450	0.695000	0.30226	0.267000	0.26476	1.794000	0.38774	0.770000	0.33336	-0.310000	0.09108	GCC		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	45	0	0	0	1	0	4	45				
CCER1	196477	broad.mit.edu	37	12	91348005	91348005	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:91348005G>A	ENST00000358859.2	-	1	948	c.515C>T	c.(514-516)cCg>cTg	p.P172L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	172																	CAGCTTGACCGGCCGCGGCAG	0.667																																						ENST00000358859.2																			0											c.(514-516)cCg>cTg		coiled-coil glutamate-rich protein 1							38.0	41.0	40.0					12																	91348005		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91348005G>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.515C>T	12.37:g.91348005G>A	ENSP00000351727:p.Pro172Leu					CCER1_ENST00000548187.1_Intron	p.P172L	NM_152638.2	NP_689851.1					1	948	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.515C>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005641	0.54254	.	.	ENSG00000197651	ENST00000358859	T	0.59638	0.25	4.52	4.52	0.55395	.	0.000000	0.34200	N	0.004177	T	0.66519	0.2797	L	0.32530	0.975	0.51482	D	0.999922	D	0.89917	1.0	D	0.91635	0.999	T	0.70583	-0.4832	10	0.87932	D	0	-15.187	15.2108	0.73222	0.0:0.0:1.0:0.0	.	172	Q8TC90	CL012_HUMAN	L	172	ENSP00000351727:P172L	ENSP00000351727:P172L	P	-	2	0	C12orf12	89872136	1.000000	0.71417	0.894000	0.35097	0.039000	0.13416	5.389000	0.66255	2.329000	0.79093	0.462000	0.41574	CCG		0.667	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		37	79	0	0	0	1	0	37	79				
DIS3L2	129563	broad.mit.edu	37	2	233128091	233128091	+	Missense_Mutation	SNP	G	G	A	rs375517001		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233128091G>A	ENST00000409307.1	+	12	1600	c.1600G>A	c.(1600-1602)Gga>Aga	p.G534R	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Missense_Mutation_p.G534R					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAATCTCCACGGAATTGCCAA	0.522																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(1600-1602)Gga>Aga		DIS3 mitotic control homolog (S. cerevisiae)-like 2		G	ARG/GLY	0,4090		0,0,2045	97.0	101.0	99.0		1600	-9.5	0.0	2		99	1,8423		0,1,4211	no	missense	DIS3L2	NM_152383.4	125	0,1,6256	AA,AG,GG		0.0119,0.0,0.0080	benign	534/886	233128091	1,12513	2045	4212	6257	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233128091G>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1600G>A	2.37:g.233128091G>A	ENSP00000386799:p.Gly534Arg					DIS3L2_ENST00000409307.1_Missense_Mutation_p.G534R|DIS3L2_ENST00000273009.6_Intron	p.G534R	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	13	1876	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	534						Missense_Mutation	SNP	ENST00000409307.1	37	c.1600G>A	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	G	0.083	-1.179685	0.01633	0.0	1.19E-4	ENSG00000144535	ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T	0.32753	1.44;1.44;1.44	5.2	-9.46	0.00597	Ribonuclease II/R (2);	1.577580	0.03015	N	0.149990	T	0.09818	0.0241	N	0.01242	-0.935	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24835	-1.0149	9	.	.	.	8.9406	11.8781	0.52558	0.3477:0.4391:0.2132:0.0	.	534	Q8IYB7	DI3L2_HUMAN	R	534;534;534;534;169	ENSP00000315569:G534R;ENSP00000386799:G534R;ENSP00000415419:G169R	.	G	+	1	0	DIS3L2	232836335	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.488000	0.02308	-2.916000	0.00306	-0.810000	0.03169	GGA		0.522	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		17	121	0	0	0	1	0	17	121				
IQCH	64799	broad.mit.edu	37	15	67629360	67629360	+	Silent	SNP	G	G	A	rs369068114		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:67629360G>A	ENST00000335894.4	+	5	501	c.435G>A	c.(433-435)acG>acA	p.T145T	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	145										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCAGCCTCACGGTTCTGCCAT	0.383																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(433-435)acG>acA		IQ motif containing H		G		0,4402		0,0,2201	148.0	141.0	143.0		435	-11.5	0.0	15		143	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	IQCH	NM_001031715.2		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		145/1028	67629360	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67629360G>A	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.435G>A	15.37:g.67629360G>A						IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR	p.T145T	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	5	501	+			145					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.435G>A	CCDS32273.1																																																																																				0.383	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		8	134	0	0	0	1	0	8	134				
OR51G1	79324	broad.mit.edu	37	11	4944910	4944910	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:4944910G>A	ENST00000321961.2	-	1	727	c.660C>T	c.(658-660)taC>taT	p.Y220Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y220*(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGAGGGCGTATGAGAGAA	0.547																																						ENST00000321961.2																			1	Substitution - Nonsense(1)	p.Y220*(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(658-660)taC>taT		olfactory receptor, family 51, subfamily G, member 1							115.0	95.0	102.0					11																	4944910		2201	4298	6499	SO:0001819	synonymous_variant	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944910G>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.660C>T	11.37:g.4944910G>A						MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.Y220Y	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	727	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	220					B9EGW8|Q6IFH6	Silent	SNP	ENST00000321961.2	37	c.660C>T	CCDS31366.1																																																																																				0.547	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		26	89	0	0	0	1	0	26	89				
DNMT3B	1789	broad.mit.edu	37	20	31368261	31368261	+	Silent	SNP	G	G	A	rs138805251		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:31368261G>A	ENST00000328111.2	+	2	453	c.132G>A	c.(130-132)ccG>ccA	p.P44P	DNMT3B_ENST00000353855.2_Silent_p.P44P|DNMT3B_ENST00000375623.4_Silent_p.P44P|DNMT3B_ENST00000348286.2_Silent_p.P44P|DNMT3B_ENST00000201963.3_Silent_p.P56P|DNMT3B_ENST00000456297.2_Silent_p.P44P|DNMT3B_ENST00000344505.4_Silent_p.P44P|DNMT3B_ENST00000443239.3_Silent_p.P44P	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	44	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCGCACCCCGGAGATCAGAG	0.652																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(130-132)ccG>ccA		DNA (cytosine-5-)-methyltransferase 3 beta		G	,,,,,	0,4404		0,0,2202	22.0	25.0	24.0		132,132,132,132,132,168	-1.6	1.0	20	dbSNP_134	24	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DNMT3B	NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2	,,,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	44/729,44/695,44/854,44/834,44/771,56/846	31368261	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31368261G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.132G>A	20.37:g.31368261G>A						DNMT3B_ENST00000353855.2_Silent_p.P44P|DNMT3B_ENST00000344505.4_Silent_p.P44P|DNMT3B_ENST00000456297.2_Silent_p.P44P|DNMT3B_ENST00000443239.3_Silent_p.P44P|DNMT3B_ENST00000201963.3_Silent_p.P56P|DNMT3B_ENST00000375623.4_Silent_p.P44P|DNMT3B_ENST00000348286.2_Silent_p.P44P	p.P44P	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			2	453	+			44			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	c.132G>A	CCDS13205.1																																																																																				0.652	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		13	39	0	0	0	1	0	13	39				
CIT	11113	broad.mit.edu	37	12	120189940	120189940	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120189940G>A	ENST00000261833.7	-	22	2745	c.2693C>T	c.(2692-2694)gCg>gTg	p.A898V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.A940V	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	898					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGGGCCGCCCGTGCAGC	0.627																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(2818-2820)gCg>gTg		citron (rho-interacting, serine/threonine kinase 21)							45.0	42.0	43.0					12																	120189940		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120189940G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2693C>T	12.37:g.120189940G>A	ENSP00000261833:p.Ala898Val					CIT_ENST00000261833.7_Missense_Mutation_p.A898V|CIT_ENST00000537607.1_5'UTR	p.A940V	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	23	2874	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	898					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2819C>T	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.76|15.76	2.929402|2.929402	0.52759|0.52759	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.66638|.	-0.15;-0.22|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.391971|.	0.26927|.	N|.	0.021783|.	T|T	0.37461|0.37461	0.1004|0.1004	N|N	0.08118|0.08118	0|0	0.32409|0.32409	N|N	0.550916|0.550916	B;B;B|.	0.22604|.	0.031;0.063;0.072|.	B;B;B|.	0.16722|.	0.006;0.01;0.016|.	T|T	0.40384|0.40384	-0.9566|-0.9566	10|5	0.30078|.	T|.	0.28|.	.|.	19.4232|19.4232	0.94730|0.94730	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	940;898;431|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	V|W	940;898|526	ENSP00000376306:A940V;ENSP00000261833:A898V|.	ENSP00000261833:A898V|.	A|R	-|-	2|1	0|2	CIT|CIT	118674323|118674323	0.998000|0.998000	0.40836|0.40836	0.966000|0.966000	0.40874|0.40874	0.937000|0.937000	0.57800|0.57800	4.405000|4.405000	0.59741|0.59741	2.584000|2.584000	0.87258|0.87258	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.627	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		30	58	0	0	0	1	0	30	58				
RNF10	9921	broad.mit.edu	37	12	121000755	121000755	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:121000755A>G	ENST00000325954.4	+	8	1597	c.1136A>G	c.(1135-1137)gAa>gGa	p.E379G	RNF10_ENST00000413266.2_Missense_Mutation_p.E379G	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	379					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGACTCGGGAAGAGGCTCTG	0.547																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(1135-1137)gAa>gGa		ring finger protein 10							142.0	125.0	131.0					12																	121000755		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121000755A>G	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1136A>G	12.37:g.121000755A>G	ENSP00000322242:p.Glu379Gly					RNF10_ENST00000413266.2_Missense_Mutation_p.E379G	p.E379G	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			8	1597	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		379					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.1136A>G	CCDS9201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.46|16.46	3.129472|3.129472	0.56721|0.56721	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000542438;ENST00000413266;ENST00000541955|ENST00000537740	D;D|.	0.90563|.	-2.69;-2.68|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.193924|.	0.53938|.	D|.	0.000049|.	T|T	0.61400|0.61400	0.2344|0.2344	L|L	0.51422|0.51422	1.61|1.61	0.48762|0.48762	D|D	0.999701|0.999701	B;B|.	0.31949|.	0.348;0.124|.	B;B|.	0.36244|.	0.22;0.074|.	T|T	0.59500|0.59500	-0.7443|-0.7443	10|5	0.51188|.	T|.	0.08|.	.|.	11.9251|11.9251	0.52814|0.52814	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	379;379|.	Q8N5U6-2;Q8N5U6|.	.;RNF10_HUMAN|.	G|E	379;379;109;379;120|57	ENSP00000322242:E379G;ENSP00000415682:E379G|.	ENSP00000322242:E379G|.	E|K	+|+	2|1	0|0	RNF10|RNF10	119485138|119485138	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	4.364000|4.364000	0.59479|0.59479	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.547	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			31	66	0	0	0	1	0	31	66				
BZW1	9689	broad.mit.edu	37	2	201683504	201683504	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:201683504G>A	ENST00000409600.1	+	9	1301	c.846G>A	c.(844-846)atG>atA	p.M282I	BZW1_ENST00000452790.2_Missense_Mutation_p.M314I|BZW1_ENST00000409226.1_Missense_Mutation_p.M286I	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	282	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACA	0.373																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(844-846)atG>atA		basic leucine zipper and W2 domains 1							80.0	74.0	76.0					2																	201683504		1822	4076	5898	SO:0001583	missense	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201683504G>A	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.846G>A	2.37:g.201683504G>A	ENSP00000386474:p.Met282Ile					BZW1_ENST00000452790.2_Missense_Mutation_p.M314I|BZW1_ENST00000409226.1_Missense_Mutation_p.M286I	p.M282I	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			9	1301	+			282			W2.		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	ENST00000409600.1	37	c.846G>A	CCDS56156.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459355	0.63401	.	.	ENSG00000082153	ENST00000410110;ENST00000409600;ENST00000431249;ENST00000409226;ENST00000452790	T;T;T;T	0.79454	0.91;-1.27;-1.27;-1.27	5.56	5.56	0.83823	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	L	0.53671	1.685	0.80722	D	1	B;B	0.16396	0.017;0.005	B;B	0.16289	0.015;0.008	T	0.68352	-0.5431	10	0.24483	T	0.36	-10.8224	19.9052	0.97004	0.0:0.0:1.0:0.0	.	314;282	B4DLZ8;Q7L1Q6	.;BZW1_HUMAN	I	282;282;198;286;314	ENSP00000387086:M282I;ENSP00000386474:M282I;ENSP00000386837:M286I;ENSP00000394316:M314I	ENSP00000386837:M286I	M	+	3	0	BZW1	201391749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.690000	0.98676	2.776000	0.95493	0.655000	0.94253	ATG		0.373	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		19	33	0	0	0	1	0	19	33				
NCOR2	9612	broad.mit.edu	37	12	124826571	124826571	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:124826571C>T	ENST00000405201.1	-	34	4986	c.4986G>A	c.(4984-4986)ccG>ccA	p.P1662P	NCOR2_ENST00000429285.2_Silent_p.P1652P|NCOR2_ENST00000356219.3_Silent_p.P1669P|NCOR2_ENST00000404121.2_Silent_p.P1223P|NCOR2_ENST00000397355.1_Silent_p.P1653P|NCOR2_ENST00000404621.1_Silent_p.P1652P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1670					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTACAGGTGCGGGTAGGTGG	0.652																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5005-5007)ccG>ccA		nuclear receptor corepressor 2							39.0	48.0	45.0					12																	124826571		2068	4192	6260	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124826571C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4986G>A	12.37:g.124826571C>T						NCOR2_ENST00000404121.2_Silent_p.P1223P|NCOR2_ENST00000397355.1_Silent_p.P1653P|NCOR2_ENST00000405201.1_Silent_p.P1662P|NCOR2_ENST00000404621.1_Silent_p.P1652P|NCOR2_ENST00000429285.2_Silent_p.P1652P	p.P1669P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	35	5162	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1670					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.5007G>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530335	0.27387	.	.	ENSG00000196498	ENST00000453428	.	.	.	4.23	-3.6	0.04570	.	.	.	.	.	T	0.39489	0.1080	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38520	-0.9657	4	.	.	.	-22.6781	2.6521	0.05002	0.0949:0.2291:0.3258:0.3503	.	.	.	.	T	11	.	.	A	-	1	0	NCOR2	123392524	0.174000	0.23070	0.997000	0.53966	0.997000	0.91878	-0.533000	0.06157	-0.221000	0.09973	0.491000	0.48974	GCA		0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		24	55	0	0	0	1	0	24	55				
PEAK1	79834	broad.mit.edu	37	15	77425402	77425402	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:77425402G>A	ENST00000560626.2	-	6	4497	c.4022C>T	c.(4021-4023)gCg>gTg	p.A1341V	PEAK1_ENST00000312493.4_Missense_Mutation_p.A1341V			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1341	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ATAGTAAACCGCATCACCTGC	0.413																																						ENST00000560626.2																			0											c.(4021-4023)gCg>gTg		pseudopodium-enriched atypical kinase 1							81.0	82.0	82.0					15																	77425402		1927	4141	6068	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425402G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4022C>T	15.37:g.77425402G>A	ENSP00000452796:p.Ala1341Val					PEAK1_ENST00000312493.4_Missense_Mutation_p.A1341V	p.A1341V			Q9H792	PEAK1_HUMAN			6	4497	-			1341			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4022C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264488	0.95399	.	.	ENSG00000173517	ENST00000312493	T	0.30981	1.51	5.56	5.56	0.83823	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60170	0.2248	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63563	-0.6609	10	0.87932	D	0	-6.3935	19.5258	0.95206	0.0:0.0:1.0:0.0	.	1341	Q9H792	PEAK1_HUMAN	V	1341	ENSP00000309230:A1341V	ENSP00000309230:A1341V	A	-	2	0	AC087465.1	75212457	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.869000	0.99810	2.612000	0.88384	0.655000	0.94253	GCG		0.413	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			6	118	0	0	0	1	0	6	118				
SFRP2	6423	broad.mit.edu	37	4	154709690	154709690	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:154709690C>T	ENST00000274063.4	-	1	582	c.298G>A	c.(298-300)Gcc>Acc	p.A100T		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	100	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CAGACGGGGGCGAAGAGCGAG	0.647																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(298-300)Gcc>Acc		secreted frizzled-related protein 2							115.0	126.0	123.0					4																	154709690		2203	4300	6503	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709690C>T	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.298G>A	4.37:g.154709690C>T	ENSP00000274063:p.Ala100Thr						p.A100T	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			1	582	-	all_hematologic(180;0.093)	Renal(120;0.117)	100			FZ.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.298G>A	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394520	0.83011	.	.	ENSG00000145423	ENST00000274063	T	0.76578	-1.03	4.99	4.99	0.66335	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.84529	0.5492	L	0.54863	1.705	0.80722	D	1	D	0.65815	0.995	P	0.62491	0.903	D	0.84428	0.0575	10	0.45353	T	0.12	.	18.6303	0.91358	0.0:1.0:0.0:0.0	.	100	Q96HF1	SFRP2_HUMAN	T	100	ENSP00000274063:A100T	ENSP00000274063:A100T	A	-	1	0	SFRP2	154929140	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.685000	0.84117	2.469000	0.83416	0.655000	0.94253	GCC		0.647	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			37	220	0	0	0	1	0	37	220				
LEMD3	23592	broad.mit.edu	37	12	65637238	65637238	+	Silent	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:65637238T>C	ENST00000308330.2	+	10	2402	c.2376T>C	c.(2374-2376)ttT>ttC	p.F792F		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	792	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GGAATATGTTTGATCCCGTTA	0.318																																						ENST00000308330.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2374-2376)ttT>ttC		LEM domain containing 3							130.0	129.0	129.0					12																	65637238		2202	4299	6501	SO:0001819	synonymous_variant	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65637238T>C	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2376T>C	12.37:g.65637238T>C							p.F792F	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	10	2402	+			792			Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.		Q9NT47|Q9NYA5	Silent	SNP	ENST00000308330.2	37	c.2376T>C	CCDS8972.1																																																																																				0.318	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			41	62	0	0	0	1	0	41	62				
MAPK9	5601	broad.mit.edu	37	5	179676062	179676062	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179676062G>A	ENST00000452135.2	-	6	825	c.527C>T	c.(526-528)gCg>gTg	p.A176V	MAPK9_ENST00000539014.1_Missense_Mutation_p.A176V|MAPK9_ENST00000347470.4_Missense_Mutation_p.A176V|MAPK9_ENST00000425491.2_Missense_Mutation_p.A176V|MAPK9_ENST00000393360.3_Missense_Mutation_p.A176V|MAPK9_ENST00000455781.1_Missense_Mutation_p.A176V|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.A176V			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTAGTGCACGCTGTCCGGGC	0.498																																						ENST00000452135.2																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(526-528)gCg>gTg		mitogen-activated protein kinase 9							147.0	148.0	148.0					5																	179676062		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	g.chr5:179676062G>A	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.527C>T	5.37:g.179676062G>A	ENSP00000394560:p.Ala176Val					MAPK9_ENST00000347470.4_Missense_Mutation_p.A176V|MAPK9_ENST00000539014.1_Missense_Mutation_p.A176V|MAPK9_ENST00000455781.1_Missense_Mutation_p.A176V|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.A176V|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.A176V|MAPK9_ENST00000343111.6_Missense_Mutation_p.A176V	p.A176V			P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	825	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	176			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.527C>T	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318403	0.40996	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.59	4.72	0.59763	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127260	0.53938	D	0.000058	T	0.68016	0.2955	N	0.11870	0.19	0.80722	D	1	B;B;B;B;B	0.32101	0.356;0.057;0.057;0.097;0.019	B;B;B;B;B	0.17433	0.018;0.008;0.004;0.008;0.006	T	0.70085	-0.4969	10	0.66056	D	0.02	-7.0764	14.4306	0.67246	0.0705:0.0:0.9295:0.0	.	176;176;176;176;176	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	V	176	ENSP00000394560:A176V;ENSP00000377028:A176V;ENSP00000389338:A176V;ENSP00000345524:A176V;ENSP00000321410:A176V;ENSP00000397422:A176V;ENSP00000443149:A176V	ENSP00000345524:A176V	A	-	2	0	MAPK9	179608668	1.000000	0.71417	0.627000	0.29227	0.203000	0.24098	9.731000	0.98807	1.376000	0.46267	0.650000	0.86243	GCG		0.498	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			128	161	0	0	0	1	0	128	161				
NT5DC3	51559	broad.mit.edu	37	12	104208744	104208744	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104208744C>T	ENST00000392876.3	-	2	404	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	122						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGGTCCCGTGCAGCATTAAAT	0.448																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(364-366)Gca>Aca		5'-nucleotidase domain containing 3							170.0	159.0	162.0					12																	104208744		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104208744C>T	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.364G>A	12.37:g.104208744C>T	ENSP00000376615:p.Ala122Thr						p.A122T	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			2	404	-			122					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.364G>A	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253163	0.95336	.	.	ENSG00000111696	ENST00000392876	T	0.22134	1.97	5.87	4.99	0.66335	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.35549	-0.9784	10	0.41790	T	0.15	-20.737	15.6177	0.76780	0.0:0.934:0.0:0.066	.	122	Q86UY8	NT5D3_HUMAN	T	122	ENSP00000376615:A122T	ENSP00000376615:A122T	A	-	1	0	NT5DC3	102732874	1.000000	0.71417	0.838000	0.33150	0.961000	0.63080	7.419000	0.80179	1.631000	0.50456	0.655000	0.94253	GCA		0.448	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		74	121	0	0	0	1	0	74	121				
TUBGCP2	10844	broad.mit.edu	37	10	135101799	135101799	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135101799T>C	ENST00000252936.3	-	10	1595	c.1556A>G	c.(1555-1557)tAc>tGc	p.Y519C	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.Y547C|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.Y389C|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.Y519C|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.Y112C			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	519					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CATGAGGAAGTAGCGCTTGAT	0.682																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1555-1557)tAc>tGc		tubulin, gamma complex associated protein 2							42.0	38.0	40.0					10																	135101799		2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135101799T>C	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1556A>G	10.37:g.135101799T>C	ENSP00000252936:p.Tyr519Cys					TUBGCP2_ENST00000252936.3_Missense_Mutation_p.Y519C|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.Y547C|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.Y112C|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.Y389C	p.Y519C	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	11	1912	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	519					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.1556A>G	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	t	23.7	4.441835	0.83993	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.29	5.29	0.74685	.	0.182600	0.50627	D	0.000119	T	0.43233	0.1238	M	0.87456	2.885	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.997	T	0.50423	-0.8830	10	0.87932	D	0	-19.5395	14.4399	0.67309	0.0:0.0:0.0:1.0	.	547;547;519	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	C	519;389;519;112;547	ENSP00000252936:Y519C;ENSP00000395666:Y389C;ENSP00000357551:Y519C;ENSP00000357550:Y112C;ENSP00000446093:Y547C	ENSP00000252936:Y519C	Y	-	2	0	TUBGCP2	134951789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.701000	0.84566	2.148000	0.66965	0.450000	0.29827	TAC		0.682	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			15	53	0	0	0	1	0	15	53				
FBLN1	2192	broad.mit.edu	37	22	45914668	45914668	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:45914668G>A	ENST00000327858.6	+	2	280		c.e2+1		FBLN1_ENST00000340923.5_Splice_Site|FBLN1_ENST00000262722.7_Splice_Site|FBLN1_ENST00000442170.2_Splice_Site|FBLN1_ENST00000402984.3_Splice_Site|FBLN1_ENST00000348697.2_Splice_Site	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAGAATGCAGGTACGTTTGCC	0.567																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.e2+1		fibulin 1							69.0	56.0	60.0					22																	45914668		2201	4300	6501	SO:0001630	splice_region_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45914668G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.185+1G>A	22.37:g.45914668G>A						FBLN1_ENST00000442170.2_Splice_Site|FBLN1_ENST00000402984.3_Splice_Site|FBLN1_ENST00000340923.5_Splice_Site|FBLN1_ENST00000327858.6_Splice_Site|FBLN1_ENST00000262722.7_Splice_Site				P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	2	332	+		Ovarian(80;0.00965)|all_neural(38;0.0416)						B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Splice_Site	SNP	ENST00000327858.6	37		CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292072	0.59976	.	.	ENSG00000077942	ENST00000411478;ENST00000445110;ENST00000455233;ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923;ENST00000439835;ENST00000454279;ENST00000451475	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.529	0.67912	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBLN1	44293332	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	4.351000	0.59398	2.414000	0.81942	0.655000	0.94253	.		0.567	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	Intron	14	14	0	0	0	1	0	14	14				
FAM179A	165186	broad.mit.edu	37	2	29240816	29240816	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:29240816G>A	ENST00000379558.4	+	10	1705	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	FAM179A_ENST00000403861.2_Intron|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	452										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCCCGCCACGCCTCAGGTGG	0.672																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1354-1356)Gcc>Acc		family with sequence similarity 179, member A							10.0	13.0	12.0					2																	29240816		1940	4093	6033	SO:0001583	missense	165186						binding	g.chr2:29240816G>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1354G>A	2.37:g.29240816G>A	ENSP00000368876:p.Ala452Thr					FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron	p.A452T	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			10	1705	+			452					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.1354G>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681473	0.47991	.	.	ENSG00000189350	ENST00000379558	T	0.69561	-0.41	4.26	4.26	0.50523	.	.	.	.	.	T	0.63189	0.2490	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	P	0.54759	0.76	T	0.62882	-0.6760	9	0.38643	T	0.18	.	13.0569	0.58986	0.0:0.0:0.8387:0.1612	.	452	Q6ZUX3	F179A_HUMAN	T	452	ENSP00000368876:A452T	ENSP00000368876:A452T	A	+	1	0	FAM179A	29094320	0.975000	0.34042	0.992000	0.48379	0.242000	0.25591	2.808000	0.47963	2.346000	0.79739	0.563000	0.77884	GCC		0.672	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		9	21	0	0	0	1	0	9	21				
ADAMTS2	9509	broad.mit.edu	37	5	178566910	178566910	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:178566910G>A	ENST00000251582.7	-	11	1857	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	586	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCACACTGGCGGGTCCTGAAC	0.642																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1756-1758)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							86.0	96.0	93.0					5																	178566910		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178566910G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1756C>T	5.37:g.178566910G>A	ENSP00000251582:p.Arg586Cys						p.R586C	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	11	1857	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	586			TSP type-1 1.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1756C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673367	0.88445	.	.	ENSG00000087116	ENST00000251582	T	0.65549	-0.16	5.05	5.05	0.67936	.	0.000000	0.53938	D	0.000057	D	0.89051	0.6605	H	0.99740	4.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94208	0.7456	10	0.87932	D	0	.	17.3886	0.87424	0.0:0.0:1.0:0.0	.	586	O95450	ATS2_HUMAN	C	586	ENSP00000251582:R586C	ENSP00000251582:R586C	R	-	1	0	ADAMTS2	178499516	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.450000	0.80656	2.353000	0.79882	0.561000	0.74099	CGC		0.642	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		107	116	0	0	0	1	0	107	116				
TIMELESS	8914	broad.mit.edu	37	12	56815752	56815752	+	Missense_Mutation	SNP	C	C	T	rs370232505		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56815752C>T	ENST00000553532.1	-	21	2723	c.2573G>A	c.(2572-2574)cGa>cAa	p.R858Q	TIMELESS_ENST00000554616.1_Missense_Mutation_p.R355Q|TIMELESS_ENST00000229201.4_Missense_Mutation_p.R857Q					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTGCGTGTTCGAGGAACAGT	0.547																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2569-2571)cGa>cAa		timeless circadian clock		C	GLN/ARG	0,4406		0,0,2203	139.0	123.0	128.0		2573	5.2	0.5	12		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIMELESS	NM_003920.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	858/1209	56815752	1,13005	2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56815752C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2573G>A	12.37:g.56815752C>T	ENSP00000450607:p.Arg858Gln					TIMELESS_ENST00000554616.1_Missense_Mutation_p.R355Q|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R858Q	p.R857Q	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			21	2724	-			858						Missense_Mutation	SNP	ENST00000553532.1	37	c.2570G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	37	6.316353	0.97467	0.0	1.16E-4	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.13901	2.55;2.55;2.55	5.19	5.19	0.71726	Timeless C-terminal (1);	0.060686	0.64402	D	0.000003	T	0.38825	0.1055	M	0.80183	2.485	0.38684	D	0.952617	D	0.69078	0.997	P	0.62560	0.904	T	0.40831	-0.9542	10	0.66056	D	0.02	-11.5445	17.8454	0.88729	0.0:1.0:0.0:0.0	.	858	Q9UNS1	TIM_HUMAN	Q	857;858;355	ENSP00000229201:R857Q;ENSP00000450607:R858Q;ENSP00000450848:R355Q	ENSP00000229201:R858Q	R	-	2	0	TIMELESS	55102019	0.999000	0.42202	0.461000	0.27105	0.537000	0.34900	4.678000	0.61641	2.595000	0.87683	0.555000	0.69702	CGA		0.547	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		91	110	0	0	0	1	0	91	110				
TRMT13	54482	broad.mit.edu	37	1	100606421	100606421	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:100606421G>A	ENST00000370141.2	+	7	521	c.515G>A	c.(514-516)gGt>gAt	p.G172D		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	172					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TCTATTTTAGGTAACATTGAA	0.338																																						ENST00000370141.2																			0											c.(514-516)gGt>gAt		tRNA methyltransferase 13 homolog (S. cerevisiae)							86.0	87.0	86.0					1																	100606421		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100606421G>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.515G>A	1.37:g.100606421G>A	ENSP00000359160:p.Gly172Asp						p.G172D	NM_019083.2	NP_061956.2					7	521	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.515G>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920632	0.92249	.	.	ENSG00000122435	ENST00000370141	T	0.50001	0.76	5.78	5.78	0.91487	Methyltransferase TRM13 (1);	0.090110	0.85682	D	0.000000	T	0.68044	0.2958	M	0.86268	2.805	0.80722	D	1	P;D	0.67145	0.816;0.996	P;D	0.64506	0.477;0.926	T	0.71553	-0.4558	10	0.62326	D	0.03	-20.1578	20.0136	0.97470	0.0:0.0:1.0:0.0	.	158;172	B4DQS9;Q9NUP7	.;TRM13_HUMAN	D	172	ENSP00000359160:G172D	ENSP00000359160:G172D	G	+	2	0	CCDC76	100379009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.820000	0.75267	2.735000	0.93741	0.563000	0.77884	GGT		0.338	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		17	46	0	0	0	1	0	17	46				
IGFN1	91156	broad.mit.edu	37	1	201184276	201184276	+	Missense_Mutation	SNP	G	G	A	rs189723461		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201184276G>A	ENST00000335211.4	+	14	9119	c.8989G>A	c.(8989-8991)Gtc>Atc	p.V2997I	IGFN1_ENST00000295591.8_Missense_Mutation_p.V157I|IGFN1_ENST00000451870.2_Missense_Mutation_p.V540I	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	540						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CACCCTGACCGTCCAGGGTAA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19622	0.001		0.0	False		,,,				2504	0.0					ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(8989-8991)Gtc>Atc		immunoglobulin-like and fibronectin type III domain containing 1							53.0	44.0	47.0					1																	201184276		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201184276G>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8989G>A	1.37:g.201184276G>A	ENSP00000334714:p.Val2997Ile					IGFN1_ENST00000295591.8_Missense_Mutation_p.V157I|IGFN1_ENST00000451870.2_Missense_Mutation_p.V540I	p.V2997I	NM_001164586.1	NP_001158058.1					14	9119	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.8989G>A	CCDS53455.1	3|3	0.0013736263736263737|0.0013736263736263737	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	13.47|13.47	2.248277|2.248277	0.39697|0.39697	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000451870;ENST00000295591	.|T;T;T	.|0.62788	.|0.0;0.0;0.0	4.65|4.65	1.55|1.55	0.23275|0.23275	.|.	.|0.162941	.|0.40144	.|N	.|0.001178	T|T	0.64789|0.64789	0.2630|0.2630	L|L	0.54965|0.54965	1.715|1.715	0.09310|0.09310	N|N	1|1	.|P	.|0.48998	.|0.918	.|P	.|0.56278	.|0.795	T|T	0.54200|0.54200	-0.8329|-0.8329	5|10	.|0.30854	.|T	.|0.27	.|.	8.8132|8.8132	0.34981|0.34981	0.2769:0.0:0.7231:0.0|0.2769:0.0:0.7231:0.0	.|.	.|2997	.|F8WAI1	.|.	H|I	414|2997;540;157	.|ENSP00000334714:V2997I;ENSP00000398386:V540I;ENSP00000295591:V157I	.|ENSP00000295591:V157I	R|V	+|+	2|1	0|0	IGFN1|IGFN1	199450899|199450899	0.771000|0.771000	0.28555|0.28555	0.007000|0.007000	0.13788|0.13788	0.329000|0.329000	0.28539|0.28539	1.489000|1.489000	0.35562|0.35562	0.590000|0.590000	0.29694|0.29694	0.561000|0.561000	0.74099|0.74099	CGT|GTC		0.587	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		26	37	0	0	0	1	0	26	37				
SLC30A5	64924	broad.mit.edu	37	5	68413208	68413208	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68413208G>A	ENST00000396591.3	+	11	2034	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	475					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAAGCCACTCGGATTTTCTCC	0.413																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1423-1425)cGg>cAg		solute carrier family 30 (zinc transporter), member 5							137.0	126.0	129.0					5																	68413208		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68413208G>A	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1424G>A	5.37:g.68413208G>A	ENSP00000379836:p.Arg475Gln					CTC-498J12.3_ENST00000504129.1_RNA	p.R475Q	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	11	2034	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	475					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.1424G>A	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589776	0.86851	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.61980	0.06	5.44	5.44	0.79542	.	0.092091	0.64402	D	0.000002	T	0.56001	0.1956	L	0.47078	1.49	0.80722	D	1	B;B;P	0.38551	0.069;0.449;0.636	B;B;B	0.31390	0.094;0.119;0.129	T	0.61724	-0.7004	10	0.59425	D	0.04	.	19.041	0.92999	0.0:0.0:1.0:0.0	.	304;304;475	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	Q	475;88	ENSP00000379836:R475Q	ENSP00000379836:R475Q	R	+	2	0	SLC30A5	68448964	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.802000	0.85969	2.835000	0.97688	0.591000	0.81541	CGG		0.413	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			65	93	0	0	0	1	0	65	93				
CDC42BPA	8476	broad.mit.edu	37	1	227261695	227261695	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:227261695G>A	ENST00000366769.3	-	19	3896	c.2605C>T	c.(2605-2607)Cgt>Tgt	p.R869C	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R788C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R869C	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GCAAAACGACGCATTTTCCAG	0.378																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(2605-2607)Cgt>Tgt		CDC42 binding protein kinase alpha (DMPK-like)							137.0	135.0	136.0					1																	227261695		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227261695G>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2605C>T	1.37:g.227261695G>A	ENSP00000355731:p.Arg869Cys					CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R869C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R869C|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R788C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R869C	p.R869C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			19	3896	-		all_cancers(173;0.156)|Prostate(94;0.0792)	869						Missense_Mutation	SNP	ENST00000366769.3	37	c.2605C>T	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.020335|4.020335	0.75275|0.75275	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000441725|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.51071	.|0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.7|5.7	4.78|4.78	0.61160|0.61160	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67571|0.67571	0.2907|0.2907	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|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	.|0.91635	.|0.999;0.999;0.932;0.999;0.988;0.993;0.987	T|T	0.71751|0.71751	-0.4498|-0.4498	5|10	.|0.87932	.|D	.|0	.|.	13.0331|13.0331	0.58854|0.58854	0.0:0.1232:0.7487:0.1281|0.0:0.1232:0.7487:0.1281	.|.	.|869;869;133;788;869;869;71	.|F5H5N0;Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.	V|C	71;162;42|869;788;869;869;869;133;869;869	.|ENSP00000355731:R869C;ENSP00000355729:R788C;ENSP00000335341:R869C;ENSP00000355728:R869C;ENSP00000355726:R869C;ENSP00000443275:R869C;ENSP00000355727:R869C	.|ENSP00000335341:R869C	A|R	-|-	2|1	0|0	CDC42BPA|CDC42BPA	225328318|225328318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.143000|6.143000	0.71756|0.71756	1.396000|1.396000	0.46663|0.46663	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		9	239	0	0	0	1	0	9	239				
EFEMP2	30008	broad.mit.edu	37	11	65635366	65635366	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:65635366C>T	ENST00000307998.6	-	10	1366	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.R379H	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	379					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GTTTCCAGCACGGATCTGAAA	0.552																																						ENST00000307998.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(1135-1137)cGt>cAt		EGF containing fibulin-like extracellular matrix protein 2							96.0	95.0	95.0					11																	65635366		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65635366C>T	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1136G>A	11.37:g.65635366C>T	ENSP00000309953:p.Arg379His					EFEMP2_ENST00000528176.1_Missense_Mutation_p.R379H	p.R379H	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	10	1366	-			379					A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.1136G>A	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153171	0.94645	.	.	ENSG00000172638	ENST00000526911;ENST00000531645;ENST00000528176;ENST00000307998;ENST00000530806	D;D;D;D;T	0.84070	-1.8;-1.55;-1.59;-1.54;-0.85	5.37	5.37	0.77165	.	0.000000	0.53938	D	0.000055	D	0.89880	0.6843	M	0.67953	2.075	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.987	D	0.89631	0.3855	10	0.48119	T	0.1	.	16.5806	0.84714	0.0:1.0:0.0:0.0	.	379;379	E9PRU1;O95967	.;FBLN4_HUMAN	H	38;95;379;379;32	ENSP00000436536:R38H;ENSP00000436521:R95H;ENSP00000434151:R379H;ENSP00000309953:R379H;ENSP00000436526:R32H	ENSP00000309953:R379H	R	-	2	0	EFEMP2	65391942	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	4.605000	0.61119	2.529000	0.85273	0.455000	0.32223	CGT		0.552	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		40	132	0	0	0	1	0	40	132				
BTBD17	388419	broad.mit.edu	37	17	72353354	72353354	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353354G>A	ENST00000375366.3	-	3	1005	c.879C>T	c.(877-879)caC>caT	p.H293H		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	293					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						GCGACGCGGCGTGGAACTGGT	0.731																																						ENST00000375366.3																			0				endometrium(1)|kidney(1)|lung(4)	6						c.(877-879)caC>caT		BTB (POZ) domain containing 17							8.0	10.0	10.0					17																	72353354		2134	4161	6295	SO:0001819	synonymous_variant	388419					extracellular region		g.chr17:72353354G>A		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.879C>T	17.37:g.72353354G>A							p.H293H	NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN			3	1005	-			293						Silent	SNP	ENST00000375366.3	37	c.879C>T	CCDS32719.1																																																																																				0.731	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		16	3	0	0	0	1	0	16	3				
ZMIZ1	57178	broad.mit.edu	37	10	80968196	80968196	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:80968196G>A	ENST00000334512.5	+	6	736	c.164G>A	c.(163-165)gGc>gAc	p.G55D		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	55					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGCCTGATGGGCTGTTTGACG	0.607																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(163-165)gGc>gAc		zinc finger, MIZ-type containing 1							49.0	41.0	43.0					10																	80968196		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:80968196G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.164G>A	10.37:g.80968196G>A	ENSP00000334474:p.Gly55Asp						p.G55D	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		6	736	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		55					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.164G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709183	0.89018	.	.	ENSG00000108175	ENST00000334512;ENST00000394592	T	0.30981	1.51	5.05	5.05	0.67936	.	.	.	.	.	T	0.54351	0.1853	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.964;1.0	P;D	0.97110	0.461;1.0	T	0.57957	-0.7721	9	0.87932	D	0	-15.6541	17.1779	0.86846	0.0:0.0:1.0:0.0	.	55;55	Q9ULJ6;A0JLS3	ZMIZ1_HUMAN;.	D	55	ENSP00000334474:G55D	ENSP00000334474:G55D	G	+	2	0	ZMIZ1	80638202	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.215000	0.95146	2.342000	0.79632	0.462000	0.41574	GGC		0.607	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		4	71	0	0	0	1	0	4	71				
TLR4	7099	broad.mit.edu	37	9	120476694	120476694	+	Missense_Mutation	SNP	G	G	A	rs5030723	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:120476694G>A	ENST00000355622.6	+	3	2389	c.2288G>A	c.(2287-2289)cGt>cAt	p.R763H	TLR4_ENST00000394487.4_Missense_Mutation_p.R723H|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	763	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		R -> H (in dbSNP:rs5030723). {ECO:0000269|PubMed:11514453}.		activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTGAGCAGTCGTGCTGGTATC	0.527													G|||	5	0.000998403	0.0	0.0	5008	,	,		18704	0.0		0.005	False		,,,				2504	0.0					ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(2287-2289)cGt>cAt		toll-like receptor 4		G	HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	69.0	66.0	67.0		2288	-1.5	0.0	9	dbSNP_113	67	16,8584	11.9+/-42.8	0,16,4284	yes	missense	TLR4	NM_138554.3	29	0,24,6479	AA,AG,GG		0.186,0.1816,0.1845	benign	763/840	120476694	24,12982	2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476694G>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2288G>A	9.37:g.120476694G>A	ENSP00000363089:p.Arg763His					TLR4_ENST00000394487.4_Missense_Mutation_p.R723H|TLR4_ENST00000472304.1_3'UTR	p.R763H	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	2389	+			763		R -> H (in dbSNP:rs5030723).	TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.2288G>A	CCDS6818.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	5.043	0.193585	0.09599	0.001816	0.00186	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.02579	4.24;4.24	6.03	-1.48	0.08745	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.689351	0.14465	N	0.317928	T	0.01765	0.0056	L	0.41492	1.28	0.09310	N	1	B	0.20780	0.048	B	0.18263	0.021	T	0.41088	-0.9528	10	0.36615	T	0.2	.	7.3251	0.26551	0.6332:0.1365:0.2303:0.0	rs5030723	763	O00206	TLR4_HUMAN	H	723;763	ENSP00000377997:R723H;ENSP00000363089:R763H	ENSP00000363089:R763H	R	+	2	0	TLR4	119516515	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-0.039000	0.12124	-0.121000	0.11787	-0.136000	0.14681	CGT		0.527	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		5	94	0	0	0	1	0	5	94				
FKBP6	8468	broad.mit.edu	37	7	72754699	72754699	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:72754699C>T	ENST00000252037.4	+	6	717	c.648C>T	c.(646-648)gcC>gcT	p.A216A	FKBP6_ENST00000413573.2_Silent_p.A186A|RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000431982.2_Silent_p.A211A	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	216					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGGTGGAGGCCGCCAAGCTTC	0.572																																						ENST00000252037.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(646-648)gcC>gcT		FK506 binding protein 6, 36kDa							70.0	75.0	73.0					7																	72754699		1976	4155	6131	SO:0001819	synonymous_variant	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72754699C>T	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.648C>T	7.37:g.72754699C>T						FKBP6_ENST00000413573.2_Silent_p.A186A|FKBP6_ENST00000431982.2_Silent_p.A211A	p.A216A	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN			6	717	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	216					B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Silent	SNP	ENST00000252037.4	37	c.648C>T	CCDS43595.1																																																																																				0.572	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		24	112	0	0	0	1	0	24	112				
EPB41L1	2036	broad.mit.edu	37	20	34770234	34770234	+	Silent	SNP	G	G	A	rs139137163	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:34770234G>A	ENST00000338074.2	+	6	692	c.531G>A	c.(529-531)ccG>ccA	p.P177P	EPB41L1_ENST00000373941.1_Silent_p.P177P|EPB41L1_ENST00000202028.5_Silent_p.P115P|EPB41L1_ENST00000373946.3_Silent_p.P146P|EPB41L1_ENST00000441639.1_Silent_p.P115P|EPB41L1_ENST00000373950.2_Silent_p.P80P	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	177	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGTTCTACCCGCCTGATCCTG	0.582																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(529-531)ccG>ccA		erythrocyte membrane protein band 4.1-like 1							99.0	85.0	90.0					20																	34770234		2203	4300	6503	SO:0001819	synonymous_variant	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34770234G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.531G>A	20.37:g.34770234G>A						EPB41L1_ENST00000202028.5_Silent_p.P115P|EPB41L1_ENST00000373941.1_Silent_p.P177P|EPB41L1_ENST00000373946.3_Silent_p.P146P|EPB41L1_ENST00000373950.2_Silent_p.P80P|EPB41L1_ENST00000441639.1_Silent_p.P115P	p.P177P	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			6	692	+	Breast(12;0.0239)		177			FERM.		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	c.531G>A	CCDS13271.1																																																																																				0.582	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		38	69	0	0	0	1	0	38	69				
MICAL3	57553	broad.mit.edu	37	22	18387494	18387494	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:18387494C>T	ENST00000441493.2	-	3	728	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	MICAL3_ENST00000429452.1_Missense_Mutation_p.V126I|MICAL3_ENST00000383094.3_Missense_Mutation_p.V126I|MICAL3_ENST00000414725.2_Missense_Mutation_p.V126I|MICAL3_ENST00000585038.1_Missense_Mutation_p.V126I|MICAL3_ENST00000207726.7_Missense_Mutation_p.V126I|MICAL3_ENST00000444520.1_Missense_Mutation_p.V126I|MICAL3_ENST00000400561.2_Missense_Mutation_p.V126I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	126	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGATGCAAGACGTTGTTGCGG	0.522																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(376-378)Gtc>Atc		microtubule associated monooxygenase, calponin and LIM domain containing 3							209.0	184.0	192.0					22																	18387494		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18387494C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.376G>A	22.37:g.18387494C>T	ENSP00000416015:p.Val126Ile					MICAL3_ENST00000414725.2_Missense_Mutation_p.V126I|MICAL3_ENST00000400561.2_Missense_Mutation_p.V126I|MICAL3_ENST00000585038.1_Missense_Mutation_p.V126I|MICAL3_ENST00000207726.7_Missense_Mutation_p.V126I|MICAL3_ENST00000429452.1_Missense_Mutation_p.V126I|MICAL3_ENST00000383094.3_Missense_Mutation_p.V126I|MICAL3_ENST00000444520.1_Missense_Mutation_p.V126I	p.V126I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	3	728	-		all_epithelial(15;0.198)	126					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.376G>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902219	0.92035	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.62	4.59	0.56863	.	0.054186	0.64402	D	0.000001	T	0.35595	0.0937	L	0.31294	0.92	0.54753	D	0.999987	D;B;P;D;D	0.89917	1.0;0.181;0.888;0.999;0.996	D;B;P;D;D	0.91635	0.999;0.143;0.881;0.999;0.992	T	0.15350	-1.0440	10	0.52906	T	0.07	.	16.5606	0.84565	0.0:0.8694:0.1306:0.0	.	126;126;126;126;126	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	I	126	ENSP00000416015:V126I;ENSP00000414846:V126I;ENSP00000383406:V126I;ENSP00000410315:V126I;ENSP00000391827:V126I;ENSP00000372574:V126I;ENSP00000207726:V126I	ENSP00000207726:V126I	V	-	1	0	XXbac-B461K10.4;MICAL3	16767494	1.000000	0.71417	0.957000	0.39632	0.790000	0.44656	7.818000	0.86416	1.339000	0.45563	-0.176000	0.13171	GTC		0.522	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			36	254	0	0	0	1	0	36	254				
TENM2	57451	broad.mit.edu	37	5	167689238	167689238	+	Missense_Mutation	SNP	C	C	T	rs374910592		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:167689238C>T	ENST00000518659.1	+	29	7787	c.7748C>T	c.(7747-7749)aCg>aTg	p.T2583M	TENM2_ENST00000403607.2_Missense_Mutation_p.T2407M|TENM2_ENST00000545108.1_Missense_Mutation_p.T2582M|TENM2_ENST00000520394.1_Missense_Mutation_p.T2344M|TENM2_ENST00000519204.1_Missense_Mutation_p.T2462M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2583					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CGGGTGACCACGGGCGTGTCC	0.572																																						ENST00000519204.1																			0											c.(7384-7386)aCg>aTg		teneurin transmembrane protein 2		C	MET/THR	0,4090		0,0,2045	30.0	34.0	32.0		7721	5.4	1.0	5		32	1,8409		0,1,4204	no	missense	ODZ2	NM_001122679.1	81	0,1,6249	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	2574/2766	167689238	1,12499	2045	4205	6250	SO:0001583	missense	57451							g.chr5:167689238C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7748C>T	5.37:g.167689238C>T	ENSP00000429430:p.Thr2583Met					TENM2_ENST00000545108.1_Missense_Mutation_p.T2582M|TENM2_ENST00000403607.2_Missense_Mutation_p.T2407M|TENM2_ENST00000518659.1_Missense_Mutation_p.T2583M|TENM2_ENST00000520394.1_Missense_Mutation_p.T2344M	p.T2462M							28	7503	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.7385C>T		.	.	.	.	.	.	.	.	.	.	C	19.41	3.821440	0.71028	0.0	1.19E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90069	-2.14;-2.13;-2.24;-2.59;-2.61	5.42	5.42	0.78866	.	0.045731	0.85682	D	0.000000	D	0.93115	0.7808	L	0.52011	1.625	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.76071	0.987;0.97;0.855	D	0.93359	0.6725	10	0.72032	D	0.01	.	19.5868	0.95493	0.0:1.0:0.0:0.0	.	2582;2583;2344	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	2583;2582;2462;2344;2407	ENSP00000429430:T2583M;ENSP00000438635:T2582M;ENSP00000428964:T2462M;ENSP00000427874:T2344M;ENSP00000384905:T2407M	ENSP00000384905:T2407M	T	+	2	0	ODZ2	167621816	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.580000	0.82523	2.694000	0.91930	0.655000	0.94253	ACG		0.572	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	11	0	0	0	1	0	4	11				
TMEM156	80008	broad.mit.edu	37	4	38990512	38990512	+	Missense_Mutation	SNP	C	C	T	rs572792495		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:38990512C>T	ENST00000381938.3	-	4	805	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	233						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AAGTATTTTGCGGATAGTGAG	0.358																																						ENST00000381938.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(697-699)cGc>cAc		transmembrane protein 156							140.0	141.0	141.0					4																	38990512		2203	4300	6503	SO:0001583	missense	80008					integral to membrane		g.chr4:38990512C>T	AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.698G>A	4.37:g.38990512C>T	ENSP00000371364:p.Arg233His						p.R233H	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN			4	805	-			233					Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	37	c.698G>A	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.932017	0.00488	.	.	ENSG00000121895	ENST00000381938	T	0.22539	1.95	5.51	3.1	0.35709	.	1.202610	0.05548	N	0.566930	T	0.08179	0.0204	N	0.02539	-0.55	0.18873	N	0.999981	B	0.02656	0.0	B	0.01281	0.0	T	0.37126	-0.9719	10	0.12766	T	0.61	2.5177	4.26	0.10737	0.1757:0.0941:0.0:0.7302	.	233	Q8N614	TM156_HUMAN	H	233	ENSP00000371364:R233H	ENSP00000371364:R233H	R	-	2	0	TMEM156	38666907	0.140000	0.22579	0.487000	0.27428	0.023000	0.10783	0.025000	0.13577	0.522000	0.28464	-0.367000	0.07326	CGC		0.358	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943		83	151	0	0	0	1	0	83	151				
LRP1B	53353	broad.mit.edu	37	2	141816539	141816539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:141816539G>A	ENST00000389484.3	-	9	2292	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	441					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTAAATCGGTTTATCCTT	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1321-1323)Cga>Tga		low density lipoprotein receptor-related protein 1B							102.0	105.0	104.0					2																	141816539		2203	4299	6502	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141816539G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1321C>T	2.37:g.141816539G>A	ENSP00000374135:p.Arg441*	TSP Lung(27;0.18)					p.R441*	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	9	2292	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	441					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.1321C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	46	12.902896	0.99705	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.7	2.14	0.27477	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	16.2655	0.82577	0.0:0.0:0.6327:0.3673	.	.	.	.	X	441;379	.	ENSP00000374135:R441X	R	-	1	2	LRP1B	141533009	1.000000	0.71417	0.954000	0.39281	0.884000	0.51177	1.208000	0.32345	0.549000	0.28973	0.462000	0.41574	CGA		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	89	0	0	0	1	0	7	89				
RNF31	55072	broad.mit.edu	37	14	24629769	24629769	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24629769G>A	ENST00000324103.6	+	21	3526	c.3206G>A	c.(3205-3207)cGc>cAc	p.R1069H	RNF31_ENST00000559275.1_Missense_Mutation_p.R918H|RNF31_ENST00000382687.3_Missense_Mutation_p.R918H|IRF9_ENST00000396864.3_5'Flank|IRF9_ENST00000557894.1_5'Flank|RNA5SP383_ENST00000362934.1_RNA|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.R544H	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	1069	LDD domain.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGTATCCCCCGCAGGCGGAAG	0.562											OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000558468.1																			0											c.(1630-1632)cGc>cAc									37.0	43.0	41.0					14																	24629769		1887	4111	5998	SO:0001583	missense	0							g.chr14:24629769G>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.3206G>A	14.37:g.24629769G>A	ENSP00000315112:p.Arg1069His		OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	772	RNF31_ENST00000324103.6_Missense_Mutation_p.R1069H|RNF31_ENST00000559275.1_Missense_Mutation_p.R918H|RNF31_ENST00000382687.3_Missense_Mutation_p.R918H	p.R544H							13	1631	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1631G>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000029	0.93227	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.59772	0.24;0.25	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.73976	0.3656	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.996;0.999	T	0.75187	-0.3406	10	0.87932	D	0	-19.6704	16.4924	0.84205	0.0:0.0:1.0:0.0	.	1069;828;1069;918	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	H	502;1069;918	ENSP00000315112:R1069H;ENSP00000372134:R918H	ENSP00000315112:R1069H	R	+	2	0	RNF31	23699609	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	6.624000	0.74243	2.882000	0.98803	0.655000	0.94253	CGC		0.562	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		22	17	0	0	0	1	0	22	17				
SMYD1	150572	broad.mit.edu	37	2	88387390	88387390	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:88387390G>A	ENST00000419482.2	+	3	409	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SMYD1_ENST00000444564.2_Silent_p.A108A|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	108	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGCTGGCGGCGCGCATCATGT	0.607																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(322-324)gcG>gcA		SET and MYND domain containing 1							27.0	25.0	26.0					2																	88387390		2198	4297	6495	SO:0001819	synonymous_variant	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88387390G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.324G>A	2.37:g.88387390G>A						SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Silent_p.A108A	p.A108A	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			3	409	+			108					A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	c.324G>A	CCDS33240.1																																																																																				0.607	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		14	18	0	0	0	1	0	14	18				
CDH5	1003	broad.mit.edu	37	16	66424460	66424460	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:66424460C>T	ENST00000341529.3	+	6	1084	c.936C>T	c.(934-936)ccC>ccT	p.P312P	CDH5_ENST00000563425.2_Silent_p.P312P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	312	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AGACAAACCCCGCCCACAACG	0.557																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(934-936)ccC>ccT		cadherin 5, type 2 (vascular endothelium)							89.0	77.0	81.0					16																	66424460		2201	4300	6501	SO:0001819	synonymous_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66424460C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.936C>T	16.37:g.66424460C>T						CDH5_ENST00000563425.2_Silent_p.P312P	p.P312P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	6	1084	+		Ovarian(137;0.0955)	312			Cadherin 3.		Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.936C>T	CCDS10804.1																																																																																				0.557	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		53	47	0	0	0	1	0	53	47				
DUSP22	56940	broad.mit.edu	37	6	348938	348938	+	Intron	SNP	C	C	T	rs571363943		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:348938C>T	ENST00000344450.5	+	7	951				DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000605315.1_Missense_Mutation_p.T99M|DUSP22_ENST00000604971.1_Missense_Mutation_p.T99M|DUSP22_ENST00000603453.1_Missense_Mutation_p.T99M|DUSP22_ENST00000419235.2_Missense_Mutation_p.T202M	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GATAATTATACGACGGAGACC	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		37880	0.0		0.0	False		,,,				2504	0.0					ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(295-297)aCg>aTg		dual specificity phosphatase 22																																				SO:0001627	intron_variant	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348938C>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.508+97C>T	6.37:g.348938C>T						DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000419235.2_Missense_Mutation_p.T202M|DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000603453.1_Missense_Mutation_p.T99M|DUSP22_ENST00000605315.1_Missense_Mutation_p.T99M	p.T99M			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	4	1409	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	0			Tyrosine-protein phosphatase.		B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.296C>T	CCDS4468.1																																																																																				0.622	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		12	13	0	0	0	1	0	12	13				
TTN	7273	broad.mit.edu	37	2	179430304	179430304	+	Missense_Mutation	SNP	C	C	T	rs202149931|rs397517716		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179430304C>T	ENST00000591111.1	-	276	75856	c.75632G>A	c.(75631-75633)cGt>cAt	p.R25211H	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R26852H|TTN_ENST00000342992.6_Missense_Mutation_p.R24284H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17979H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17912H|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17787H			Q8WZ42	TITIN_HUMAN	titin	25211	Fibronectin type-III 83. {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)			AGCCTTGACACGGAACTGATA	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22005	0.0		0.0	False		,,,				2504	0.0					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.(80554-80556)cGt>cAt		titin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,3760		0,2,1879	190.0	188.0	189.0		53936,53735,72851,53360	3.7	1.0	2		189	1,8237		0,1,4118	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,3,5997	TT,TC,CC		0.0121,0.0532,0.025	benign,benign,benign,benign	17979/27119,17912/27052,24284/33424,17787/26927	179430304	3,11997	1881	4119	6000	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430304C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75632G>A	2.37:g.179430304C>T	ENSP00000465570:p.Arg25211His					TTN_ENST00000342992.6_Missense_Mutation_p.R24284H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17787H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17979H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17912H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R25211H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.R26852H	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	80779	-			25211			Fibronectin type-III 95.		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.80555G>A		.	.	.	.	.	.	.	.	.	.	C	10.81	1.454795	0.26161	5.32E-4	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.48	3.65	0.41850	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67258	0.2874	H	0.96142	3.775	0.48696	D	0.999696	B;B;B;B	0.29909	0.261;0.261;0.261;0.261	B;B;B;B	0.20184	0.028;0.028;0.028;0.028	T	0.76334	-0.2997	9	0.87932	D	0	.	12.1629	0.54113	0.0:0.8355:0.0:0.1645	.	17787;17912;17979;25211	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	24284;17787;17979;17912;17785	ENSP00000343764:R24284H;ENSP00000434586:R17787H;ENSP00000340554:R17979H;ENSP00000352154:R17912H	ENSP00000340554:R17979H	R	-	2	0	TTN	179138550	0.893000	0.30496	1.000000	0.80357	0.631000	0.37964	1.834000	0.39171	2.589000	0.87451	0.484000	0.47621	CGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		74	193	0	0	0	1	0	74	193				
RYR1	6261	broad.mit.edu	37	19	38974156	38974156	+	Splice_Site	SNP	G	G	A	rs193922778		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38974156G>A	ENST00000359596.3	+	33	4934	c.4934G>A	c.(4933-4935)cGg>cAg	p.R1645Q	RYR1_ENST00000355481.4_Splice_Site_p.R1645Q|RYR1_ENST00000360985.3_Splice_Site_p.R1645Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1645	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAGGAGAACCGGTCAGGGCCA	0.687																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	GRCh37	CS081983	RYR1	S		c.e33+1		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						8.0	8.0	8.0					19																	38974156		2158	4225	6383	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38974156G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4934+1G>A	19.37:g.38974156G>A						RYR1_ENST00000360985.3_Splice_Site_p.R1645_splice|RYR1_ENST00000359596.3_Splice_Site_p.R1645_splice	p.R1645_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		33	5065	+	all_cancers(60;7.91e-06)		1645			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Splice_Site	SNP	ENST00000359596.3	37	c.4934_splice	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248761	0.80024	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97279	-4.32;-4.32;-4.32	5.0	5.0	0.66597	.	0.068370	0.53938	U	0.000057	D	0.98314	0.9441	M	0.78637	2.42	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.78314	0.99;0.991	D	0.99399	1.0927	10	0.66056	D	0.02	.	17.8849	0.88851	0.0:0.0:1.0:0.0	.	1645;1645	P21817-2;P21817	.;RYR1_HUMAN	Q	1645	ENSP00000352608:R1645Q;ENSP00000347667:R1645Q;ENSP00000354254:R1645Q	ENSP00000347667:R1645Q	R	+	2	0	RYR1	43665996	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.772000	0.98984	2.337000	0.79520	0.455000	0.32223	CGG		0.687	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Missense_Mutation	5	5	0	0	0	1	0	5	5				
TYW1B	441250	broad.mit.edu	37	7	72281140	72281140	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:72281140G>A	ENST00000435769.2	-	0	471				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TTGCCAAATCGAAAATCAATG	0.448																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							173.0	156.0	161.0					7																	72281140		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72281140G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72281140G>A										Q6NUM6	TYW1B_HUMAN			0	336	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.448	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		100	132	0	0	0	1	0	100	132				
SPEN	23013	broad.mit.edu	37	1	16202978	16202978	+	Missense_Mutation	SNP	G	G	A	rs139125517		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:16202978G>A	ENST00000375759.3	+	3	890	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	229	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGGGAGGTACGAGGCAGAAGG	0.542																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(685-687)cGa>cAa		spen family transcriptional repressor		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	77.0	77.0		686	5.8	1.0	1	dbSNP_134	77	0,8600		0,0,4300	no	missense	SPEN	NM_015001.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	229/3665	16202978	1,13005	2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16202978G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.686G>A	1.37:g.16202978G>A	ENSP00000364912:p.Arg229Gln					SPEN_ENST00000471538.1_3'UTR	p.R229Q	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	3	890	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	229			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.686G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286192	0.80803	2.27E-4	0.0	ENSG00000065526	ENST00000375759;ENST00000438066;ENST00000375753	T;T	0.38240	2.92;1.15	5.78	5.78	0.91487	.	.	.	.	.	T	0.51210	0.1661	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.47636	-0.9102	9	0.51188	T	0.08	-12.1765	20.0118	0.97458	0.0:0.0:1.0:0.0	.	229	Q96T58	MINT_HUMAN	Q	229;188;188	ENSP00000364912:R229Q;ENSP00000388021:R188Q	ENSP00000364906:R188Q	R	+	2	0	SPEN	16075565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.209000	0.95087	2.744000	0.94065	0.563000	0.77884	CGA		0.542	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		45	95	0	0	0	1	0	45	95				
CADPS2	93664	broad.mit.edu	37	7	121965555	121965555	+	Silent	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:121965555C>G	ENST00000449022.2	-	29	3712	c.3693G>C	c.(3691-3693)ctG>ctC	p.L1231L	RP5-1101C3.1_ENST00000482375.1_RNA|RP5-1101C3.1_ENST00000602199.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Silent_p.L1190L|CADPS2_ENST00000313070.7_Silent_p.L1190L|RP5-1101C3.1_ENST00000602012.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000334010.7_Silent_p.L1229L	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1231					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGAGCGTCTTCAGCTGGTAAA	0.398																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(3685-3687)ctG>ctC		Ca++-dependent secretion activator 2							115.0	101.0	106.0					7																	121965555		1882	4104	5986	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:121965555C>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3693G>C	7.37:g.121965555C>G						CADPS2_ENST00000412584.2_Silent_p.L1190L|CADPS2_ENST00000313070.7_Silent_p.L1190L|CADPS2_ENST00000449022.2_Silent_p.L1231L	p.L1229L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			27	4108	-			1231					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.3687G>C	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.405|7.405	0.633576|0.633576	0.14322|0.14322	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000397721|ENST00000462699	.|.	.|.	.|.	5.96|5.96	5.09|5.09	0.68999|0.68999	.|.	.|.	.|.	.|.	.|.	T|.	0.62804|.	0.2458|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61476|.	-0.7055|.	4|.	.|.	.|.	.|.	-12.1941|-12.1941	11.0421|11.0421	0.47838|0.47838	0.0:0.8596:0.0:0.1404|0.0:0.8596:0.0:0.1404	.|.	.|.	.|.	.|.	Q|S	834|425	.|.	.|.	E|X	-|-	1|2	0|2	CADPS2|CADPS2	121752791|121752791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.969000|1.969000	0.40510|0.40510	1.537000|1.537000	0.49254|0.49254	0.650000|0.650000	0.86243|0.86243	GAA|TGA		0.398	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		8	15	0	0	0	1	0	8	15				
CYP2C18	1562	broad.mit.edu	37	10	96480238	96480238	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:96480238C>T	ENST00000285979.6	+	6	1104	c.905C>T	c.(904-906)aCg>aTg	p.T302M	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.T243M	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	302					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	ACAGAGACAACGAGCACCACT	0.423																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(904-906)aCg>aTg		cytochrome P450, family 2, subfamily C, polypeptide 18							141.0	130.0	134.0					10																	96480238		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96480238C>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.905C>T	10.37:g.96480238C>T	ENSP00000285979:p.Thr302Met					CYP2C18_ENST00000339022.5_Missense_Mutation_p.T243M|CYP2C19_ENST00000464755.1_3'UTR	p.T302M	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	6	1104	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.905C>T	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	c	12.71	2.018311	0.35606	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.78364	-1.17;-1.17	4.2	3.3	0.37823	.	0.131705	0.50627	U	0.000101	D	0.87811	0.6271	M	0.93507	3.425	0.80722	D	1	D;D	0.76494	0.987;0.999	P;D	0.63793	0.672;0.918	D	0.86897	0.2052	10	0.62326	D	0.03	.	6.3186	0.21204	0.0:0.7787:0.0:0.2213	.	243;302	Q4VAT5;P33260	.;CP2CI_HUMAN	M	243;302	ENSP00000341293:T243M;ENSP00000285979:T302M	ENSP00000285979:T302M	T	+	2	0	CYP2C18	96470228	0.857000	0.29778	0.278000	0.24718	0.197000	0.23852	2.432000	0.44784	0.957000	0.37930	0.306000	0.20318	ACG		0.423	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		19	78	0	0	0	1	0	19	78				
OBSCN	84033	broad.mit.edu	37	1	228471282	228471282	+	Missense_Mutation	SNP	C	C	T	rs370871187		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:228471282C>T	ENST00000422127.1	+	33	8860	c.8816C>T	c.(8815-8817)aCg>aTg	p.T2939M	OBSCN_ENST00000570156.2_Missense_Mutation_p.T3368M|OBSCN_ENST00000359599.6_Missense_Mutation_p.T1786M|OBSCN_ENST00000366709.4_Missense_Mutation_p.T58M|OBSCN_ENST00000366707.4_Missense_Mutation_p.T58M|OBSCN_ENST00000284548.11_Missense_Mutation_p.T2939M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2939	Ig-like 29.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGTGCAAGACGGAGCACCCC	0.632																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(10102-10104)aCg>aTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							38.0	44.0	42.0					1																	228471282		2132	4237	6369	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228471282C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8816C>T	1.37:g.228471282C>T	ENSP00000409493:p.Thr2939Met					OBSCN_ENST00000366709.4_Missense_Mutation_p.T58M|OBSCN_ENST00000422127.1_Missense_Mutation_p.T2939M|OBSCN_ENST00000359599.6_Missense_Mutation_p.T1786M|OBSCN_ENST00000366707.4_Missense_Mutation_p.T58M|OBSCN_ENST00000284548.11_Missense_Mutation_p.T2939M	p.T3368M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			38	10177	+		Prostate(94;0.0405)	2402			Ig-like 34.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.10103C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	17.67	3.447725	0.63178	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.069708	0.53938	D	0.000041	T	0.81786	0.4896	M	0.79614	2.46	0.30508	N	0.769726	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.971;0.992;0.988	T	0.80770	-0.1234	10	0.49607	T	0.09	.	16.287	0.82725	0.0:0.8588:0.1412:0.0	.	2939;2939;2939	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	M	2939;2939;58;58;1786;638;345	ENSP00000284548:T2939M;ENSP00000409493:T2939M;ENSP00000355668:T58M;ENSP00000355670:T58M;ENSP00000352613:T1786M	ENSP00000284548:T2939M	T	+	2	0	OBSCN	226537905	1.000000	0.71417	0.678000	0.29963	0.011000	0.07611	6.166000	0.71896	2.673000	0.90976	0.550000	0.68814	ACG		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		30	53	0	0	0	1	0	30	53				
FMNL1	752	broad.mit.edu	37	17	43314943	43314943	+	Silent	SNP	G	G	T	rs373201342		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:43314943G>T	ENST00000331495.3	+	9	1167	c.831G>T	c.(829-831)gcG>gcT	p.A277A	FMNL1_ENST00000328118.3_Silent_p.A277A|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000592006.1_3'UTR|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	277	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGCTGCTGGCGGCCGTGTGCT	0.607																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(829-831)gcG>gcT		formin-like 1							135.0	132.0	133.0					17																	43314943		2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43314943G>T	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.831G>T	17.37:g.43314943G>T						FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.A277A	p.A277A	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			9	1167	+			277			GBD/FH3.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.831G>T	CCDS11497.1																																																																																				0.607	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		181	80	1	0	1.90661e-81	1	1.97246e-81	181	80				
AMOTL1	154810	broad.mit.edu	37	11	94554766	94554766	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:94554766G>A	ENST00000433060.2	+	4	1333	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.A348T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	398					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GACCTCTTCCGCCAGCGGGCC	0.662																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(1192-1194)Gcc>Acc		angiomotin like 1							27.0	33.0	31.0					11																	94554766		2116	4237	6353	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94554766G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1192G>A	11.37:g.94554766G>A	ENSP00000387739:p.Ala398Thr					AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.A348T	p.A398T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			4	1333	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	398					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.1192G>A	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	1.384	-0.582538	0.03827	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	T;T	0.17854	2.26;2.25	5.68	-0.178	0.13303	.	1.097780	0.06817	N	0.791576	T	0.09949	0.0244	L	0.29908	0.895	0.09310	N	1	B;B	0.22003	0.001;0.063	B;B	0.11329	0.001;0.006	T	0.39165	-0.9627	10	0.16896	T	0.51	-8.2725	2.5962	0.04855	0.4456:0.1165:0.3198:0.1181	.	348;398	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	T	348;404;398	ENSP00000320968:A348T;ENSP00000387739:A398T	ENSP00000320968:A348T	A	+	1	0	AMOTL1	94194414	0.000000	0.05858	0.005000	0.12908	0.264000	0.26372	-0.330000	0.07925	0.051000	0.15978	-0.258000	0.10820	GCC		0.662	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		18	25	0	0	0	1	0	18	25				
DCTN1	1639	broad.mit.edu	37	2	74595114	74595114	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74595114G>A	ENST00000361874.3	-	17	2316	c.1999C>T	c.(1999-2001)Cta>Tta	p.L667L	DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Silent_p.L660L|DCTN1_ENST00000409868.1_Silent_p.L650L|DCTN1_ENST00000409567.3_Silent_p.L647L|DCTN1_ENST00000407639.2_Silent_p.L533L|DCTN1_ENST00000409240.1_Silent_p.L630L|DCTN1_ENST00000409438.1_Silent_p.L533L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	667					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TAGCGGTGTAGCGTGGCCTGC	0.607																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(1999-2001)Cta>Tta		dynactin 1							58.0	55.0	56.0					2																	74595114		2203	4300	6503	SO:0001819	synonymous_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74595114G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1999C>T	2.37:g.74595114G>A						DCTN1_ENST00000409567.3_Silent_p.L647L|DCTN1_ENST00000409868.1_Silent_p.L650L|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Silent_p.L630L|DCTN1_ENST00000407639.2_Silent_p.L533L|DCTN1_ENST00000394003.3_Silent_p.L660L|DCTN1_ENST00000409438.1_Silent_p.L533L	p.L667L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			17	2316	-			667					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.1999C>T	CCDS1939.1																																																																																				0.607	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		25	94	0	0	0	1	0	25	94				
EXT2	2132	broad.mit.edu	37	11	44255740	44255740	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:44255740G>C	ENST00000343631.3	+	12	2011	c.1882G>C	c.(1882-1884)Gat>Cat	p.D628H	EXT2_ENST00000533608.1_Missense_Mutation_p.D628H|EXT2_ENST00000395673.3_Missense_Mutation_p.D661H|EXT2_ENST00000358681.4_Missense_Mutation_p.D638H			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	628	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GAACTGTGAAGATATTGCCAT	0.428			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1981-1983)Gat>Cat		exostosin glycosyltransferase 2							112.0	105.0	107.0					11																	44255740		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44255740G>C		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1882G>C	11.37:g.44255740G>C	ENSP00000342656:p.Asp628His					EXT2_ENST00000533608.1_Missense_Mutation_p.D628H|EXT2_ENST00000358681.4_Missense_Mutation_p.D638H|EXT2_ENST00000343631.3_Missense_Mutation_p.D628H	p.D661H	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			12	2037	+			628					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1981G>C	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889560	0.91889	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.64	5.64	0.86602	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.97105	0.9054	M	0.91561	3.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.97386	0.9986	10	0.66056	D	0.02	-15.059	19.7174	0.96129	0.0:0.0:1.0:0.0	.	628;638;638;628;641	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	H	628;638;661;628	ENSP00000431173:D628H;ENSP00000351509:D638H;ENSP00000379032:D661H;ENSP00000342656:D628H	ENSP00000342656:D628H	D	+	1	0	EXT2	44212316	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.869000	0.99810	2.653000	0.90120	0.655000	0.94253	GAT		0.428	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		17	41	0	0	0	1	0	17	41				
PCDHGB4	8641	broad.mit.edu	37	5	140769478	140769478	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140769478G>A	ENST00000519479.1	+	1	2027	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	676					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACTGACCGCCCCGACCCC	0.617																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(2026-2028)cGc>cAc									129.0	140.0	136.0					5																	140769478		2155	4250	6405	SO:0001583	missense	0							g.chr5:140769478G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2027G>A	5.37:g.140769478G>A	ENSP00000428288:p.Arg676His					PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.R676H	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2027	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.2027G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.405307	0.25378	.	.	ENSG00000253953	ENST00000519479	T	0.50813	0.73	5.4	-5.79	0.02354	.	.	.	.	.	T	0.32255	0.0823	L	0.49256	1.55	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.12837	0.008;0.002	T	0.30736	-0.9968	9	0.15066	T	0.55	.	6.4245	0.21762	0.5144:0.0:0.2933:0.1923	.	676;676	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	H	676	ENSP00000428288:R676H	ENSP00000428288:R676H	R	+	2	0	PCDHGB4	140749662	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.187000	0.16998	-1.289000	0.02375	-0.251000	0.11542	CGC		0.617	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		15	279	0	0	0	1	0	15	279				
DNTT	1791	broad.mit.edu	37	10	98064310	98064310	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:98064310C>T	ENST00000371174.2	+	1	158	c.56C>T	c.(55-57)aCg>aTg	p.T19M	DNTT_ENST00000419175.1_Missense_Mutation_p.T19M|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	19					DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.T19M(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CCCCGGCAGACGGGTGCCTTG	0.567																																						ENST00000419175.1																			1	Substitution - Missense(1)	p.T19M(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(55-57)aCg>aTg		DNA nucleotidylexotransferase							50.0	56.0	54.0					10																	98064310		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98064310C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.56C>T	10.37:g.98064310C>T	ENSP00000360216:p.Thr19Met					RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Missense_Mutation_p.T19M	p.T19M	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	1	226	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	19					Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.56C>T	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454495	0.26161	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.11712	2.75;2.75	5.76	-0.974	0.10293	.	0.613982	0.19384	N	0.115597	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.021;0.012	B;B	0.12837	0.008;0.003	T	0.34254	-0.9836	10	0.38643	T	0.18	-2.9864	10.4253	0.44373	0.0:0.2216:0.0:0.7784	.	19;19	P04053-2;P04053	.;TDT_HUMAN	M	19	ENSP00000401169:T19M;ENSP00000360216:T19M	ENSP00000360216:T19M	T	+	2	0	DNTT	98054300	0.012000	0.17670	0.000000	0.03702	0.082000	0.17680	0.057000	0.14279	-0.444000	0.07170	0.655000	0.94253	ACG		0.567	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		21	84	0	0	0	1	0	21	84				
MSLN	10232	broad.mit.edu	37	16	814961	814961	+	Silent	SNP	G	G	A	rs371797682		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:814961G>A	ENST00000382862.3	+	7	530	c.435G>A	c.(433-435)acG>acA	p.T145T	MSLN_ENST00000566549.1_Silent_p.T145T|MSLN_ENST00000563941.1_Silent_p.T145T|MSLN_ENST00000545450.2_Silent_p.T145T	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	145					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)				CCCGCATCACGAAGGCCAATG	0.701																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(433-435)acG>acA		mesothelin		G	,,	1,4361	2.1+/-5.4	0,1,2180	30.0	31.0	30.0		435,435,435	-5.0	0.0	16		30	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	,,	0,1,6472	AA,AG,GG		0.0,0.0229,0.0077	,,	145/623,145/623,145/631	814961	1,12945	2181	4292	6473	SO:0001819	synonymous_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:814961G>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.435G>A	16.37:g.814961G>A						MSLN_ENST00000382862.3_Silent_p.T145T|MSLN_ENST00000563941.1_Silent_p.T145T|MSLN_ENST00000545450.2_Silent_p.T145T	p.T145T			Q13421	MSLN_HUMAN			7	852	+		Hepatocellular(780;0.00335)	145					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	c.435G>A	CCDS32356.1																																																																																				0.701	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			11	34	0	0	0	1	0	11	34				
CDK5RAP2	55755	broad.mit.edu	37	9	123215886	123215886	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123215886C>T	ENST00000349780.4	-	21	2820	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D849N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	881					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCAGCAGGTCGCCCTCCGTG	0.552																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(2641-2643)Gac>Aac		CDK5 regulatory subunit associated protein 2							149.0	133.0	138.0					9																	123215886		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123215886C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2641G>A	9.37:g.123215886C>T	ENSP00000343818:p.Asp881Asn					CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D849N	p.D881N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			21	2820	-			881					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.2641G>A	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	9.920	1.211816	0.22289	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	T;T;T;T;T	0.16457	4.02;3.94;4.0;3.91;2.34	5.6	-3.08	0.05347	.	1.420530	0.04150	N	0.321126	T	0.05640	0.0148	N	0.19112	0.55	0.09310	N	1	B;P;B;B	0.51791	0.086;0.948;0.052;0.086	B;B;B;B	0.34418	0.008;0.182;0.003;0.008	T	0.30592	-0.9973	10	0.05436	T	0.98	.	1.2075	0.01898	0.2559:0.1842:0.1155:0.4444	.	650;881;881;275	Q6MZT4;Q96SN8-4;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	N	849;881;881;881;275	ENSP00000354065:D849N;ENSP00000352258:D881N;ENSP00000343818:D881N;ENSP00000353317:D881N;ENSP00000400395:D275N	ENSP00000343818:D881N	D	-	1	0	CDK5RAP2	122255707	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.304000	0.02741	-0.229000	0.09854	-0.145000	0.13849	GAC		0.552	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		101	158	0	0	0	1	0	101	158				
ZNF783	100289678	broad.mit.edu	37	7	148963729	148963729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:148963729C>T	ENST00000434415.1	+	2	491	c.328C>T	c.(328-330)Cag>Tag	p.Q110*		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CGGGCTGCTGCAGAGGCGGCT	0.647																																						ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(328-330)Cag>Tag		zinc finger family member 783							65.0	74.0	71.0					7																	148963729		2203	4300	6503	SO:0001587	stop_gained	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148963729C>T	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.328C>T	7.37:g.148963729C>T	ENSP00000410890:p.Gln110*						p.Q110*	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		2	491	+	Melanoma(164;0.15)		110					C9J9J2	Nonsense_Mutation	SNP	ENST00000434415.1	37	c.328C>T	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	C	37	6.394094	0.97533	.	.	ENSG00000204946	ENST00000434415	.	.	.	4.8	4.8	0.61643	.	0.000000	0.31484	N	0.007570	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.0906	13.3468	0.60578	0.0:1.0:0.0:0.0	.	.	.	.	X	110	.	ENSP00000367291:Q110X	Q	+	1	0	ZNF783	148594662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.533000	0.60615	2.217000	0.71921	0.561000	0.74099	CAG		0.647	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		9	232	0	0	0	1	0	9	232				
PI15	51050	broad.mit.edu	37	8	75737579	75737579	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:75737579C>T	ENST00000260113.2	+	2	274	c.95C>T	c.(94-96)cCg>cTg	p.P32L	PI15_ENST00000523773.1_Missense_Mutation_p.P32L|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	32						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.P32Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GACTCATCCCCGCCAACCAAT	0.478																																						ENST00000260113.2																			1	Substitution - Missense(1)	p.P32Q(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.(94-96)cCg>cTg		peptidase inhibitor 15							150.0	144.0	146.0					8																	75737579		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75737579C>T	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.95C>T	8.37:g.75737579C>T	ENSP00000260113:p.Pro32Leu					PI15_ENST00000523773.1_Missense_Mutation_p.P32L|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	p.P32L	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		2	274	+	Breast(64;0.137)		32					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.95C>T	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	2.900	-0.227609	0.06022	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.06933	3.24;3.24	4.77	3.88	0.44766	.	0.725062	0.13590	N	0.376686	T	0.02304	0.0071	N	0.00926	-1.1	0.30860	N	0.733588	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	10	0.09084	T	0.74	.	5.939	0.19181	0.0:0.6496:0.1621:0.1882	.	32	O43692	PI15_HUMAN	L	32	ENSP00000260113:P32L;ENSP00000428567:P32L	ENSP00000260113:P32L	P	+	2	0	PI15	75900134	0.947000	0.32204	1.000000	0.80357	0.996000	0.88848	0.583000	0.23849	1.351000	0.45789	0.561000	0.74099	CCG		0.478	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		57	93	0	0	0	1	0	57	93				
KIAA1804	84451	broad.mit.edu	37	1	233497841	233497841	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:233497841C>G	ENST00000366624.3	+	5	1615	c.1354C>G	c.(1354-1356)Cag>Gag	p.Q452E	MLK4_ENST00000366623.3_Missense_Mutation_p.Q452E	NM_032435.2	NP_115811.2																					GGCGGCTCTGCAGCAGAAGTC	0.582																																						ENST00000366624.3																			0											c.(1354-1356)Cag>Gag									21.0	25.0	24.0					1																	233497841		2203	4300	6503	SO:0001583	missense	0							g.chr1:233497841C>G																												ENST00000366624.3:c.1354C>G	1.37:g.233497841C>G	ENSP00000355583:p.Gln452Glu					MLK4_ENST00000366623.3_Missense_Mutation_p.Q452E	p.Q452E	NM_032435.2	NP_115811.2					5	1615	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.1354C>G	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	6.922	0.539875	0.13250	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.74737	-0.81;-0.87	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000001	T	0.58264	0.2110	L	0.28740	0.885	0.80722	D	1	B;B	0.22003	0.063;0.005	B;B	0.17722	0.019;0.013	T	0.53676	-0.8405	10	0.02654	T	1	.	13.6874	0.62524	0.0:0.8454:0.1546:0.0	.	452;452	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	E	452	ENSP00000355582:Q452E;ENSP00000355583:Q452E	ENSP00000355582:Q452E	Q	+	1	0	RP5-862P8.2	231564464	1.000000	0.71417	0.993000	0.49108	0.907000	0.53573	4.680000	0.61656	2.465000	0.83290	0.655000	0.94253	CAG		0.582	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			3	49	0	0	0	1	0	3	49				
MYO18B	84700	broad.mit.edu	37	22	26164580	26164580	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26164580A>G	ENST00000407587.2	+	4	866	c.697A>G	c.(697-699)Aaa>Gaa	p.K233E	MYO18B_ENST00000536101.1_Missense_Mutation_p.K233E|MYO18B_ENST00000335473.7_Missense_Mutation_p.K233E			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	233						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCACTGAAAAAAGGCGAGGA	0.617																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(697-699)Aaa>Gaa		myosin XVIIIB							31.0	35.0	34.0					22																	26164580		1882	4094	5976	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164580A>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.697A>G	22.37:g.26164580A>G	ENSP00000386096:p.Lys233Glu					MYO18B_ENST00000407587.2_Missense_Mutation_p.K233E|MYO18B_ENST00000536101.1_Missense_Mutation_p.K233E	p.K233E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	947	+			233					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.697A>G		.	.	.	.	.	.	.	.	.	.	a	16.24	3.067667	0.55539	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.91180	-2.77;-2.77;-2.8	4.73	1.33	0.21861	.	0.000000	0.33813	U	0.004531	T	0.79868	0.4520	N	0.19112	0.55	0.09310	N	1	B;B;B	0.15141	0.007;0.012;0.012	B;B;B	0.13407	0.004;0.009;0.009	T	0.66642	-0.5872	10	0.45353	T	0.12	.	5.1235	0.14873	0.5491:0.2864:0.1645:0.0	.	233;233;233	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	E	233	ENSP00000441229:K233E;ENSP00000334563:K233E;ENSP00000386096:K233E	ENSP00000334563:K233E	K	+	1	0	MYO18B	24494580	0.155000	0.22806	0.000000	0.03702	0.185000	0.23345	1.842000	0.39250	-0.082000	0.12640	0.248000	0.18094	AAA		0.617	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	16	0	0	0	1	0	4	16				
PYDC1	260434	broad.mit.edu	37	16	31230620	31230620	+	5'Flank	SNP	G	G	A	rs201331213	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31230620G>A	ENST00000302964.3	-	0	0				TRIM72_ENST00000322122.3_Missense_Mutation_p.R166H|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GAGACAGTGCGTCAGTTCCGG	0.647													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17477	0.001		0.0	False		,,,				2504	0.0					ENST00000322122.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						c.(496-498)cGt>cAt		tripartite motif containing 72							48.0	52.0	50.0					16																	31230620		2197	4300	6497	SO:0001631	upstream_gene_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31230620G>A		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31230620G>A	Exception_encountered						p.R166H	NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN			4	781	+			166					B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.497G>A	CCDS10710.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.909	0.958253	0.18507	.	.	ENSG00000177238	ENST00000322122	T	0.64618	-0.11	5.37	3.39	0.38822	.	0.416376	0.22060	N	0.065196	T	0.48786	0.1519	L	0.53249	1.67	0.24096	N	0.995899	P	0.43662	0.814	B	0.35859	0.212	T	0.50013	-0.8877	10	0.56958	D	0.05	.	4.4822	0.11773	0.0815:0.2623:0.5128:0.1434	.	166	Q6ZMU5	TRI72_HUMAN	H	166	ENSP00000312675:R166H	ENSP00000312675:R166H	R	+	2	0	TRIM72	31138121	0.271000	0.24162	0.305000	0.25099	0.122000	0.20287	0.991000	0.29654	0.622000	0.30249	-0.182000	0.12963	CGT		0.647	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		40	134	0	0	0	1	0	40	134				
TNRC6B	23112	broad.mit.edu	37	22	40662440	40662440	+	Missense_Mutation	SNP	C	C	T	rs570227678	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40662440C>T	ENST00000454349.2	+	5	2417	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.R736C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	736	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GGGAGGTGGACGCCAGCCCAA	0.502													C|||	10	0.00199681	0.0	0.0	5008	,	,		19095	0.0		0.0	False		,,,				2504	0.0102					ENST00000454349.2																			0				breast(1)	1						c.(2206-2208)Cgc>Tgc		trinucleotide repeat containing 6B							34.0	35.0	35.0					22																	40662440		1907	4123	6030	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662440C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2206C>T	22.37:g.40662440C>T	ENSP00000401946:p.Arg736Cys					TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.R736C|TNRC6B_ENST00000402203.1_Intron	p.R736C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	2417	+			736					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.2206C>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109066	0.37242	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.12569	2.67;2.68	4.94	4.94	0.65067	.	0.190783	0.47093	D	0.000247	T	0.25005	0.0607	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.988;0.952;0.968	T	0.06232	-1.0838	10	0.59425	D	0.04	-4.4187	18.3377	0.90294	0.0:1.0:0.0:0.0	.	736;736;736	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	C	736	ENSP00000401946:R736C;ENSP00000338371:R736C	ENSP00000338371:R736C	R	+	1	0	TNRC6B	38992386	1.000000	0.71417	0.996000	0.52242	0.807000	0.45602	2.423000	0.44705	2.575000	0.86900	0.561000	0.74099	CGC		0.502	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				9	21	0	0	0	1	0	9	21				
TIE1	7075	broad.mit.edu	37	1	43779639	43779639	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43779639G>A	ENST00000372476.3	+	14	2488	c.2409G>A	c.(2407-2409)tcG>tcA	p.S803S	TIE1_ENST00000433781.2_Splice_Site_p.S448S|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	803					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTCAGGCTCGGTCAGTGACC	0.577																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.e14+1		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							47.0	43.0	44.0					1																	43779639		2203	4300	6503	SO:0001630	splice_region_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43779639G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2409+1G>A	1.37:g.43779639G>A						TIE1_ENST00000433781.2_Splice_Site_p.S448_splice|TIE1_ENST00000473014.1_3'UTR	p.S803_splice	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			14	2488	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	803					B5A949|B5A950	Splice_Site	SNP	ENST00000372476.3	37	c.2409_splice	CCDS482.1																																																																																				0.577	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	Silent	27	44	0	0	0	1	0	27	44				
SLC38A10	124565	broad.mit.edu	37	17	79256073	79256073	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79256073C>T	ENST00000374759.3	-	5	800	c.417G>A	c.(415-417)ccG>ccA	p.P139P	SLC38A10_ENST00000288439.5_Silent_p.P139P|SLC38A10_ENST00000546352.1_5'Flank	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	139					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCAGGCTGAGCGGGAGCACGA	0.662																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(415-417)ccG>ccA		solute carrier family 38, member 10							95.0	73.0	80.0					17																	79256073		2203	4300	6503	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79256073C>T	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.417G>A	17.37:g.79256073C>T						SLC38A10_ENST00000288439.5_Silent_p.P139P	p.P139P	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		5	800	-	all_neural(118;0.0804)|Melanoma(429;0.242)		139					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.417G>A	CCDS42397.1																																																																																				0.662	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		10	58	0	0	0	1	0	10	58				
SEMA6C	10500	broad.mit.edu	37	1	151105813	151105813	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151105813C>T	ENST00000341697.3	-	19	3631	c.1940G>A	c.(1939-1941)cGc>cAc	p.R647H	SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	647					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGAGAGGGCGCGGGAGCCC	0.726																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1939-1941)cGc>cAc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							12.0	17.0	15.0					1																	151105813		2180	4265	6445	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151105813C>T	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1940G>A	1.37:g.151105813C>T	ENSP00000344148:p.Arg647His						p.R647H			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3631	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		647					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1940G>A	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467314	0.63625	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	3.89	3.89	0.44902	.	1.906560	0.02651	N	0.106464	T	0.63815	0.2543	L	0.28400	0.85	0.33612	D	0.603726	D;P;D	0.89917	1.0;0.608;0.999	D;B;D	0.79784	0.993;0.119;0.984	T	0.58418	-0.7640	10	0.18276	T	0.48	.	13.4236	0.61011	0.0:1.0:0.0:0.0	.	639;679;647	Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	H	647;639;679;647	ENSP00000357910:R647H;ENSP00000357908:R639H;ENSP00000357909:R679H;ENSP00000344148:R647H	ENSP00000344148:R647H	R	-	2	0	SEMA6C	149372437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.824000	0.48088	1.999000	0.58509	0.561000	0.74099	CGC		0.726	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		11	25	0	0	0	1	0	11	25				
SMARCC2	6601	broad.mit.edu	37	12	56568511	56568511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56568511G>A	ENST00000267064.4	-	16	1506	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.R474*|SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.R474*|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Nonsense_Mutation_p.R474*	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	474	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGTTCAGTCGGTAAGTGTCA	0.468																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(1420-1422)Cga>Tga		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							120.0	122.0	122.0					12																	56568511		2203	4300	6503	SO:0001587	stop_gained	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56568511G>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1420C>T	12.37:g.56568511G>A	ENSP00000267064:p.Arg474*					SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.R474*|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.R474*|SMARCC2_ENST00000267064.4_Nonsense_Mutation_p.R474*|RP11-977G19.5_ENST00000553176.1_RNA	p.R474*	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		16	1525	-			474			SWIRM.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Nonsense_Mutation	SNP	ENST00000267064.4	37	c.1420C>T	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	37	6.369761	0.97511	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	.	.	.	4.15	3.24	0.37175	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9239	10.9948	0.47569	0.0:0.0:0.6435:0.3565	.	.	.	.	X	474	.	ENSP00000267064:R474X	R	-	1	2	SMARCC2	54854778	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.618000	0.54188	1.303000	0.44873	0.563000	0.77884	CGA		0.468	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			30	166	0	0	0	1	0	30	166				
ESRRB	2103	broad.mit.edu	37	14	76905826	76905826	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:76905826G>A	ENST00000509242.1	+	3	228	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	ESRRB_ENST00000380887.2_Missense_Mutation_p.G44S|ESRRB_ENST00000261532.7_Missense_Mutation_p.G44S|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.G44S	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	44					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CGCCAGCGGCGGCTTTGGCCT	0.692																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(130-132)Ggc>Agc		estrogen-related receptor beta							22.0	24.0	23.0					14																	76905826		2184	4273	6457	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76905826G>A	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.130G>A	14.37:g.76905826G>A	ENSP00000422488:p.Gly44Ser					ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.G44S|ESRRB_ENST00000556177.1_Missense_Mutation_p.G44S|ESRRB_ENST00000509242.1_Missense_Mutation_p.G44S	p.G44S			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	2	202	+			44					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.130G>A	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	G	7.563	0.665156	0.14710	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.92397	-3.03;-3.03;-3.0;-3.03;-3.02	5.13	4.2	0.49525	.	0.050091	0.85682	N	0.000000	T	0.78704	0.4325	N	0.05230	-0.09	0.58432	D	0.999999	B;B	0.31949	0.314;0.348	B;B	0.28784	0.094;0.094	T	0.72928	-0.4143	10	0.12430	T	0.62	.	8.8145	0.34987	0.1791:0.0:0.8209:0.0	.	44;49	Q5F0P7;E7EWD9	.;.	S	49;44;44;44;44	ENSP00000424992:G49S;ENSP00000422488:G44S;ENSP00000451658:G44S;ENSP00000370270:G44S;ENSP00000261532:G44S	ENSP00000261532:G44S	G	+	1	0	ESRRB	75975579	1.000000	0.71417	0.872000	0.34217	0.874000	0.50279	4.894000	0.63206	1.078000	0.41014	0.655000	0.94253	GGC		0.692	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			50	20	0	0	0	1	0	50	20				
ZZEF1	23140	broad.mit.edu	37	17	3999984	3999984	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:3999984C>T	ENST00000381638.2	-	10	1807	c.1683G>A	c.(1681-1683)acG>acA	p.T561T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	561							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCCAGTTTCCGTAAGAAAAC	0.368																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(1681-1683)acG>acA		zinc finger, ZZ-type with EF-hand domain 1							75.0	82.0	80.0					17																	3999984		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3999984C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1683G>A	17.37:g.3999984C>T						ZZEF1_ENST00000574474.1_5'UTR	p.T561T	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			10	1807	-			561					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.1683G>A	CCDS11043.1																																																																																				0.368	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		89	27	0	0	0	1	0	89	27				
ZBTB48	3104	broad.mit.edu	37	1	6647351	6647354	+	Splice_Site	DEL	AGTA	AGTA	-	rs199796538		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6647351_6647354delAGTA	ENST00000377674.4	+	6	1382	c.1224delAGTA	c.(1222-1224)gca>gc	p.A408fs		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	408					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AGCCCCATGCAGTAAGTGACAGGG	0.564																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	ENST00000377674.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.e6+1		zinc finger and BTB domain containing 48																																				SO:0001630	splice_region_variant	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6647351_6647354delAGTA	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1224+1AGTA>-	1.37:g.6647351_6647354delAGTA							p.408_splice	NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	6	1382	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	408					Q5SY19	Splice_Site	DEL	ENST00000377674.4	37	c.1224_splice	CCDS84.1																																																																																				0.564	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341	Frame_Shift_Del	9	66						9	66	---	---	---	---
PHF13	148479	broad.mit.edu	37	1	6680127	6680128	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6680127_6680128insG	ENST00000377648.4	+	3	788_789	c.406_407insG	c.(406-408)aggfs	p.R136fs	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	136					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGGGGTACAGGGGGGGCTTG	0.604																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(406-408)gggfs		PHD finger protein 13																																				SO:0001589	frameshift_variant	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680127_6680128insG	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.413dupG	1.37:g.6680134_6680134dupG	ENSP00000366876:p.Arg136fs					PHF13_ENST00000495385.1_Intron	p.G136fs	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	788_789	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	136					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Frame_Shift_Ins	INS	ENST00000377648.4	37	c.406_407insG	CCDS85.1																																																																																				0.604	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		17	153						17	153	---	---	---	---
CLIC4	25932	broad.mit.edu	37	1	25167273	25167273	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:25167273delA	ENST00000374379.4	+	6	804	c.607delA	c.(607-609)aaafs	p.K204fs		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	204	GST C-terminal.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		GGTGGTGGCCAAAAAATATCG	0.373																																						ENST00000374379.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(607-609)aafs		chloride intracellular channel 4							100.0	99.0	100.0					1																	25167273		2203	4300	6503	SO:0001589	frameshift_variant	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25167273delA	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.607delA	1.37:g.25167273delA	ENSP00000363500:p.Lys204fs						p.K204fs	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	6	804	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	204			GST C-terminal.		Q9UFW9|Q9UQJ6	Frame_Shift_Del	DEL	ENST00000374379.4	37	c.607delA	CCDS256.1																																																																																				0.373	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		63	108						63	108	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27088659	27088659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:27088659delC	ENST00000324856.7	+	7	2639	c.2268delC	c.(2266-2268)aacfs	p.N756fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.N373fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.N756fs|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	756					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGCAGAGGAACCCCCAGATGC	0.512			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2266-2268)aafs		AT rich interactive domain 1A (SWI-like)							86.0	92.0	90.0					1																	27088659		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27088659delC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2268delC	1.37:g.27088659delC	ENSP00000320485:p.Asn756fs					ARID1A_ENST00000457599.2_Frame_Shift_Del_p.N756fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.N373fs	p.N756fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	7	2639	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	756					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.2268delC	CCDS285.1																																																																																				0.512	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		13	225						13	225	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35365314	35365314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:35365314delG	ENST00000373347.1	-	5	1610	c.1342delC	c.(1342-1344)cggfs	p.R448fs	DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.R448fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	448					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				ATGGAGCTCCGGGGGTGGATC	0.577																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(1342-1344)ggfs		discs, large (Drosophila) homolog-associated protein 3							77.0	84.0	81.0					1																	35365314		2203	4300	6503	SO:0001589	frameshift_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35365314delG	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1342delC	1.37:g.35365314delG	ENSP00000362444:p.Arg448fs					DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.R448fs	p.R448fs			O95886	DLGP3_HUMAN			5	1610	-		Myeloproliferative disorder(586;0.0393)	448					Q5TDD5|Q9H3X7	Frame_Shift_Del	DEL	ENST00000373347.1	37	c.1342delC	CCDS30670.1																																																																																				0.577	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		31	205						31	205	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	45110396	45110397	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:45110396_45110397delAA	ENST00000355387.2	+	9	1603_1604	c.1153_1154delAA	c.(1153-1155)aaafs	p.K385fs	RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000361799.2_Frame_Shift_Del_p.K385fs|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000443020.2_Frame_Shift_Del_p.K172fs|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000372247.2_Frame_Shift_Del_p.K385fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	385					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GTGCAGCGGCAAAGAGAACCCG	0.599																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(1153-1155)afs		ring finger protein 220																																				SO:0001589	frameshift_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45110396_45110397delAA	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1153_1154delAA	1.37:g.45110396_45110397delAA	ENSP00000347548:p.Lys385fs					TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000480686.1_3'UTR|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000443020.2_Frame_Shift_Del_p.K172fs|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000372247.2_Frame_Shift_Del_p.K385fs|RNF220_ENST00000361799.2_Frame_Shift_Del_p.K385fs	p.K385fs			Q5VTB9	RN220_HUMAN			9	1603_1604	+			385					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Frame_Shift_Del	DEL	ENST00000355387.2	37	c.1153_1154delAA	CCDS510.1																																																																																				0.599	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		49	115						49	115	---	---	---	---
C1orf168	199920	broad.mit.edu	37	1	57192198	57192199	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:57192198_57192199insT	ENST00000343433.6	-	16	1931_1932	c.1851_1852insA	c.(1849-1854)aaagagfs	p.E618fs	C1orf168_ENST00000484327.1_5'Flank	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	618										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCGTTTTTCTCTTTTTTTTCCT	0.376																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(1849-1854)aaagaafs		chromosome 1 open reading frame 168				1,4265		0,1,2132						1.8	0.0			130	0,8254		0,0,4127	no	frameshift	C1orf168	NM_001004303.4		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080				1,12519				SO:0001589	frameshift_variant	199920							g.chr1:57192198_57192199insT	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1852dupA	1.37:g.57192206_57192206dupT	ENSP00000345972:p.Glu618fs						p.E618fs	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			16	1931_1932	-			618					Q63HM3|Q6ZUY6	Frame_Shift_Ins	INS	ENST00000343433.6	37	c.1851_1852insA	CCDS30729.1																																																																																				0.376	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		19	109						19	109	---	---	---	---
DBT	1629	broad.mit.edu	37	1	100684291	100684293	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:100684291_100684293delTCT	ENST00000370132.4	-	5	457_459	c.444_446delAGA	c.(442-447)gaagat>gat	p.E148del	DBT_ENST00000370131.3_In_Frame_Del_p.E148del	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	148					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTCAACAACATCTTCTTCTGAAT	0.384																																						ENST00000370132.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(442-447)gat>ga		dihydrolipoamide branched chain transacylase E2																																				SO:0001651	inframe_deletion	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100684291_100684293delTCT	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.444_446delAGA	1.37:g.100684297_100684299delTCT	ENSP00000359151:p.Glu148del					DBT_ENST00000370131.3_In_Frame_Del_p.ED148del	p.ED148del	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	5	457_459	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	148					B2R811|Q5VVL8	In_Frame_Del	DEL	ENST00000370132.4	37	c.444_446delAGA	CCDS767.1																																																																																				0.384	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		69	136						69	136	---	---	---	---
LCE1A	353131	broad.mit.edu	37	1	152800020	152800020	+	Frame_Shift_Del	DEL	C	C	-	rs4990424		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152800020delC	ENST00000335123.2	+	1	72	c.72delC	c.(70-72)tgcfs	p.C24fs		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	24	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctcccaagtgccccactccta	0.652																																						ENST00000335123.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(70-72)tgfs		late cornified envelope 1A							56.0	62.0	60.0					1																	152800020		2203	4300	6503	SO:0001589	frameshift_variant	353131				keratinization			g.chr1:152800020delC		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.72delC	1.37:g.152800020delC	ENSP00000334869:p.Cys24fs						p.C24fs	NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	72	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		24			Cys-rich.			Frame_Shift_Del	DEL	ENST00000335123.2	37	c.72delC	CCDS1028.1																																																																																				0.652	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		41	154						41	154	---	---	---	---
HCN3	57657	broad.mit.edu	37	1	155258080	155258081	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:155258080_155258081delCT	ENST00000368358.3	+	8	2159_2160	c.2151_2152delCT	c.(2149-2154)ccctctfs	p.S718fs	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	718	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCCCAACCCTCTCTGCCTCA	0.698																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2149-2154)ccctfs		hyperpolarization activated cyclic nucleotide-gated potassium channel 3																																				SO:0001589	frameshift_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155258080_155258081delCT	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.2151_2152delCT	1.37:g.155258084_155258085delCT	ENSP00000357342:p.Ser718fs					HCN3_ENST00000496230.1_3'UTR	p.PS717fs	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	2159_2160	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		717			Pro-rich.		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Frame_Shift_Del	DEL	ENST00000368358.3	37	c.2151_2152delCT	CCDS1108.1																																																																																				0.698	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		13	50						13	50	---	---	---	---
IARS2	55699	broad.mit.edu	37	1	220307791	220307791	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220307791delG	ENST00000302637.5	+	15	1989	c.1885delG	c.(1885-1887)gggfs	p.G630fs	snoU13_ENST00000459443.1_RNA|IARS2_ENST00000366922.1_Frame_Shift_Del_p.G558fs	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	630					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AGACCAGCTCGGGGGTTGGTT	0.383																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1669-1671)ggfs		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						81.0	79.0	80.0					1																	220307791		2203	4300	6503	SO:0001589	frameshift_variant	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220307791delG	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1885delG	1.37:g.220307791delG	ENSP00000303279:p.Gly630fs					IARS2_ENST00000302637.5_Frame_Shift_Del_p.G630fs	p.G558fs			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	15	2000	+			630					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Frame_Shift_Del	DEL	ENST00000302637.5	37	c.1669delG	CCDS1523.1																																																																																				0.383	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		8	147						8	147	---	---	---	---
QRSL1P2	100422330	broad.mit.edu	37	1	222435596	222435596	+	lincRNA	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:222435596delT	ENST00000416510.1	-	0	167																											ATTTTCATAGTTTTTTTTAAC	0.373																																						ENST00000416510.1																			0																																																			0							g.chr1:222435596delT																													1.37:g.222435596delT														0	167	-									RNA	DEL	ENST00000416510.1	37																																																																																						0.373	RP11-400N13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000090767.1			10	22						10	22	---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223176292	223176293	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:223176292_223176293delTG	ENST00000284476.6	+	8	1717_1718	c.1553_1554delTG	c.(1552-1554)atgfs	p.M518fs		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	518	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTTTTAGTTATGTGTGTCTACA	0.361																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1552-1554)afs		dispatched homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176292_223176293delTG	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1553_1554delTG	1.37:g.223176296_223176297delTG	ENSP00000284476:p.Met518fs						p.M518fs	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1717_1718	+			518			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Frame_Shift_Del	DEL	ENST00000284476.6	37	c.1553_1554delTG	CCDS1536.1																																																																																				0.361	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		30	143						30	143	---	---	---	---
PFN4	375189	broad.mit.edu	37	2	24344101	24344103	+	In_Frame_Del	DEL	CTT	CTT	-	rs555639473		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:24344101_24344103delCTT	ENST00000313213.4	-	3	556_558	c.185_187delAAG	c.(184-189)gaagga>gga	p.E62del	FAM228B_ENST00000407625.1_5'Flank|PFN4_ENST00000465360.1_5'UTR|FAM228B_ENST00000420135.2_5'Flank	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	62					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATACAGTCCTTCTCTTCGGGC	0.453																																						ENST00000313213.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						c.(184-189)gga>g		profilin family, member 4																																				SO:0001651	inframe_deletion	375189				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding	g.chr2:24344101_24344103delCTT	BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.185_187delAAG	2.37:g.24344101_24344103delCTT	ENSP00000322170:p.Glu62del					PFN4_ENST00000465360.1_5'UTR	p.EG62del	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN			3	556_558	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		62					Q53TL9	In_Frame_Del	DEL	ENST00000313213.4	37	c.185_187delAAG	CCDS1709.1																																																																																				0.453	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207617.2	NM_199346		93	103						93	103	---	---	---	---
RP11-481J13.1	0	broad.mit.edu	37	2	56216156	56216157	+	lincRNA	DEL	CA	CA	-	rs370221981		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:56216156_56216157delCA	ENST00000606639.1	+	0	82				MIR216A_ENST00000385063.1_RNA|AC011306.2_ENST00000446139.1_lincRNA																							ATGAACATCTCACAGTTGCCAG	0.48																																						ENST00000606639.1																			0																																																			0							g.chr2:56216156_56216157delCA																													2.37:g.56216158_56216159delCA						AC011306.2_ENST00000446139.1_lincRNA|MIR216A_ENST00000385063.1_RNA								0	82	+									RNA	DEL	ENST00000606639.1	37																																																																																						0.480	RP11-481J13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470754.1			69	140						69	140	---	---	---	---
VPS54	51542	broad.mit.edu	37	2	64199337	64199339	+	In_Frame_Del	DEL	AGG	AGG	-	rs377413431		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:64199337_64199339delAGG	ENST00000272322.4	-	4	572_574	c.418_420delCCT	c.(418-420)cctdel	p.P140del	VPS54_ENST00000354504.3_In_Frame_Del_p.P23del|VPS54_ENST00000409558.4_In_Frame_Del_p.P128del			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	140					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.P140T(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AGGTATCTTTAGGAGGACAAATA	0.286																																						ENST00000354504.3																			1	Substitution - Missense(1)	p.P140T(1)	ovary(1)	endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(67-69)del		vacuolar protein sorting 54 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64199337_64199339delAGG	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.418_420delCCT	2.37:g.64199340_64199342delAGG	ENSP00000272322:p.Pro140del					VPS54_ENST00000409558.3_In_Frame_Del_p.P128del|VPS54_ENST00000272322.4_In_Frame_Del_p.P140del	p.P23del			Q9P1Q0	VPS54_HUMAN			2	656_658	-			140					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	In_Frame_Del	DEL	ENST00000272322.4	37	c.67_69delCCT	CCDS33208.1																																																																																				0.286	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		14	47						14	47	---	---	---	---
FAHD2B	151313	broad.mit.edu	37	2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:97749725delG	ENST00000414820.1	-	8	1112	c.842delC	c.(841-843)ccafs	p.P281fs	FAHD2B_ENST00000272610.3_Frame_Shift_Del_p.P281fs|FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000440566.2_Frame_Shift_Del_p.P281fs			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	281							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						ACCGACACCTGGGGGGGTCCC	0.552																																						ENST00000414820.1																			0				kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						c.(841-843)cafs		fumarylacetoacetate hydrolase domain containing 2B							29.0	31.0	30.0					2																	97749725		2203	4297	6500	SO:0001589	frameshift_variant	151313						hydrolase activity|metal ion binding	g.chr2:97749725delG		CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.842delC	2.37:g.97749725delG	ENSP00000410470:p.Pro281fs					FAHD2B_ENST00000272610.3_Frame_Shift_Del_p.P281fs|FAHD2B_ENST00000440566.2_Frame_Shift_Del_p.P281fs	p.P281fs			Q6P2I3	FAH2B_HUMAN			8	1112	-			281					D3DXH7|Q8NDK1	Frame_Shift_Del	DEL	ENST00000414820.1	37	c.842delC	CCDS2030.1																																																																																				0.552	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	NM_199336		16	52						16	52	---	---	---	---
EN1	2019	broad.mit.edu	37	2	119600797	119600799	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:119600797_119600799delTTC	ENST00000295206.6	-	2	1404_1406	c.894_896delGAA	c.(892-897)aagaac>aac	p.K298del	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	298					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCTTCTCGTTCTTCTTCTTCT	0.68																																						ENST00000295206.6																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						c.(892-897)aac>aa		engrailed homeobox 1				30,4196		1,28,2084						3.8	1.0			19	68,8142		2,64,4039	no	coding	EN1	NM_001426.3		3,92,6123	A1A1,A1R,RR		0.8283,0.7099,0.788				98,12338				SO:0001651	inframe_deletion	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119600797_119600799delTTC	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.894_896delGAA	2.37:g.119600806_119600808delTTC	ENSP00000295206:p.Lys298del						p.KN298del	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN			2	1404_1406	-			298					Q4ZG44	In_Frame_Del	DEL	ENST00000295206.6	37	c.894_896delGAA	CCDS2123.1																																																																																				0.680	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			6	11						6	11	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130872806	130872806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:130872806delT	ENST00000409914.2	-	4	1016	c.617delA	c.(616-618)aagfs	p.K206fs	POTEF_ENST00000361163.4_Frame_Shift_Del_p.K206fs|POTEF_ENST00000360967.5_Frame_Shift_Del_p.K206fs|POTEF_ENST00000357462.5_Frame_Shift_Del_p.K206fs	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	206					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K206R(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGCTGTCCTCTTTTTGTTGTC	0.403																																						ENST00000357462.5																			2	Substitution - Missense(2)	p.K206R(2)	lung(2)	breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(616-618)agfs		POTE ankyrin domain family, member F							12.0	14.0	13.0					2																	130872806		1993	3901	5894	SO:0001589	frameshift_variant	728378					cell cortex	ATP binding	g.chr2:130872806delT	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.617delA	2.37:g.130872806delT	ENSP00000386786:p.Lys206fs					POTEF_ENST00000409914.2_Frame_Shift_Del_p.K206fs|POTEF_ENST00000360967.5_Frame_Shift_Del_p.K206fs|POTEF_ENST00000361163.4_Frame_Shift_Del_p.K206fs	p.K206fs			A5A3E0	POTEF_HUMAN			2	710	-			206					A6NC34	Frame_Shift_Del	DEL	ENST00000409914.2	37	c.617delA	CCDS46409.1																																																																																				0.403	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		28	86						28	86	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021077	132021078	+	Frame_Shift_Ins	INS	-	-	A	rs200735283	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:132021077_132021078insA	ENST00000356920.5	+	15	2143_2144	c.2049_2050insA	c.(2050-2052)aaafs	p.K684fs	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	684					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TTGAAAGTGTGAAAAAAAAGAA	0.416																																						ENST00000356920.5																			0											c.(2047-2052)gtaaaafs		POTE ankyrin domain family, member E																																				SO:0001589	frameshift_variant	445582						ATP binding	g.chr2:132021077_132021078insA	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2057dupA	2.37:g.132021085_132021085dupA	ENSP00000439189:p.Lys684fs					PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	p.VK683fs	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	2143_2144	+			683					Q6S8J4|Q6S8J5|Q6S8J8	Frame_Shift_Ins	INS	ENST00000356920.5	37	c.2049_2050insA	CCDS46414.1																																																																																				0.416	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		14	24						14	24	---	---	---	---
CCDC173	129881	broad.mit.edu	37	2	170502600	170502603	+	Frame_Shift_Del	DEL	TTCT	TTCT	-	rs528660254		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170502600_170502603delTTCT	ENST00000447353.1	-	9	1512_1515	c.1407_1410delAGAA	c.(1405-1410)aaagaafs	p.KE469fs		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	469																	AGTCCTGAAATTCTTTCTCCTTTT	0.373																																						ENST00000447353.1																			0											c.(1405-1410)aafs		coiled-coil domain containing 173				4,3566		2,0,1783						5.7	1.0			220	38,7788		18,2,3893	no	frameshift	C2orf77	NM_001085447.1		20,2,5676	A1A1,A1R,RR		0.4856,0.112,0.3686				42,11354				SO:0001589	frameshift_variant	129881							g.chr2:170502600_170502603delTTCT	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1407_1410delAGAA	2.37:g.170502604_170502607delTTCT	ENSP00000391504:p.Lys469fs						p.KE469fs	NM_001085447.1	NP_001078916.1					9	1512_1515	-								Q6PJF6	Frame_Shift_Del	DEL	ENST00000447353.1	37	c.1407_1410delAGAA	CCDS46445.1																																																																																				0.373	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		38	352						38	352	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179598102	179598102	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179598102delT	ENST00000591111.1	-	52	15191	c.14967delA	c.(14965-14967)aaafs	p.K4989fs	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.K5306fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K4062fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12368	Ig-like 30.				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)			TTATTCGGTATTTTTTACTGG	0.468																																						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.(15916-15918)aafs		titin							99.0	98.0	98.0					2																	179598102		1845	4099	5944	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598102delT	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.14967delA	2.37:g.179598102delT	ENSP00000465570:p.Lys4989fs					TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.K4062fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.K4989fs	p.K5306fs	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)		54	16142	-			4989			Ig-like 33.		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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.15918delA																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		86	109						86	109	---	---	---	---
HTR2B	3357	broad.mit.edu	37	2	231973400	231973401	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:231973400_231973401delTT	ENST00000258400.3	-	4	1788_1789	c.1276_1277delAA	c.(1276-1278)aagfs	p.K426fs	PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	426					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	CTTGAAAAACTTAGAGTTCTCT	0.426																																					Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(1276-1278)gfs		5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)																																			SO:0001589	frameshift_variant	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231973400_231973401delTT		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1276_1277delAA	2.37:g.231973400_231973401delTT	ENSP00000258400:p.Lys426fs					PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron	p.K426fs	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1788_1789	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	426					B2R9D5|Q53TI1|Q62221|Q6P523	Frame_Shift_Del	DEL	ENST00000258400.3	37	c.1276_1277delAA	CCDS2483.1																																																																																				0.426	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		34	69						34	69	---	---	---	---
SLC38A3	10991	broad.mit.edu	37	3	50255683	50255683	+	RNA	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50255683delC	ENST00000420502.1	+	0	1088									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		CCAACACCCACCCCCCCACTT	0.557																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						61.0	64.0	63.0					3																	50255683		1955	4130	6085			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50255683delC	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50255683delC										Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	1088	+									RNA	DEL	ENST00000420502.1	37																																																																																						0.557	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		42	21						42	21	---	---	---	---
SLC9C1	285335	broad.mit.edu	37	3	112005610	112005610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:112005610delA	ENST00000305815.5	-	2	281	c.29delT	c.(28-30)ttcfs	p.F10fs	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Frame_Shift_Del_p.F10fs	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	10					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CTCAGTACTGAAAAAAAACTC	0.353																																						ENST00000305815.5																			0											c.(28-30)tcfs		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							57.0	58.0	58.0					3																	112005610		2203	4297	6500	SO:0001589	frameshift_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:112005610delA	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.29delT	3.37:g.112005610delA	ENSP00000306627:p.Phe10fs					SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Frame_Shift_Del_p.F10fs	p.F10fs	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			2	281	-			10					Q6ZRP4|Q7RTP2	Frame_Shift_Del	DEL	ENST00000305815.5	37	c.29delT	CCDS33817.1																																																																																				0.353	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		12	33						12	33	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:114058003delG	ENST00000474710.1	-	5	2253	c.2075delC	c.(2074-2076)cctfs	p.P692fs	ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			1	Deletion - Frameshift(1)	p.P619fs*43(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1855-1857)ctfs		zinc finger and BTB domain containing 20							56.0	55.0	55.0					3																	114058003		2203	4300	6503	SO:0001589	frameshift_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058003delG	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2075delC	3.37:g.114058003delG	ENSP00000419153:p.Pro692fs					ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.P692fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs	p.P619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2677	-			692					Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	ENST00000474710.1	37	c.1856delC	CCDS54626.1																																																																																				0.632	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		88	28						88	28	---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132403500	132403502	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132403500_132403502delTTC	ENST00000337331.5	-	24	3552_3554	c.3466_3468delGAA	c.(3466-3468)gaadel	p.E1156del	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1156					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						TTTCATAAAGTTCTTCTGCTTTA	0.419																																						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.(3466-3468)del		nephronophthisis 3 (adolescent)																																				SO:0001651	inframe_deletion	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.chr3:132403500_132403502delTTC	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.3466_3468delGAA	3.37:g.132403503_132403505delTTC	ENSP00000338766:p.Glu1156del					NPHP3_ENST00000326682.8_3'UTR	p.E1156del	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			24	3552_3554	-			1156					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	In_Frame_Del	DEL	ENST00000337331.5	37	c.3466_3468delGAA	CCDS3078.1																																																																																				0.419	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		40	20						40	20	---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6052396	6052397	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6052396_6052397delCT	ENST00000409021.3	-	14	2265_2266	c.1816_1817delAG	c.(1816-1818)aggfs	p.R607fs	JAKMIP1_ENST00000409371.3_Frame_Shift_Del_p.R422fs	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGCGACCTCCTCTCTCTCTCC	0.485																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1816-1818)gfs		janus kinase and microtubule interacting protein 1																																				SO:0001589	frameshift_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6052396_6052397delCT	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.1816_1817delAG	4.37:g.6052404_6052405delCT	ENSP00000386711:p.Arg607fs					JAKMIP1_ENST00000409371.3_Frame_Shift_Del_p.R422fs	p.R607fs	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			14	2265_2266	-			379			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Frame_Shift_Del	DEL	ENST00000409021.3	37	c.1816_1817delAG	CCDS47005.1																																																																																				0.485	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720		3	5						3	5	---	---	---	---
QRFPR	84109	broad.mit.edu	37	4	122301462	122301462	+	Splice_Site	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:122301462delC	ENST00000394427.2	-	1	752		c.e1+1		QRFPR_ENST00000334383.5_Splice_Site	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GCGACTCTTACCCCCCAGCCA	0.542																																						ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.e1+1		pyroglutamylated RFamide peptide receptor																																				SO:0001630	splice_region_variant	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122301462delC	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.340+1G>-	4.37:g.122301462delC						QRFPR_ENST00000334383.5_Splice_Site		NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN			1	752	-									Splice_Site	DEL	ENST00000394427.2	37		CCDS3719.1																																																																																				0.542	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179	Intron	8	165						8	165	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24491704	24491706	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:24491704_24491706delGAG	ENST00000264463.4	-	11	2362_2364	c.1855_1857delCTC	c.(1855-1857)ctcdel	p.L619del	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	619					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGATGATGCAGAGGAGGATGGCG	0.483										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1855-1857)del		cadherin 10, type 2 (T2-cadherin)																																				SO:0001651	inframe_deletion	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24491704_24491706delGAG	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1855_1857delCTC	5.37:g.24491707_24491709delGAG	ENSP00000264463:p.Leu619del	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.L619del	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	11	2362_2364	-			619					Q9ULB3	In_Frame_Del	DEL	ENST00000264463.4	37	c.1855_1857delCTC	CCDS3892.1																																																																																				0.483	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		55	110						55	110	---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65371013	65371014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:65371013_65371014insC	ENST00000284037.5	+	23	4307_4308	c.3918_3919insC	c.(3919-3921)cccfs	p.P1307fs	ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380939.2_Frame_Shift_Ins_p.P1255fs|ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.P505fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.P1266fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.P1266fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.P1314fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.P1262fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.P1266fs|ERBB2IP_ENST00000503913.1_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1307					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CATATACACAGCCCCATTGTTC	0.421																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(3916-3921)cacccafs		erbb2 interacting protein																																				SO:0001589	frameshift_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65371013_65371014insC		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3922dupC	5.37:g.65371017_65371017dupC	ENSP00000284037:p.Pro1307fs					ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.HP504fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.HP1261fs|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.HP1265fs|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.HP1265fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Ins_p.HP1254fs|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.HP1265fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.HP1313fs	p.HP1306fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	23	4307_4308	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1306					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Frame_Shift_Ins	INS	ENST00000284037.5	37	c.3918_3919insC	CCDS58953.1																																																																																				0.421	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		27	230						27	230	---	---	---	---
PPIP5K2	23262	broad.mit.edu	37	5	102537324	102537324	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:102537324delA	ENST00000358359.3	+	31	4230	c.3721delA	c.(3721-3723)aaafs	p.K1243fs	PPIP5K2_ENST00000414217.1_Frame_Shift_Del_p.K1222fs|PPIP5K2_ENST00000321521.9_Frame_Shift_Del_p.K1222fs	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1243					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAACACTGGGAAAAAGAAATG	0.313																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(3658-3660)aafs		diphosphoinositol pentakisphosphate kinase 2							64.0	68.0	67.0					5																	102537324		2203	4299	6502	SO:0001589	frameshift_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102537324delA	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3721delA	5.37:g.102537324delA	ENSP00000351126:p.Lys1243fs					PPIP5K2_ENST00000414217.1_Frame_Shift_Del_p.K1222fs|PPIP5K2_ENST00000358359.3_Frame_Shift_Del_p.K1243fs	p.K1222fs			O43314	VIP2_HUMAN			30	4231	+			1243					A1NI53|A6NGS8|Q8TB50	Frame_Shift_Del	DEL	ENST00000358359.3	37	c.3658delA																																																																																					0.313	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		13	15						13	15	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112363035	112363037	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:112363035_112363037delCTC	ENST00000302475.4	-	17	3015_3017	c.2452_2454delGAG	c.(2452-2454)gagdel	p.E818del	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_In_Frame_Del_p.E1008del|MCC_ENST00000515367.2_In_Frame_Del_p.E755del	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	818					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCTGGAGTTCTCCTCCTCTAGC	0.507																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2452-2454)del		mutated in colorectal cancers																																				SO:0001651	inframe_deletion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112363035_112363037delCTC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2452_2454delGAG	5.37:g.112363041_112363043delCTC	ENSP00000305617:p.Glu818del					MCC_ENST00000515367.2_In_Frame_Del_p.E755del|MCC_ENST00000408903.3_In_Frame_Del_p.E1008del|MCC_ENST00000514701.3_5'UTR	p.E818del	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	17	3015_3017	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	818					D3DT05|Q6ZR04	In_Frame_Del	DEL	ENST00000302475.4	37	c.2452_2454delGAG	CCDS4111.1																																																																																				0.507	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		52	90						52	90	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137721747	137721749	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:137721747_137721749delAAG	ENST00000314358.5	+	7	1017_1019	c.817_819delAAG	c.(817-819)aagdel	p.K275del	KDM3B_ENST00000542866.1_5'Flank|KDM3B_ENST00000394866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	275					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTCCAAAGGAAAGAAGAAGAGAG	0.419																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(817-819)del		lysine (K)-specific demethylase 3B																																				SO:0001651	inframe_deletion	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137721747_137721749delAAG	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.817_819delAAG	5.37:g.137721753_137721755delAAG	ENSP00000326563:p.Lys275del						p.K275del	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			7	1017_1019	+			275					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	In_Frame_Del	DEL	ENST00000314358.5	37	c.817_819delAAG	CCDS34242.1																																																																																				0.419	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		65	142						65	142	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139189297	139189298	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:139189297_139189298delAA	ENST00000274710.3	+	2	477_478	c.272_273delAA	c.(271-273)gaafs	p.E91fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	91					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACATTCTGGAAGATTCAGCGG	0.619																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(271-273)gfs		pleckstrin and Sec7 domain containing 2																																				SO:0001589	frameshift_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139189297_139189298delAA	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.272_273delAA	5.37:g.139189297_139189298delAA	ENSP00000274710:p.Glu91fs						p.E91fs	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	477_478	+			91					D3DQD3|Q8N3J8	Frame_Shift_Del	DEL	ENST00000274710.3	37	c.272_273delAA	CCDS4216.1																																																																																				0.619	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		77	150						77	150	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140255597	140255601	+	Frame_Shift_Del	DEL	TAAAA	TAAAA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140255597_140255601delTAAAA	ENST00000398631.2	+	1	540_544	c.540_544delTAAAA	c.(538-546)cttaaaatafs	p.KI181fs	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	181	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L180L(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTGAGCTTAAAATAAAAACAAA	0.366																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			1	Substitution - coding silent(1)	p.L180L(1)	kidney(1)	NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(538-546)cttafs																																						SO:0001589	frameshift_variant	0							g.chr5:140255597_140255601delTAAAA	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.540_544delTAAAA	5.37:g.140255602_140255606delTAAAA	ENSP00000381628:p.Lys181fs					PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron	p.LKI180fs	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	540_544	+								O75278|Q2M1N8	Frame_Shift_Del	DEL	ENST00000398631.2	37	c.540_544delTAAAA	CCDS47285.1																																																																																				0.366	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		20	82						20	82	---	---	---	---
HIGD2A	192286	broad.mit.edu	37	5	175815916	175815917	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:175815916_175815917delAG	ENST00000274787.2	+	1	169_170	c.96_97delAG	c.(94-99)ccagagfs	p.E33fs	NOP16_ENST00000509257.1_5'Flank|NOP16_ENST00000507413.1_5'Flank|NOP16_ENST00000389158.5_5'UTR|NOP16_ENST00000510123.1_5'Flank	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	33	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				negative regulation of apoptotic process (GO:0043066)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		ACAGGAATCCAGAGAGTTTCAA	0.564																																						ENST00000274787.2																			0				large_intestine(1)	1						c.(94-99)ccagfs		HIG1 hypoxia inducible domain family, member 2A																																				SO:0001589	frameshift_variant	192286					integral to membrane		g.chr5:175815916_175815917delAG	BC007502	CCDS4401.1	5q35.2	2009-03-17	2009-03-17		ENSG00000146066	ENSG00000146066			28311	protein-coding gene	gene with protein product			"""HIG1 domain family, member 2A"""			12477932	Standard	NM_138820		Approved	MGC2198	uc003meg.3	Q9BW72	OTTHUMG00000130657	ENST00000274787.2:c.96_97delAG	5.37:g.175815920_175815921delAG	ENSP00000274787:p.Glu33fs					NOP16_ENST00000389158.5_5'UTR	p.PE32fs	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)	1	169_170	+	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	32			HIG1.			Frame_Shift_Del	DEL	ENST00000274787.2	37	c.96_97delAG	CCDS4401.1																																																																																				0.564	HIGD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253147.1	NM_138820		94	154						94	154	---	---	---	---
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			0							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			5	2						5	2	---	---	---	---
SNAP91	9892	broad.mit.edu	37	6	84417562	84417563	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:84417562_84417563insT	ENST00000439399.2	-	2	400_401	c.84_85insA	c.(82-87)aaagccfs	p.A29fs	SNAP91_ENST00000369694.2_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000521743.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000195649.6_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000520302.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000428679.2_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000521485.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000437520.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000520213.1_Frame_Shift_Ins_p.A29fs	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	29	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGAGTAGTGGCTTTGCAGACCG	0.559																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(82-87)aaccacfs		synaptosomal-associated protein, 91kDa																																				SO:0001589	frameshift_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84417562_84417563insT	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.85dupA	6.37:g.84417565_84417565dupT	ENSP00000400459:p.Ala29fs					SNAP91_ENST00000521743.1_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000520213.1_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000520302.1_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000195649.6_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000437520.1_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000369694.2_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000439399.2_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000521485.1_Frame_Shift_Ins_p.NH28fs	p.NH28fs			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	2	677_678	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	28			ENTH.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Frame_Shift_Ins	INS	ENST00000439399.2	37	c.84_85insA	CCDS47455.1																																																																																				0.559	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			98	57						98	57	---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150005515	150005515	+	Frame_Shift_Del	DEL	G	G	-	rs56149740	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:150005515delG	ENST00000543571.1	-	4	1257	c.710delC	c.(709-711)ccafs	p.P240fs	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Frame_Shift_Del_p.P240fs|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P240fs	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGGTGGTGGTGGGGGGTTCAC	0.532																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(709-711)cafs		large tumor suppressor kinase 1							124.0	112.0	116.0					6																	150005515		2203	4300	6503	SO:0001589	frameshift_variant	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005515delG	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.710delC	6.37:g.150005515delG	ENSP00000437550:p.Pro240fs					LATS1_ENST00000392273.3_Frame_Shift_Del_p.P240fs|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P240fs	p.P240fs	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1257	-		Ovarian(120;0.0164)	240						Frame_Shift_Del	DEL	ENST00000543571.1	37	c.710delC	CCDS34551.1																																																																																				0.532	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		18	149						18	149	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014804	33014804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:33014804delC	ENST00000242209.4	+	3	547	c.378delC	c.(376-378)atcfs	p.I126fs	FKBP9_ENST00000538336.1_Frame_Shift_Del_p.I179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTGGTGTGATCCCCCCCAATT	0.443																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)atfs		FK506 binding protein 9, 63 kDa							84.0	84.0	84.0					7																	33014804		2203	4300	6503	SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014804delC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.378delC	7.37:g.33014804delC	ENSP00000242209:p.Ile126fs					FKBP9_ENST00000538336.1_Frame_Shift_Del_p.I179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	p.I126fs	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Del	DEL	ENST00000242209.4	37	c.378delC	CCDS5439.1																																																																																				0.443	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		33	71						33	71	---	---	---	---
POLR2J4	84820	broad.mit.edu	37	7	44055990	44055990	+	RNA	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:44055990delC	ENST00000427076.1	-	0	179				RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000326391.6_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		CCCAGAGGGGCCCATTAAACA	0.483																																						ENST00000427076.1																			0																																																			0							g.chr7:44055990delC			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44055990delC								NR_003655.2						0	179	-									RNA	DEL	ENST00000427076.1	37																																																																																						0.483	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		20	322						20	322	---	---	---	---
PON1	5444	broad.mit.edu	37	7	94931546	94931548	+	In_Frame_Del	DEL	AGA	AGA	-	rs375067643		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:94931546_94931548delAGA	ENST00000222381.3	-	8	1109_1111	c.878_880delTCT	c.(877-882)ttctat>tat	p.F293del	PON1_ENST00000542556.1_In_Frame_Del_p.F293del	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	293					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	TCTGAGTCATAGAAGAAGATTTT	0.399																																					GBM(119;715 1622 17358 22490 33240)	ENST00000222381.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(877-882)tat>t		paraoxonase 1	Atorvastatin(DB01076)|Cefazolin(DB01327)			56,4208		28,0,2104						4.7	0.9			80	129,8125		64,1,4062	no	coding	PON1	NM_000446.5		92,1,6166	A1A1,A1R,RR		1.5629,1.3133,1.4779				185,12333				SO:0001651	inframe_deletion	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94931546_94931548delAGA	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.878_880delTCT	7.37:g.94931552_94931554delAGA	ENSP00000222381:p.Phe293del					PON1_ENST00000542556.1_In_Frame_Del_p.FY293del	p.FY293del	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		8	1109_1111	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		293					B2RA40|Q16052|Q6B0J6|Q9UCB1	In_Frame_Del	DEL	ENST00000222381.3	37	c.878_880delTCT	CCDS5638.1																																																																																				0.399	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		20	108						20	108	---	---	---	---
MCM7	4176	broad.mit.edu	37	7	99690987	99690989	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:99690987_99690989delTCT	ENST00000303887.5	-	14	2529_2531	c.1884_1886delAGA	c.(1882-1887)gaagat>gat	p.E628del	MIR106B_ENST00000385301.1_RNA|MCM7_ENST00000354230.3_In_Frame_Del_p.E452del|MIR25_ENST00000384816.1_RNA|MCM7_ENST00000343023.6_Intron|MIR93_ENST00000385024.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	628	Interaction with ATRIP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCATTCACATCTTCTTTCTCCA	0.527																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(1882-1887)gat>ga		minichromosome maintenance complex component 7	Atorvastatin(DB01076)																																			SO:0001651	inframe_deletion	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99690987_99690989delTCT		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1884_1886delAGA	7.37:g.99690990_99690992delTCT	ENSP00000307288:p.Glu628del					MCM7_ENST00000354230.3_In_Frame_Del_p.ED452del|MCM7_ENST00000343023.6_Intron	p.ED628del	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			14	2529_2531	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		628			Interaction with ATRIP.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	In_Frame_Del	DEL	ENST00000303887.5	37	c.1884_1886delAGA	CCDS5683.1																																																																																				0.527	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			107	209						107	209	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100353038	100353039	+	RNA	INS	-	-	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:100353038_100353039insC	ENST00000348028.3	+	0	3474				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TATGAGGTAAGCCCCCCGGGAT	0.545																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100353038_100353039insC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100353044_100353044dupC						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3457	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.545	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		9	179						9	179	---	---	---	---
SLC13A4	26266	broad.mit.edu	37	7	135375977	135375977	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:135375977delC	ENST00000354042.4	-	13	2104	c.1415delG	c.(1414-1416)ggafs	p.G473fs	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	473					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AGCATAGCCTCCCCCAACCAG	0.507																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1414-1416)gafs		solute carrier family 13 (sodium/sulfate symporter), member 4							101.0	94.0	97.0					7																	135375977		2203	4300	6503	SO:0001589	frameshift_variant	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135375977delC	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1415delG	7.37:g.135375977delC	ENSP00000297282:p.Gly473fs					C7orf73_ENST00000422968.1_Intron	p.G473fs	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			13	2104	-			473					A4D1Q4|Q8N631	Frame_Shift_Del	DEL	ENST00000354042.4	37	c.1415delG	CCDS5840.1																																																																																				0.507	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		36	62						36	62	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142561447	142561448	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:142561447_142561448insG	ENST00000392957.2	+	6	946_947	c.159_160insG	c.(160-162)gggfs	p.G54fs	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.G54fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	54	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTACCCACCAGGGGGGGTGAG	0.574																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(157-162)ccggggfs		EPH receptor B6																																				SO:0001589	frameshift_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561447_142561448insG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.165dupG	7.37:g.142561454_142561454dupG	ENSP00000376684:p.Gly54fs					EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.PG53fs|EPHB6_ENST00000411471.2_Intron	p.PG53fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			6	946_947	+	Melanoma(164;0.059)		53					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Ins	INS	ENST00000392957.2	37	c.159_160insG	CCDS5873.2																																																																																				0.574	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	165						7	165	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149506123	149506123	+	RNA	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:149506123delC	ENST00000378016.2	+	0	9121							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGGCACCACCCCCAGGTCC	0.701																																						ENST00000378016.2																			0													SCO-spondin							15.0	21.0	19.0					7																	149506123		2005	4148	6153			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149506123delC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149506123delC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	9121	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.701	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	33						8	33	---	---	---	---
SLC4A2	6522	broad.mit.edu	37	7	150761737	150761737	+	Frame_Shift_Del	DEL	G	G	-	rs570492111		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:150761737delG	ENST00000485713.1	+	4	1382	c.342delG	c.(340-342)ccgfs	p.P114fs	SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.P32fs|SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.P105fs|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.P114fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.P100fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	114	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCCTCCCCGACTGGAGAAA	0.687																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(340-342)ccfs		solute carrier family 4 (anion exchanger), member 2							26.0	33.0	30.0					7																	150761737		2200	4298	6498	SO:0001589	frameshift_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150761737delG		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.342delG	7.37:g.150761737delG	ENSP00000419412:p.Pro114fs					SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.P32fs|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.P114fs|SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.P105fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.P100fs	p.P114fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	1382	+			114			Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Frame_Shift_Del	DEL	ENST00000485713.1	37	c.342delG	CCDS5917.1																																																																																				0.687	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		35	61						35	61	---	---	---	---
CLU	1191	broad.mit.edu	37	8	27468075	27468076	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:27468075_27468076delAG	ENST00000316403.10	-	2	418_419	c.13_14delCT	c.(13-15)ctgfs	p.L7fs	CLU_ENST00000523500.1_Frame_Shift_Del_p.L7fs|CLU_ENST00000560366.1_Frame_Shift_Del_p.L59fs|CLU_ENST00000405140.3_Frame_Shift_Del_p.L7fs|CLU_ENST00000546343.1_Frame_Shift_Del_p.L18fs			P10909	CLUS_HUMAN	clusterin	7					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		AAACAGCAGCAGAGTCTTCATC	0.584																																						ENST00000316403.10																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21						c.(13-15)gfs		clusterin																																				SO:0001589	frameshift_variant	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27468075_27468076delAG	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.13_14delCT	8.37:g.27468077_27468078delAG	ENSP00000315130:p.Leu7fs					CLU_ENST00000560366.1_Frame_Shift_Del_p.L59fs|CLU_ENST00000546343.1_Frame_Shift_Del_p.L18fs|CLU_ENST00000405140.3_Frame_Shift_Del_p.L7fs|CLU_ENST00000523500.1_Frame_Shift_Del_p.L7fs	p.L7fs			P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	2	418_419	-		Ovarian(32;2.61e-05)	7					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Frame_Shift_Del	DEL	ENST00000316403.10	37	c.13_14delCT	CCDS47832.1																																																																																				0.584	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		28	41						28	41	---	---	---	---
MTFR1	9650	broad.mit.edu	37	8	66620197	66620197	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:66620197delA	ENST00000262146.4	+	7	1010	c.884delA	c.(883-885)gaafs	p.E295fs	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Frame_Shift_Del_p.E262fs	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	295	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATGAAGTTGAAAAAGGAATT	0.443																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(883-885)gafs		mitochondrial fission regulator 1							130.0	132.0	131.0					8																	66620197		2203	4300	6503	SO:0001589	frameshift_variant	9650					mitochondrion|plasma membrane		g.chr8:66620197delA		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.884delA	8.37:g.66620197delA	ENSP00000262146:p.Glu295fs					MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Frame_Shift_Del_p.E262fs	p.E295fs	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		7	1010	+			295					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Frame_Shift_Del	DEL	ENST00000262146.4	37	c.884delA	CCDS6182.1																																																																																				0.443	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		43	125						43	125	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100796702	100796702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:100796702delC	ENST00000358544.2	+	43	8125	c.8014delC	c.(8014-8016)cagfs	p.Q2672fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.Q2647fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2672					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAATCCCCACAGGTATTTGA	0.468																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(8014-8016)agfs		vacuolar protein sorting 13 homolog B (yeast)							82.0	82.0	82.0					8																	100796702		2203	4300	6503	SO:0001589	frameshift_variant	157680				protein transport			g.chr8:100796702delC	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8014delC	8.37:g.100796702delC	ENSP00000351346:p.Gln2672fs					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.Q2647fs	p.Q2672fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		43	8125	+	Breast(36;3.73e-07)		2672					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	ENST00000358544.2	37	c.8014delC	CCDS6280.1																																																																																				0.468	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		39	69						39	69	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124105886	124105886	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:124105886delT	ENST00000287380.1	+	5	665	c.575delT	c.(574-576)attfs	p.I192fs	TBC1D31_ENST00000327098.5_Frame_Shift_Del_p.I192fs|TBC1D31_ENST00000378080.2_Frame_Shift_Del_p.I87fs|TBC1D31_ENST00000309336.3_Frame_Shift_Del_p.I192fs|TBC1D31_ENST00000521676.1_Frame_Shift_Del_p.I87fs|TBC1D31_ENST00000522420.1_Frame_Shift_Del_p.I87fs	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	192						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										GATAATTCCATTTTTGCCTGG	0.348																																						ENST00000287380.1																			0											c.(574-576)atfs		TBC1 domain family, member 31							103.0	102.0	103.0					8																	124105886		2203	4299	6502	SO:0001589	frameshift_variant	93594							g.chr8:124105886delT	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.575delT	8.37:g.124105886delT	ENSP00000287380:p.Ile192fs					TBC1D31_ENST00000521676.1_Frame_Shift_Del_p.I87fs|TBC1D31_ENST00000378080.2_Frame_Shift_Del_p.I87fs|TBC1D31_ENST00000309336.3_Frame_Shift_Del_p.I192fs|TBC1D31_ENST00000327098.5_Frame_Shift_Del_p.I192fs|TBC1D31_ENST00000522420.1_Frame_Shift_Del_p.I87fs	p.I192fs	NM_145647.3	NP_663622.2					5	665	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Frame_Shift_Del	DEL	ENST00000287380.1	37	c.575delT	CCDS6338.1																																																																																				0.348	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		18	42						18	42	---	---	---	---
FOXD4	2298	broad.mit.edu	37	9	117366	117367	+	Frame_Shift_Ins	INS	-	-	G	rs201303152	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:117366_117367insG	ENST00000382500.2	-	1	1050_1051	c.753_754insC	c.(751-756)cccgggfs	p.G252fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	252	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGGCGTCTCCCGGGGCCGGTGT	0.728																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(751-756)ccggagfs		forkhead box D4																																				SO:0001589	frameshift_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117366_117367insG	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.754dupC	9.37:g.117370_117370dupG	ENSP00000371940:p.Gly252fs						p.E252fs	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	1050_1051	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	252			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	c.753_754insC	CCDS34975.1																																																																																				0.728	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		8	69						8	69	---	---	---	---
CCIN	881	broad.mit.edu	37	9	36170732	36170732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:36170732delC	ENST00000335119.2	+	1	1344	c.1233delC	c.(1231-1233)atcfs	p.I411fs		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	411					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AGATGAGCATCCCCATGGATG	0.552																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1231-1233)atfs		calicin							158.0	116.0	130.0					9																	36170732		2203	4300	6503	SO:0001589	frameshift_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170732delC	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1233delC	9.37:g.36170732delC	ENSP00000334996:p.Ile411fs						p.I411fs	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1344	+			411					Q9BXG7	Frame_Shift_Del	DEL	ENST00000335119.2	37	c.1233delC	CCDS6599.1																																																																																				0.552	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		21	141						21	141	---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-	rs559478157		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116246504_116246506delCTT	ENST00000374140.2	+	7	821_823	c.612_614delCTT	c.(610-615)cacttc>cac	p.F207del	RGS3_ENST00000317613.6_In_Frame_Del_p.F95del|RGS3_ENST00000350696.5_In_Frame_Del_p.F207del	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	207	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(610-615)cac>ca		regulator of G-protein signaling 3																																				SO:0001651	inframe_deletion	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116246504_116246506delCTT	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.612_614delCTT	9.37:g.116246510_116246512delCTT	ENSP00000363255:p.Phe207del					RGS3_ENST00000350696.5_In_Frame_Del_p.HF204del|RGS3_ENST00000317613.6_In_Frame_Del_p.HF92del	p.HF204del	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			7	821_823	+			204			C2.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	In_Frame_Del	DEL	ENST00000374140.2	37	c.612_614delCTT	CCDS43869.1																																																																																				0.473	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		38	77						38	77	---	---	---	---
PHF19	26147	broad.mit.edu	37	9	123624994	123624996	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123624994_123624996delCTT	ENST00000373896.3	-	11	1252_1254	c.1000_1002delAAG	c.(1000-1002)aagdel	p.K334del	PHF19_ENST00000419155.1_In_Frame_Del_p.K125del|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	334					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAAGATGCACTTCTTCTTCTTG	0.606																																						ENST00000373896.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1000-1002)del		PHD finger protein 19																																				SO:0001651	inframe_deletion	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123624994_123624996delCTT	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1000_1002delAAG	9.37:g.123625003_123625005delCTT	ENSP00000363003:p.Lys334del					PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_In_Frame_Del_p.K125del	p.K334del	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN			11	1252_1254	-			334					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	In_Frame_Del	DEL	ENST00000373896.3	37	c.1000_1002delAAG	CCDS35116.1																																																																																				0.606	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		64	374						64	374	---	---	---	---
PPP1R26	9858	broad.mit.edu	37	9	138379043	138379043	+	Frame_Shift_Del	DEL	G	G	-	rs577235079		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:138379043delG	ENST00000356818.2	+	4	3236	c.2687delG	c.(2686-2688)aggfs	p.R896fs	PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	896					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGAGGGCCAGGGGGGTCCCA	0.701																																						ENST00000356818.2																			0											c.(2686-2688)agfs		protein phosphatase 1, regulatory subunit 26							28.0	36.0	33.0					9																	138379043		2103	4123	6226	SO:0001589	frameshift_variant	9858					nucleolus	protein binding	g.chr9:138379043delG	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2687delG	9.37:g.138379043delG	ENSP00000349274:p.Arg896fs					PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.R896fs	p.R896fs	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3236	+			896					Q86WU0|Q8WVV0|Q9Y4D3	Frame_Shift_Del	DEL	ENST00000356818.2	37	c.2687delG	CCDS6988.1																																																																																				0.701	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		71	137						71	137	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8007427	8007427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:8007427delC	ENST00000344293.5	+	3	2160	c.1954delC	c.(1954-1956)cccfs	p.P653fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	653	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGCCCCAGCACCCCCACTGGT	0.488																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1954-1956)ccfs		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							54.0	58.0	57.0					10																	8007427		1888	4111	5999	SO:0001589	frameshift_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8007427delC	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1954delC	10.37:g.8007427delC	ENSP00000340271:p.Pro653fs						p.P653fs	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	2160	+			653			Lys-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Frame_Shift_Del	DEL	ENST00000344293.5	37	c.1954delC	CCDS41487.1																																																																																				0.488	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		61	85						61	85	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27322259	27322259	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:27322259delT	ENST00000376087.4	-	25	3867	c.3702delA	c.(3700-3702)aaafs	p.K1234fs	ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.K1250fs|ANKRD26_ENST00000376070.3_Frame_Shift_Del_p.K791fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1233					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						ACATAGATTGTTTTTTTAGGG	0.323																																						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.(3700-3702)aafs		ankyrin repeat domain 26							147.0	135.0	139.0					10																	27322259		1844	4105	5949	SO:0001589	frameshift_variant	22852					centrosome		g.chr10:27322259delT	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.3702delA	10.37:g.27322259delT	ENSP00000365255:p.Lys1234fs					ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.K1250fs|ANKRD26_ENST00000376070.3_Frame_Shift_Del_p.K791fs	p.K1234fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			25	3867	-			1233					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Frame_Shift_Del	DEL	ENST00000376087.4	37	c.3702delA	CCDS41499.1																																																																																				0.323	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			23	63						23	63	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29760116delC	ENST00000355867.4	-	31	6338	c.5586delG	c.(5584-5586)gggfs	p.G1862fs	PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Frame_Shift_Del_p.G1436fs|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Del_p.G776fs|SVIL_ENST00000460007.1_5'Flank|SVIL_ENST00000375398.2_Frame_Shift_Del_p.G1862fs	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1862					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCACCACCATCCCCCCCTGGA	0.527																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(5584-5586)ggfs		supervillin							75.0	62.0	67.0					10																	29760116		2203	4300	6503	SO:0001589	frameshift_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29760116delC	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5586delG	10.37:g.29760116delC	ENSP00000348128:p.Gly1862fs					PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Frame_Shift_Del_p.G1436fs|SVIL_ENST00000355867.4_Frame_Shift_Del_p.G1862fs|SVIL_ENST00000535393.1_Frame_Shift_Del_p.G776fs|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA	p.G1862fs			O95425	SVIL_HUMAN			33	6035	-		Breast(68;0.103)	1862					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Del	DEL	ENST00000355867.4	37	c.5586delG	CCDS7164.1																																																																																				0.527	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			16	21						16	21	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29822002	29822004	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29822002_29822004delCTT	ENST00000355867.4	-	8	2044_2046	c.1292_1294delAAG	c.(1291-1296)gaaggg>ggg	p.E431del	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_In_Frame_Del_p.E431del	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	431					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				tctccttccccttcttcttcttc	0.498																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(1291-1296)ggg>g		supervillin			,	3,4261		0,3,2129					,	-0.1	0.0			48	4,8250		0,4,4123	no	coding,intron	SVIL	NM_021738.2,NM_003174.3	,	0,7,6252	A1A1,A1R,RR		0.0485,0.0704,0.0559	,	,		7,12511				SO:0001651	inframe_deletion	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29822002_29822004delCTT	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1292_1294delAAG	10.37:g.29822011_29822013delCTT	ENSP00000348128:p.Glu431del					SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_In_Frame_Del_p.EG435del	p.EG435del			O95425	SVIL_HUMAN			10	1741_1743	-		Breast(68;0.103)	435					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	In_Frame_Del	DEL	ENST00000355867.4	37	c.1292_1294delAAG	CCDS7164.1																																																																																				0.498	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			12	48						12	48	---	---	---	---
ZNF365	22891	broad.mit.edu	37	10	64159513	64159513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:64159513delA	ENST00000395254.3	+	5	1469	c.1189delA	c.(1189-1191)aaafs	p.K399fs	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAAATGGCTAAAAAAAAGCC	0.527																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1189-1191)aafs		zinc finger protein 365							45.0	43.0	44.0					10																	64159513		2203	4300	6503	SO:0001589	frameshift_variant	22891							g.chr10:64159513delA	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1189delA	10.37:g.64159513delA	ENSP00000378674:p.Lys399fs					ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	p.K399fs	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			5	1469	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Frame_Shift_Del	DEL	ENST00000395254.3	37	c.1189delA	CCDS31209.1																																																																																				0.527	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		12	45						12	45	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105727509	105727511	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105727509_105727511delCTT	ENST00000369755.3	+	1	551_553	c.6_8delCTT	c.(4-9)tccttc>tcc	p.F4del	SLK_ENST00000335753.4_In_Frame_Del_p.F4del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	4					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAAAATGTCCTTCTTCAATTTC	0.483																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(4-9)tcc>tc		STE20-like kinase																																				SO:0001651	inframe_deletion	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105727509_105727511delCTT		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.6_8delCTT	10.37:g.105727512_105727514delCTT	ENSP00000358770:p.Phe4del					SLK_ENST00000335753.4_In_Frame_Del_p.SF2del	p.SF2del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	1	551_553	+		Colorectal(252;0.178)	2					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	In_Frame_Del	DEL	ENST00000369755.3	37	c.6_8delCTT	CCDS7553.1																																																																																				0.483	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		41	157						41	157	---	---	---	---
PWWP2B	170394	broad.mit.edu	37	10	134218375	134218375	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:134218375delC	ENST00000305233.5	+	2	430	c.371delC	c.(370-372)gccfs	p.A124fs	PWWP2B_ENST00000368609.4_Frame_Shift_Del_p.A124fs	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	124	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TTCGAAGGCGCCCCCTTCCCT	0.751																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(370-372)gcfs		PWWP domain containing 2B							11.0	10.0	10.0					10																	134218375		1812	3513	5325	SO:0001589	frameshift_variant	170394							g.chr10:134218375delC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.371delC	10.37:g.134218375delC	ENSP00000306324:p.Ala124fs					PWWP2B_ENST00000368609.4_Frame_Shift_Del_p.A124fs	p.A124fs	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	430	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	124			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Frame_Shift_Del	DEL	ENST00000305233.5	37	c.371delC	CCDS7667.2																																																																																				0.751	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		11	29						11	29	---	---	---	---
TUBGCP2	10844	broad.mit.edu	37	10	135103416	135103418	+	In_Frame_Del	DEL	GTT	GTT	-	rs141945979	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135103416_135103418delGTT	ENST00000252936.3	-	8	1309_1311	c.1270_1272delAAC	c.(1270-1272)aacdel	p.N424del	TUBGCP2_ENST00000543663.1_In_Frame_Del_p.N452del|TUBGCP2_ENST00000417178.2_In_Frame_Del_p.N294del|TUBGCP2_ENST00000368563.2_In_Frame_Del_p.N424del|TUBGCP2_ENST00000368562.1_In_Frame_Del_p.N17del			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	424					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGTACTTGTCGTTGTAATCCTCC	0.581																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1270-1272)del		tubulin, gamma complex associated protein 2																																				SO:0001651	inframe_deletion	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135103416_135103418delGTT	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1270_1272delAAC	10.37:g.135103416_135103418delGTT	ENSP00000252936:p.Asn424del					TUBGCP2_ENST00000543663.1_In_Frame_Del_p.N452del|TUBGCP2_ENST00000368562.1_In_Frame_Del_p.N17del|TUBGCP2_ENST00000252936.3_In_Frame_Del_p.N424del|TUBGCP2_ENST00000417178.2_In_Frame_Del_p.N294del	p.N424del	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	9	1626_1628	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	424					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	In_Frame_Del	DEL	ENST00000252936.3	37	c.1270_1272delAAC	CCDS7676.1																																																																																				0.581	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			15	74						15	74	---	---	---	---
IFITM1	8519	broad.mit.edu	37	11	314210	314210	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:314210delC	ENST00000408968.3	+	1	358	c.40delC	c.(40-42)cccfs	p.P15fs	IFITM1_ENST00000528780.1_Frame_Shift_Del_p.P15fs|IFITM1_ENST00000328221.5_Frame_Shift_Del_p.P15fs	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	15					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTGGGGCCACCCCCCAGCAC	0.562																																						ENST00000408968.3																			0				large_intestine(1)|lung(3)	4						c.(40-42)ccfs		interferon induced transmembrane protein 1							81.0	89.0	86.0					11																	314210		2018	4164	6182	SO:0001589	frameshift_variant	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:314210delC	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.40delC	11.37:g.314210delC	ENSP00000386187:p.Pro15fs					IFITM1_ENST00000528780.1_Frame_Shift_Del_p.P15fs|IFITM1_ENST00000328221.5_Frame_Shift_Del_p.P15fs	p.P15fs	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	358	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	15					Q15322|Q53XZ0	Frame_Shift_Del	DEL	ENST00000408968.3	37	c.40delC	CCDS41584.1																																																																																				0.562	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		22	136						22	136	---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.65																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(262-264)del		tetraspanin 4																																				SO:0001651	inframe_deletion	0				protein complex assembly	integral to plasma membrane		g.chr11:864443_864445delCTG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.262_264delCTG	11.37:g.864452_864454delCTG	ENSP00000380553:p.Leu92del					TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del	p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	521_523	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	In_Frame_Del	DEL	ENST00000397404.1	37	c.262_264delCTG	CCDS7721.1																																																																																				0.650	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			7	221						7	221	---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32997894	32997895	+	Frame_Shift_Ins	INS	-	-	A	rs529298099|rs553810685		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:32997894_32997895insA	ENST00000399302.2	+	13	5417_5418	c.5082_5083insA	c.(5083-5085)aaafs	p.K1695fs	QSER1_ENST00000527788.1_Frame_Shift_Ins_p.K1456fs	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1695										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTTCGGTGCAGAAAAAAAATGA	0.292																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(5080-5085)caaaaafs		glutamine and serine rich 1																																				SO:0001589	frameshift_variant	79832							g.chr11:32997894_32997895insA	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.5090dupA	11.37:g.32997902_32997902dupA	ENSP00000382241:p.Lys1695fs					QSER1_ENST00000527788.1_Frame_Shift_Ins_p.QK1455fs	p.QK1694fs	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			13	5417_5418	+	Breast(20;0.158)		1694					Q6ZU30|Q6ZUR5	Frame_Shift_Ins	INS	ENST00000399302.2	37	c.5082_5083insA	CCDS41631.1																																																																																				0.292	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		20	45						20	45	---	---	---	---
HIPK3	10114	broad.mit.edu	37	11	33308890	33308891	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33308890_33308891insA	ENST00000303296.4	+	2	1235_1236	c.930_931insA	c.(931-933)aaafs	p.K311fs	HIPK3_ENST00000379016.3_Frame_Shift_Ins_p.K311fs|HIPK3_ENST00000525975.1_Frame_Shift_Ins_p.K311fs|HIPK3_ENST00000456517.1_Frame_Shift_Ins_p.K311fs	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCACTGCACTGAAAAAATTGAA	0.391																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(928-933)ctaaaafs		homeodomain interacting protein kinase 3																																				SO:0001589	frameshift_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33308890_33308891insA	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.936dupA	11.37:g.33308896_33308896dupA	ENSP00000304226:p.Lys311fs					HIPK3_ENST00000525975.1_Frame_Shift_Ins_p.LK310fs|HIPK3_ENST00000456517.1_Frame_Shift_Ins_p.LK310fs|HIPK3_ENST00000379016.3_Frame_Shift_Ins_p.LK310fs	p.LK310fs	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			2	1235_1236	+			310			Protein kinase.		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Frame_Shift_Ins	INS	ENST00000303296.4	37	c.930_931insA	CCDS7884.1																																																																																				0.391	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		34	168						34	168	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56058354	56058354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:56058354delA	ENST00000313022.2	-	1	212	c.185delT	c.(184-186)ttcfs	p.F62fs		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTGAGTAAGGAAAAAATACAT	0.403																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(184-186)tcfs		olfactory receptor, family 8, subfamily H, member 1							250.0	240.0	243.0					11																	56058354		2201	4296	6497	SO:0001589	frameshift_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058354delA	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.185delT	11.37:g.56058354delA	ENSP00000323595:p.Phe62fs						p.F62fs	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	212	-	Esophageal squamous(21;0.00448)		62					B2RNI7|Q6IFC5	Frame_Shift_Del	DEL	ENST00000313022.2	37	c.185delT	CCDS31526.1																																																																																				0.403	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		10	354						10	354	---	---	---	---
MTA2	9219	broad.mit.edu	37	11	62362913	62362916	+	Frame_Shift_Del	DEL	GAGA	GAGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62362913_62362916delGAGA	ENST00000278823.2	-	14	1692_1695	c.1303_1306delTCTC	c.(1303-1308)tctcctfs	p.SP435fs	MTA2_ENST00000524902.1_Frame_Shift_Del_p.SP262fs|MTA2_ENST00000527204.1_Frame_Shift_Del_p.SP262fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	435					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGTGTAAGGAGAGAGACTTTGA	0.51																																						ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(1303-1308)ctfs		metastasis associated 1 family, member 2																																				SO:0001589	frameshift_variant	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62362913_62362916delGAGA	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1303_1306delTCTC	11.37:g.62362917_62362920delGAGA	ENSP00000278823:p.Ser435fs					MTA2_ENST00000524902.1_Frame_Shift_Del_p.SP262fs|MTA2_ENST00000527204.1_Frame_Shift_Del_p.SP262fs	p.SP435fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			14	1692_1695	-			435					Q68DB1|Q9UQB5	Frame_Shift_Del	DEL	ENST00000278823.2	37	c.1303_1306delTCTC	CCDS8022.1																																																																																				0.510	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		36	157						36	157	---	---	---	---
SLC3A2	6520	broad.mit.edu	37	11	62649529	62649529	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62649529delA	ENST00000377890.2	+	5	1060	c.892delA	c.(892-894)aaafs	p.K300fs	SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377892.1_Frame_Shift_Del_p.K331fs|SLC3A2_ENST00000535296.1_Frame_Shift_Del_p.K269fs|SLC3A2_ENST00000377891.2_Frame_Shift_Del_p.K301fs|SLC3A2_ENST00000377889.2_Frame_Shift_Del_p.K238fs|SLC3A2_ENST00000338663.7_Frame_Shift_Del_p.K199fs	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	300					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.K331fs*31(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCAATCGGCTAAAAAAAAGAG	0.463																																						ENST00000377892.1																			1	Deletion - Frameshift(1)	p.K331fs*31(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(985-987)aafs		solute carrier family 3 (amino acid transporter heavy chain), member 2							73.0	74.0	74.0					11																	62649529		2201	4298	6499	SO:0001589	frameshift_variant	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62649529delA		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.892delA	11.37:g.62649529delA	ENSP00000367122:p.Lys300fs					SLC3A2_ENST00000377890.2_Frame_Shift_Del_p.K300fs|SLC3A2_ENST00000377891.2_Frame_Shift_Del_p.K301fs|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000535296.1_Frame_Shift_Del_p.K269fs|SLC3A2_ENST00000338663.7_Frame_Shift_Del_p.K199fs|SLC3A2_ENST00000377889.2_Frame_Shift_Del_p.K238fs	p.K331fs			P08195	4F2_HUMAN			6	1209	+			300					Q13543	Frame_Shift_Del	DEL	ENST00000377890.2	37	c.985delA	CCDS8039.2																																																																																				0.463	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		57	65						57	65	---	---	---	---
RCE1	9986	broad.mit.edu	37	11	66612694	66612696	+	In_Frame_Del	DEL	TCT	TCT	-	rs375531678		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66612694_66612696delTCT	ENST00000309657.3	+	6	721_723	c.677_679delTCT	c.(676-681)atcttc>atc	p.F227del	RCE1_ENST00000524506.1_In_Frame_Del_p.F227del|RCE1_ENST00000525356.1_In_Frame_Del_p.F104del	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	227					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGGGGAACATCTTCTTGTCTGC	0.527																																						ENST00000309657.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(676-681)atc>a		Ras converting CAAX endopeptidase 1																																				SO:0001651	inframe_deletion	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66612694_66612696delTCT	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.677_679delTCT	11.37:g.66612697_66612699delTCT	ENSP00000309163:p.Phe227del					RCE1_ENST00000525356.1_In_Frame_Del_p.IF103del|RCE1_ENST00000524506.1_In_Frame_Del_p.IF226del	p.IF226del	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN			6	721_723	+			226					Q52LZ9	In_Frame_Del	DEL	ENST00000309657.3	37	c.677_679delTCT	CCDS8151.1																																																																																				0.527	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		30	52						30	52	---	---	---	---
TBX10	347853	broad.mit.edu	37	11	67402373	67402373	+	Frame_Shift_Del	DEL	G	G	-	rs144542807		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67402373delG	ENST00000335385.3	-	3	378	c.291delC	c.(289-291)cccfs	p.P97fs		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	97					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						TCACCTGGAAGGGGGGGAACA	0.677																																						ENST00000335385.3																			0				endometrium(2)|lung(4)|ovary(1)	7						c.(289-291)ccfs		T-box 10							50.0	49.0	49.0					11																	67402373		2200	4294	6494	SO:0001589	frameshift_variant	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67402373delG	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.291delC	11.37:g.67402373delG	ENSP00000335191:p.Pro97fs						p.P97fs	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN			3	378	-			97					Q14D64|Q86XS3	Frame_Shift_Del	DEL	ENST00000335385.3	37	c.291delC	CCDS31621.1																																																																																				0.677	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		43	58						43	58	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82877339	82877340	+	Frame_Shift_Del	DEL	AG	AG	-	rs577705098	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82877339_82877340delAG	ENST00000298281.4	+	5	1852_1853	c.1400_1401delAG	c.(1399-1401)cagfs	p.Q467fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	467					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCAGAAAAACAGGGGACAAAAC	0.411																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1399-1401)cfs		PCF11 cleavage and polyadenylation factor subunit																																				SO:0001589	frameshift_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877339_82877340delAG	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1400_1401delAG	11.37:g.82877339_82877340delAG	ENSP00000298281:p.Gln467fs						p.Q467fs	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			5	1852_1853	+			467					A6H8W7|O43671|Q6P0X8	Frame_Shift_Del	DEL	ENST00000298281.4	37	c.1400_1401delAG	CCDS44689.1																																																																																				0.411	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		11	18						11	18	---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124845049	124845049	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:124845049delA	ENST00000344762.5	+	5	833	c.574delA	c.(574-576)aaafs	p.K194fs	CCDC15_ENST00000529051.1_Frame_Shift_Del_p.K194fs	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	194						centrosome (GO:0005813)		p.K194fs*29(5)|p.S196fs*6(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AACCGTGATTAAAAAAAAGGG	0.373																																						ENST00000529051.1																			7	Deletion - Frameshift(5)|Insertion - Frameshift(2)	p.K194fs*29(5)|p.S196fs*6(2)	large_intestine(7)	central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(574-576)aafs		coiled-coil domain containing 15																																				SO:0001589	frameshift_variant	80071					centrosome		g.chr11:124845049delA	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.574delA	11.37:g.124845049delA	ENSP00000341684:p.Lys194fs					CCDC15_ENST00000344762.5_Frame_Shift_Del_p.K194fs	p.K194fs			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	5	833	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	194					Q9H8U7	Frame_Shift_Del	DEL	ENST00000344762.5	37	c.574delA	CCDS44756.1																																																																																				0.373	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		9	38						9	38	---	---	---	---
CACNB3	784	broad.mit.edu	37	12	49221502	49221504	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49221502_49221504delGGA	ENST00000301050.2	+	13	1474_1476	c.1275_1277delGGA	c.(1273-1278)ctggag>ctg	p.E427del	CACNB3_ENST00000547392.1_In_Frame_Del_p.E400del|CACNB3_ENST00000536187.2_In_Frame_Del_p.E426del|CACNB3_ENST00000547230.1_In_Frame_Del_p.E386del|CACNB3_ENST00000540990.1_In_Frame_Del_p.E414del	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	427					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCGCCACCTGGAGGAGGACTAT	0.631																																						ENST00000301050.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(1273-1278)ctg>ct		calcium channel, voltage-dependent, beta 3 subunit	Verapamil(DB00661)																																			SO:0001651	inframe_deletion	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49221502_49221504delGGA		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1275_1277delGGA	12.37:g.49221508_49221510delGGA	ENSP00000301050:p.Glu427del					CACNB3_ENST00000547392.1_In_Frame_Del_p.LE398del|CACNB3_ENST00000547230.1_In_Frame_Del_p.LE384del|CACNB3_ENST00000540990.1_In_Frame_Del_p.LE412del|CACNB3_ENST00000536187.2_In_Frame_Del_p.LE424del	p.LE425del	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN			13	1474_1476	+			425					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	In_Frame_Del	DEL	ENST00000301050.2	37	c.1275_1277delGGA	CCDS8769.1																																																																																				0.631	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			33	148						33	148	---	---	---	---
OAS1	4938	broad.mit.edu	37	12	113354493	113354494	+	Frame_Shift_Ins	INS	-	-	A	rs372813548		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:113354493_113354494insA	ENST00000202917.5	+	4	1097_1098	c.834_835insA	c.(835-837)aaafs	p.K279fs	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Frame_Shift_Ins_p.K279fs|OAS1_ENST00000551241.1_Frame_Shift_Ins_p.K279fs|OAS1_ENST00000452357.2_Frame_Shift_Ins_p.K279fs	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	279					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						ATTATGACTTTAAAAACCCCAT	0.431																																						ENST00000452357.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						c.(832-837)ttaaaafs		2'-5'-oligoadenylate synthetase 1, 40/46kDa																																				SO:0001589	frameshift_variant	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113354493_113354494insA	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.839dupA	12.37:g.113354498_113354498dupA	ENSP00000202917:p.Lys279fs					OAS1_ENST00000551241.1_Frame_Shift_Ins_p.LK278fs|OAS1_ENST00000202917.5_Frame_Shift_Ins_p.LK278fs|OAS1_ENST00000445409.2_Frame_Shift_Ins_p.LK278fs|RP1-71H24.1_ENST00000552784.1_RNA	p.LK278fs	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN			4	1024_1025	+			278					A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Frame_Shift_Ins	INS	ENST00000202917.5	37	c.834_835insA	CCDS41838.1																																																																																				0.431	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			78	124						78	124	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409539	22409539	+	RNA	DEL	C	C	-	rs2178778|rs367992314|rs374912343|rs371270332	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:22409539delC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		ctctctctctctTTTTTTTTT	0.428													|||unknown(STR2?)	2067	0.41274	0.3903	0.4697	5008	,	,		16901	0.3373		0.4573	False		,,,				2504	0.4346					ENST00000390441.2																			0																				20.0	18.0	19.0					14																	22409539		1790	4037	5827			0							g.chr14:22409539delC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409539delC														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.428	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		7	10						7	10	---	---	---	---
GPATCH2L	55668	broad.mit.edu	37	14	76668169	76668173	+	Frame_Shift_Del	DEL	AAGAA	AAGAA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:76668169_76668173delAAGAA	ENST00000261530.7	+	10	1490_1494	c.1424_1428delAAGAA	c.(1423-1428)caagaafs	p.QE475fs	GPATCH2L_ENST00000312858.5_Frame_Shift_Del_p.QE470fs|GPATCH2L_ENST00000556675.1_Intron	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	475								p.E476*(1)									AAAATGCCACAAGAAAAGAGCCCTG	0.488																																						ENST00000261530.7																			1	Substitution - Nonsense(1)	p.E476*(1)	large_intestine(1)								c.(1423-1428)cfs		G patch domain containing 2-like																																				SO:0001589	frameshift_variant	55668							g.chr14:76668169_76668173delAAGAA	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1424_1428delAAGAA	14.37:g.76668169_76668173delAAGAA	ENSP00000261530:p.Gln475fs					GPATCH2L_ENST00000556675.1_Intron|GPATCH2L_ENST00000312858.5_Frame_Shift_Del_p.QE470fs	p.QE475fs	NM_017926.2	NP_060396.2					10	1490_1494	+								B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Frame_Shift_Del	DEL	ENST00000261530.7	37	c.1424_1428delAAGAA	CCDS9848.1																																																																																				0.488	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		40	49						40	49	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	93963615	93963615	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:93963615delG	ENST00000393151.2	+	7	881	c.881delG	c.(880-882)aggfs	p.R294fs	UNC79_ENST00000256339.4_Frame_Shift_Del_p.R117fs|UNC79_ENST00000553484.1_Frame_Shift_Del_p.R294fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.R294fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	294					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGCGAGTACAGGGGGTTGCAG	0.493																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(880-882)agfs		unc-79 homolog (C. elegans)							57.0	54.0	55.0					14																	93963615		2203	4300	6503	SO:0001589	frameshift_variant	57578					integral to membrane		g.chr14:93963615delG	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.881delG	14.37:g.93963615delG	ENSP00000376858:p.Arg294fs					UNC79_ENST00000393151.2_Frame_Shift_Del_p.R294fs|UNC79_ENST00000256339.4_Frame_Shift_Del_p.R117fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.R294fs	p.R294fs			Q9P2D8	UNC79_HUMAN			7	1035	+			294					B5MDL6|Q6ZUT7	Frame_Shift_Del	DEL	ENST00000393151.2	37	c.881delG																																																																																					0.493	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		28	16						28	16	---	---	---	---
ZNF770	54989	broad.mit.edu	37	15	35274621	35274621	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:35274621delT	ENST00000356321.4	-	3	1359	c.1015delA	c.(1015-1017)atcfs	p.I339fs		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	339					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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTGGCCAAGATTTTTTTAACA	0.328																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1015-1017)tcfs		zinc finger protein 770							25.0	27.0	26.0					15																	35274621		2196	4290	6486	SO:0001589	frameshift_variant	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274621delT	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1015delA	15.37:g.35274621delT	ENSP00000348673:p.Ile339fs						p.I339fs	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1359	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	339					Q6ZMZ6|Q9NWV2	Frame_Shift_Del	DEL	ENST00000356321.4	37	c.1015delA	CCDS10042.1																																																																																				0.328	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		11	26						11	26	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81592468	81592469	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:81592468_81592469insC	ENST00000302987.4	+	13	2801_2802	c.2801_2802insC	c.(2800-2805)ctccccfs	p.LP934fs	IL16_ENST00000394660.2_Frame_Shift_Ins_p.LP934fs|IL16_ENST00000394652.2_Frame_Shift_Ins_p.LP233fs			Q14005	IL16_HUMAN	interleukin 16	934				L -> F (in Ref. 1; AAD04636). {ECO:0000305}.	immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGAAAACTCTCCCCCCTGGCC	0.644																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2800-2802)cccfs		interleukin 16																																				SO:0001589	frameshift_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592468_81592469insC	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2807dupC	15.37:g.81592474_81592474dupC	ENSP00000302935:p.Leu934fs					IL16_ENST00000394652.2_Frame_Shift_Ins_p.P233fs|IL16_ENST00000302987.4_Frame_Shift_Ins_p.P934fs	p.P934fs	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	3161_3162	+			934	L -> F (in Ref. 1; AAD04636).				A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Frame_Shift_Ins	INS	ENST00000302987.4	37	c.2801_2802insC	CCDS42069.1																																																																																				0.644	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		10	157						10	157	---	---	---	---
GNPTG	84572	broad.mit.edu	37	16	1400178	1400180	+	5'Flank	DEL	AAG	AAG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1400178_1400180delAAG	ENST00000204679.4	+	0	0				TSR3_ENST00000007390.2_In_Frame_Del_p.F194del	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit						carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GTTCAGGTCCAAGAAGCCCTTGC	0.591																																						ENST00000007390.2																			0											c.(580-585)ttg>tt		TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																																				SO:0001631	upstream_gene_variant	115939							g.chr16:1400178_1400180delAAG	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835		16.37:g.1400181_1400183delAAG	Exception_encountered						p.FL194del	NM_001001410.2	NP_001001410.1					4	688_690	-								B2R556|Q6XYD7|Q96L13	In_Frame_Del	DEL	ENST00000204679.4	37	c.582_584delCTT	CCDS10436.1																																																																																				0.591	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		21	44						21	44	---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53260306	53260307	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53260306_53260307insA	ENST00000398510.3	+	4	2012_2013	c.1925_1926insA	c.(1924-1929)agaaaafs	p.RK642fs	CHD9_ENST00000564845.1_Frame_Shift_Ins_p.RK642fs|CHD9_ENST00000447540.1_Frame_Shift_Ins_p.RK642fs|CHD9_ENST00000566029.1_Frame_Shift_Ins_p.RK642fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	642	Lys-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAAATTAAAAGAAAAAAATACG	0.292																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(1924-1926)aaafs		chromodomain helicase DNA binding protein 9																																				SO:0001589	frameshift_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53260306_53260307insA	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1932dupA	16.37:g.53260313_53260313dupA	ENSP00000381522:p.Arg642fs					CHD9_ENST00000564845.1_Frame_Shift_Ins_p.K642fs|CHD9_ENST00000447540.1_Frame_Shift_Ins_p.K642fs|CHD9_ENST00000398510.3_Frame_Shift_Ins_p.K642fs	p.K642fs			Q3L8U1	CHD9_HUMAN			5	2134_2135	+		all_cancers(37;0.0212)	642			Lys-rich.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Frame_Shift_Ins	INS	ENST00000398510.3	37	c.1925_1926insA																																																																																					0.292	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		8	28						8	28	---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67572573	67572575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67572573_67572575delAGG	ENST00000379312.3	+	3	236_238	c.115_117delAGG	c.(115-117)aggdel	p.R39del	CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Splice_Site_p.K35del|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000540839.3_Splice_Site_p.K55del|FAM65A_ENST00000428437.2_Splice_Site_p.K49del|FAM65A_ENST00000422602.2_Splice_Site_p.K55del	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	39						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCTCTCCTTCAGGAGTTTCCCGG	0.66																																						ENST00000379312.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(115-117)del		family with sequence similarity 65, member A																																				SO:0001651	inframe_deletion	79567					cytoplasm	binding	g.chr16:67572573_67572575delAGG	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.115_117delAGG	16.37:g.67572573_67572575delAGG	ENSP00000368614:p.Arg39del					FAM65A_ENST00000540839.3_Splice_Site_p.55_splice|FAM65A_ENST00000428437.2_Splice_Site_p.49_splice|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000422602.2_Splice_Site_p.55_splice|FAM65A_ENST00000042381.4_Splice_Site_p.35_splice|FAM65A_ENST00000566522.1_Intron	p.R39del	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	3	236_238	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	39					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	In_Frame_Del	DEL	ENST00000379312.3	37	c.115_117delAGG	CCDS54028.1																																																																																				0.660	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		87	91						87	91	---	---	---	---
NUDT7	283927	broad.mit.edu	37	16	77775744	77775744	+	Frame_Shift_Del	DEL	A	A	-	rs201164809		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:77775744delA	ENST00000268533.5	+	4	683	c.614delA	c.(613-615)gaafs	p.E205fs	NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000437314.3_Frame_Shift_Del_p.E152fs|NUDT7_ENST00000564085.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	205					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						ATCATTTTGGAAAAAAAACCC	0.383																																						ENST00000268533.5																			0				breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						c.(613-615)gafs		nudix (nucleoside diphosphate linked moiety X)-type motif 7				14,3534		7,0,1767	65.0	61.0	62.0			3.2	0.3	16		63	34,7822		16,2,3910	no	frameshift	NUDT7	NM_001105663.2		23,2,5677	A1A1,A1R,RR		0.4328,0.3946,0.4209			77775744	48,11356	1842	4100	5942	SO:0001589	frameshift_variant	283927				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	g.chr16:77775744delA	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.614delA	16.37:g.77775744delA	ENSP00000268533:p.Glu205fs					NUDT7_ENST00000437314.3_Frame_Shift_Del_p.E152fs|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA	p.E205fs	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN			4	683	+			205					B4DLE5|H3BUB8	Frame_Shift_Del	DEL	ENST00000268533.5	37	c.614delA	CCDS42195.1																																																																																				0.383	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			43	53						43	53	---	---	---	---
ATMIN	23300	broad.mit.edu	37	16	81076800	81076801	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:81076800_81076801delTG	ENST00000299575.4	+	4	721_722	c.697_698delTG	c.(697-699)tgtfs	p.C233fs	ATMIN_ENST00000564241.1_Frame_Shift_Del_p.C77fs|ATMIN_ENST00000566488.1_Frame_Shift_Del_p.C77fs|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	233	Required for formation of RAD51 foci.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATGGAAAACTGTGCACAAAAC	0.376																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(229-231)tfs		ATM interactor				12,4252		4,4,2124						5.8	0.8			93	8,8246		4,0,4123	no	frameshift	ATMIN	NM_015251.2		8,4,6247	A1A1,A1R,RR		0.0969,0.2814,0.1598				20,12498				SO:0001589	frameshift_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81076800_81076801delTG	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.697_698delTG	16.37:g.81076802_81076803delTG	ENSP00000299575:p.Cys233fs					ATMIN_ENST00000299575.4_Frame_Shift_Del_p.C233fs|ATMIN_ENST00000564241.1_Frame_Shift_Del_p.C77fs|ATMIN_ENST00000539819.1_3'UTR	p.C77fs			O43313	ATMIN_HUMAN			3	1192_1193	+			233					A8K4H8|Q68DC9	Frame_Shift_Del	DEL	ENST00000299575.4	37	c.229_230delTG	CCDS32494.1																																																																																				0.376	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		22	70						22	70	---	---	---	---
GPS2	2874	broad.mit.edu	37	17	7216932	7216935	+	Frame_Shift_Del	DEL	AGTG	AGTG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7216932_7216935delAGTG	ENST00000380728.2	-	7	886_889	c.586_589delCACT	c.(586-591)cactatfs	p.HY196fs	GPS2_ENST00000389167.5_Frame_Shift_Del_p.HY196fs|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Frame_Shift_Del_p.HY196fs			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	196					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTGGGCCCATAGTGAGGTGGGGGC	0.574											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380728.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24						c.(586-591)atfs		G protein pathway suppressor 2																																				SO:0001589	frameshift_variant	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7216932_7216935delAGTG	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.586_589delCACT	17.37:g.7216932_7216935delAGTG	ENSP00000370104:p.His196fs		OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	GPS2_ENST00000389167.5_Frame_Shift_Del_p.HY196fs|GPS2_ENST00000391950.3_Frame_Shift_Del_p.HY196fs|RP11-542C16.2_ENST00000575474.1_3'UTR	p.HY196fs			Q13227	GPS2_HUMAN			7	886_889	-		Prostate(122;0.157)	196					B4DXA1|Q6FHM8	Frame_Shift_Del	DEL	ENST00000380728.2	37	c.586_589delCACT	CCDS11100.1																																																																																				0.574	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		103	38						103	38	---	---	---	---
KCNAB3	9196	broad.mit.edu	37	17	7829255	7829255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7829255delC	ENST00000303790.2	-	6	487	c.488delG	c.(487-489)ggafs	p.G164fs	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	164					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TTACTGTCCTCCCCAAAAAAT	0.498																																						ENST00000303790.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8						c.(487-489)gafs		potassium voltage-gated channel, shaker-related subfamily, beta member 3							123.0	119.0	120.0					17																	7829255		2203	4300	6503	SO:0001589	frameshift_variant	9196					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr17:7829255delC	AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"""Potassium channels"", ""Aldo-keto reductases"""	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.488delG	17.37:g.7829255delC	ENSP00000302719:p.Gly164fs					RP11-1099M24.7_ENST00000573621.1_3'UTR	p.G164fs	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN			6	487	-		Prostate(122;0.157)	164					Q4VAW0	Frame_Shift_Del	DEL	ENST00000303790.2	37	c.488delG	CCDS11124.1																																																																																				0.498	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		10	201						10	201	---	---	---	---
ALDH3A1	218	broad.mit.edu	37	17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:19641649delG	ENST00000457500.2	-	9	1663	c.1334delC	c.(1333-1335)ccgfs	p.P445fs	ALDH3A1_ENST00000444455.1_Frame_Shift_Del_p.P445fs|ALDH3A1_ENST00000225740.6_Frame_Shift_Del_p.P445fs|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Frame_Shift_Del_p.P381fs|ALDH3A1_ENST00000494157.2_Frame_Shift_Del_p.P372fs	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	445					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		GGCCGGGCTCGGGGGGTATCT	0.627																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1333-1335)cgfs		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						57.0	64.0	62.0					17																	19641649		2203	4300	6503	SO:0001589	frameshift_variant	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19641649delG	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1334delC	17.37:g.19641649delG	ENSP00000411821:p.Pro445fs					ALDH3A1_ENST00000395555.3_Frame_Shift_Del_p.P381fs|ALDH3A1_ENST00000444455.1_Frame_Shift_Del_p.P445fs|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000494157.2_Frame_Shift_Del_p.P372fs|ALDH3A1_ENST00000225740.6_Frame_Shift_Del_p.P445fs	p.P445fs	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	9	1663	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		445					A8K828|Q9BT37	Frame_Shift_Del	DEL	ENST00000457500.2	37	c.1334delC	CCDS11212.1																																																																																				0.627	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		139	68						139	68	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.0?(8)|p.?(4)|p.F1247fs*16(1)	soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD000973|CD972354	NF1	D		c.(3736-3741)ctfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29562657_29562660delTGTT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3737_3740delTGTT	17.37:g.29562657_29562660delTGTT	ENSP00000351015:p.Leu1246fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	28	4120_4123	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1246			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.3737_3740delTGTT	CCDS42292.1																																																																																				0.412	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		236	87						236	87	---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37420470	37420471	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37420470_37420471delAT	ENST00000264658.6	-	14	1420_1421	c.1160_1161delAT	c.(1159-1161)tatfs	p.Y387fs	FBXL20_ENST00000394294.3_Frame_Shift_Del_p.Y355fs|FBXL20_ENST00000583610.1_Frame_Shift_Del_p.Y387fs|FBXL20_ENST00000577399.1_Frame_Shift_Del_p.Y389fs	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	387					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GCTGGCAGTCATAGAGTTCTAT	0.48																																						ENST00000264658.6																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1159-1161)tfs		F-box and leucine-rich repeat protein 20																																				SO:0001589	frameshift_variant	84961					cytoplasm		g.chr17:37420470_37420471delAT	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.1160_1161delAT	17.37:g.37420470_37420471delAT	ENSP00000264658:p.Tyr387fs					FBXL20_ENST00000577399.1_Frame_Shift_Del_p.Y389fs|FBXL20_ENST00000583610.1_Frame_Shift_Del_p.Y387fs|FBXL20_ENST00000394294.3_Frame_Shift_Del_p.Y355fs	p.Y387fs	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		14	1420_1421	-			387					A8K729|Q38J52	Frame_Shift_Del	DEL	ENST00000264658.6	37	c.1160_1161delAT	CCDS32640.1																																																																																				0.480	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		166	77						166	77	---	---	---	---
PLEKHH3	79990	broad.mit.edu	37	17	40820242	40820244	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40820242_40820244delGGA	ENST00000591022.1	-	13	2670_2672	c.2283_2285delTCC	c.(2281-2286)cctcca>cca	p.761_762PP>P	PLEKHH3_ENST00000412503.1_In_Frame_Del_p.584_585PP>P|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_In_Frame_Del_p.758_759PP>P	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	761					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTCTTGGCATGGAGGAGAAGAGC	0.65																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(2272-2277)cca>cc		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3																																				SO:0001651	inframe_deletion	79990				signal transduction	cytoskeleton		g.chr17:40820242_40820244delGGA	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.2283_2285delTCC	17.37:g.40820245_40820247delGGA	ENSP00000468678:p.Pro762del					PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_In_Frame_Del_p.PP761del|PLEKHH3_ENST00000412503.1_In_Frame_Del_p.PP584del	p.PP758del			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	13	2704_2706	-		Breast(137;0.00116)	761			Poly-Ser.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	In_Frame_Del	DEL	ENST00000591022.1	37	c.2274_2276delTCC	CCDS11434.1																																																																																				0.650	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		40	15						40	15	---	---	---	---
MGAT5B	146664	broad.mit.edu	37	17	74878237	74878237	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74878237delG	ENST00000569840.2	+	3	760	c.186delG	c.(184-186)atgfs	p.M62fs	MGAT5B_ENST00000565675.1_Frame_Shift_Del_p.M62fs|MGAT5B_ENST00000428789.2_Frame_Shift_Del_p.M73fs|MGAT5B_ENST00000301618.4_Frame_Shift_Del_p.M62fs|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	62					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACAGTGATGGGGGGCCCCG	0.662																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(184-186)atfs		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							23.0	23.0	23.0					17																	74878237		2199	4282	6481	SO:0001589	frameshift_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74878237delG	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.186delG	17.37:g.74878237delG	ENSP00000456037:p.Met62fs					MGAT5B_ENST00000301618.4_Frame_Shift_Del_p.M62fs|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Frame_Shift_Del_p.M73fs|MGAT5B_ENST00000565675.1_Frame_Shift_Del_p.M62fs	p.M62fs	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			3	760	+			62					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Frame_Shift_Del	DEL	ENST00000569840.2	37	c.186delG	CCDS59299.1																																																																																				0.662	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		7	79						7	79	---	---	---	---
HGS	9146	broad.mit.edu	37	17	79660715	79660717	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79660715_79660717delAGG	ENST00000329138.4	+	10	908_910	c.773_775delAGG	c.(772-777)caggag>cag	p.E262del		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	262	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ACGGCCCTGCAGGAGGAGGAGGA	0.729																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(772-777)cag>c		hepatocyte growth factor-regulated tyrosine kinase substrate																																				SO:0001651	inframe_deletion	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79660715_79660717delAGG	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.773_775delAGG	17.37:g.79660724_79660726delAGG	ENSP00000331201:p.Glu262del						p.QE258del	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		10	908_910	+	all_neural(118;0.0878)|all_lung(278;0.23)		258			Interaction with SNX1 (By similarity).		Q9NR36	In_Frame_Del	DEL	ENST00000329138.4	37	c.773_775delAGG	CCDS11784.1																																																																																				0.729	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		6	5						6	5	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61388269	61388270	+	RNA	INS	-	-	AC	rs147551453|rs532463085		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:61388269_61388270insAC	ENST00000382749.5	+	0	1019				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGTGCATGTTAACACACACACA	0.386																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)																																						89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61388269_61388270insAC			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61388278_61388279dupAC						SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	836	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	INS	ENST00000382749.5	37																																																																																						0.386	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		4	5						4	5	---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77896426	77896426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:77896426delA	ENST00000262198.4	+	4	3585	c.3130delA	c.(3130-3132)aaafs	p.K1045fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1045					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATTAGATCCTAAAAAATATGA	0.358																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3130-3132)aafs		ADNP homeobox 2							42.0	47.0	45.0					18																	77896426		2202	4300	6502	SO:0001589	frameshift_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896426delA	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3130delA	18.37:g.77896426delA	ENSP00000262198:p.Lys1045fs						p.K1045fs	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3585	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	1045					A8K951|O94943|Q9H9P3	Frame_Shift_Del	DEL	ENST00000262198.4	37	c.3130delA	CCDS32853.1																																																																																				0.358	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		34	29						34	29	---	---	---	---
MCOLN1	57192	broad.mit.edu	37	19	7594070	7594072	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7594070_7594072delCTT	ENST00000264079.6	+	10	1343_1345	c.1218_1220delCTT	c.(1216-1221)accttc>acc	p.F408del		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	408			Missing (in MLIV; mild psychomotor involvement; does not affect channel activity; affects channel inhibition by low pH; still localizes to late endosomes). {ECO:0000269|PubMed:11030752, ECO:0000269|PubMed:11317355, ECO:0000269|PubMed:12182165}.		calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTACCTGACCTTCTTCCACAAC	0.581																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1216-1221)acc>ac		mucolipin 1																																				SO:0001651	inframe_deletion	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7594070_7594072delCTT	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1218_1220delCTT	19.37:g.7594073_7594075delCTT	ENSP00000264079:p.Phe408del						p.TF406del	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			10	1343_1345	+			406					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	In_Frame_Del	DEL	ENST00000264079.6	37	c.1218_1220delCTT	CCDS12180.1																																																																																				0.581	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		21	83						21	83	---	---	---	---
MAVS	57506	broad.mit.edu	37	20	3845039	3845041	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:3845039_3845041delCTC	ENST00000428216.2	+	6	890_892	c.762_764delCTC	c.(760-765)ttctcc>ttc	p.S258del	MAVS_ENST00000416600.2_In_Frame_Del_p.S117del|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	258					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCACCTCCTTCTCCTCCTCATCC	0.626																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(760-765)ttc>tt		mitochondrial antiviral signaling protein																																				SO:0001651	inframe_deletion	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3845039_3845041delCTC	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.762_764delCTC	20.37:g.3845045_3845047delCTC	ENSP00000401980:p.Ser258del					MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_In_Frame_Del_p.FS113del	p.FS254del	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			6	890_892	+			254					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	In_Frame_Del	DEL	ENST00000428216.2	37	c.762_764delCTC	CCDS33437.1																																																																																				0.626	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		53	115						53	115	---	---	---	---
GTSF1L	149699	broad.mit.edu	37	20	42354972	42354972	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:42354972delA	ENST00000373003.1	-	1	666	c.363delT	c.(361-363)tttfs	p.F121fs	GTSF1L_ENST00000373005.2_Frame_Shift_Del_p.F96fs	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	121							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTTTTGAGGAAAAAAAGTCT	0.493																																						ENST00000373003.1																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(361-363)ttfs		gametocyte specific factor 1-like							100.0	92.0	94.0					20																	42354972		2203	4300	6503	SO:0001589	frameshift_variant	149699						metal ion binding	g.chr20:42354972delA	AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 65"", ""family with sequence similarity 112, member A"""	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.363delT	20.37:g.42354972delA	ENSP00000362094:p.Phe121fs					GTSF1L_ENST00000373005.2_Frame_Shift_Del_p.F96fs	p.F121fs	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		1	666	-		Myeloproliferative disorder(115;0.00452)	121					Q5JWH5	Frame_Shift_Del	DEL	ENST00000373003.1	37	c.363delT	CCDS13323.1																																																																																				0.493	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1	NM_176791		18	112						18	112	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:50400983delC	ENST00000217086.4	-	4	3094	c.2983delG	c.(2983-2985)gttfs	p.V995fs	SALL4_ENST00000395997.3_Frame_Shift_Del_p.V558fs|SALL4_ENST00000371539.3_Frame_Shift_Del_p.V218fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGTAGGAACCCCCCCACTC	0.562																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2983-2985)ttfs		spalt-like transcription factor 4							74.0	70.0	72.0					20																	50400983		2203	4300	6503	SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50400983delC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2983delG	20.37:g.50400983delC	ENSP00000217086:p.Val995fs					SALL4_ENST00000395997.3_Frame_Shift_Del_p.V558fs|SALL4_ENST00000371539.3_Frame_Shift_Del_p.V218fs	p.V995fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			4	3094	-			995					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Del	DEL	ENST00000217086.4	37	c.2983delG	CCDS13438.1																																																																																				0.562	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			24	116						24	116	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57769140	57769140	+	Frame_Shift_Del	DEL	G	G	-	rs55786258	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:57769140delG	ENST00000371030.2	+	1	3066	c.3066delG	c.(3064-3066)ttgfs	p.L1022fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1022							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D1025fs*9(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCACAGTTGGGGGGGGACA	0.682																																						ENST00000371030.2																			1	Insertion - Frameshift(1)	p.D1025fs*9(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3064-3066)ttfs		zinc finger protein 831				21,3757		2,17,1870	19.0	23.0	21.0			-6.1	0.0	20		22	131,7817		51,29,3894	no	frameshift	ZNF831	NM_178457.1		53,46,5764	A1A1,A1R,RR		1.6482,0.5558,1.2963			57769140	152,11574	1993	4167	6160	SO:0001589	frameshift_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769140delG	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3066delG	20.37:g.57769140delG	ENSP00000360069:p.Leu1022fs						p.L1022fs	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3066	+	all_lung(29;0.0085)		1022					Q5TDR4|Q8TCP0	Frame_Shift_Del	DEL	ENST00000371030.2	37	c.3066delG	CCDS42894.1																																																																																				0.682	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		18	57						18	57	---	---	---	---
TNFRSF6B	8771	broad.mit.edu	37	20	62328415	62328417	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62328415_62328417delGAG	ENST00000369996.1	+	1	395_397	c.295_297delGAG	c.(295-297)gagdel	p.E101del	RTEL1-TNFRSF6B_ENST00000482936.1_Stop_Codon_Del|RTEL1_ENST00000318100.4_Stop_Codon_Del|ARFRP1_ENST00000485858.1_5'Flank	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	101					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CGGGGAGCGTGAGGAGGAGGCAC	0.67																																						ENST00000369996.1																			0				central_nervous_system(1)|lung(2)|skin(1)	4						c.(295-297)del		tumor necrosis factor receptor superfamily, member 6b, decoy																																				SO:0001651	inframe_deletion	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62328415_62328417delGAG	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.295_297delGAG	20.37:g.62328421_62328423delGAG	ENSP00000359013:p.Glu101del					RTEL1-TNFRSF6B_ENST00000482936.1_Stop_Codon_Del|RTEL1_ENST00000318100.4_Stop_Codon_Del	p.E101del	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		1	395_397	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		101						In_Frame_Del	DEL	ENST00000369996.1	37	c.295_297delGAG	CCDS13532.1																																																																																				0.670	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			9	35						9	35	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47954526	47954527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47954526_47954527insG	ENST00000417564.2	+	13	1589_1590	c.1568_1569insG	c.(1567-1572)gtggggfs	p.VG523fs	Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000427143.2_Frame_Shift_Ins_p.VG459fs|DIP2A_ENST00000466639.1_Frame_Shift_Ins_p.VG480fs|DIP2A_ENST00000457905.3_Frame_Shift_Ins_p.VG523fs|DIP2A_ENST00000318711.7_Frame_Shift_Ins_p.VG524fs|DIP2A_ENST00000435722.3_Frame_Shift_Ins_p.VG523fs|DIP2A_ENST00000400274.1_Frame_Shift_Ins_p.VG519fs			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	523					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCAGTACGGTGGGGGTCACAG	0.535																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1570-1572)gggfs		DIP2 disco-interacting protein 2 homolog A (Drosophila)																																				SO:0001589	frameshift_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47954526_47954527insG	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1573dupG	21.37:g.47954531_47954531dupG	ENSP00000392066:p.Val523fs					DIP2A_ENST00000466639.1_Frame_Shift_Ins_p.G480fs|DIP2A_ENST00000427143.2_Frame_Shift_Ins_p.G459fs|DIP2A_ENST00000417564.2_Frame_Shift_Ins_p.G523fs|DIP2A_ENST00000400274.1_Frame_Shift_Ins_p.G519fs|DIP2A_ENST00000457905.3_Frame_Shift_Ins_p.G523fs|DIP2A_ENST00000435722.3_Frame_Shift_Ins_p.G523fs	p.G524fs	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	13	1754_1755	+	Breast(49;0.0933)		523					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Frame_Shift_Ins	INS	ENST00000417564.2	37	c.1571_1572insG	CCDS46655.1																																																																																				0.535	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		26	32						26	32	---	---	---	---
YWHAH	7533	broad.mit.edu	37	22	32352168	32352170	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32352168_32352170delCTC	ENST00000248975.5	+	2	403_405	c.130_132delCTC	c.(130-132)ctcdel	p.L45del	snoU13_ENST00000459049.1_RNA|YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	45					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						AGATCGAAATCTCCTCTCTGTGG	0.438																																					Ovarian(98;460 2060 9263 44007)	ENST00000248975.5																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.(130-132)del		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide																																				SO:0001651	inframe_deletion	7533				glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding	g.chr22:32352168_32352170delCTC	X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.130_132delCTC	22.37:g.32352171_32352173delCTC	ENSP00000248975:p.Leu45del					YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	p.L45del	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN			2	403_405	+			45						In_Frame_Del	DEL	ENST00000248975.5	37	c.130_132delCTC	CCDS13901.1																																																																																				0.438	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405		18	118						18	118	---	---	---	---
CSF2RB	1439	broad.mit.edu	37	22	37333546	37333546	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37333546delC	ENST00000403662.3	+	14	1918	c.1696delC	c.(1696-1698)cccfs	p.P567fs	CSF2RB_ENST00000536485.1_Frame_Shift_Del_p.P514fs|CSF2RB_ENST00000406230.1_Frame_Shift_Del_p.P573fs|CSF2RB_ENST00000262825.5_Frame_Shift_Del_p.P573fs			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	567					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CACAGAGCAGCCCCCCAGCCC	0.637																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1714-1716)ccfs		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						29.0	31.0	30.0					22																	37333546		2203	4300	6503	SO:0001589	frameshift_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333546delC	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1696delC	22.37:g.37333546delC	ENSP00000384053:p.Pro567fs					CSF2RB_ENST00000406230.1_Frame_Shift_Del_p.P573fs|CSF2RB_ENST00000403662.3_Frame_Shift_Del_p.P567fs|CSF2RB_ENST00000536485.1_Frame_Shift_Del_p.P514fs	p.P573fs	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			14	1931	+			567					Q5JZI1|Q6ICE0	Frame_Shift_Del	DEL	ENST00000403662.3	37	c.1714delC	CCDS13936.1																																																																																				0.637	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		7	52						7	52	---	---	---	---
SHROOM2	357	broad.mit.edu	37	X	9900853	9900853	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:9900853delC	ENST00000380913.3	+	6	3620	c.3530delC	c.(3529-3531)gccfs	p.A1177fs	SHROOM2_ENST00000418909.2_Frame_Shift_Del_p.A12fs|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1177					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCCAGTTCGCCCCCCAGAAA	0.627																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(3529-3531)gcfs		shroom family member 2							39.0	37.0	38.0					X																	9900853		2201	4299	6500	SO:0001589	frameshift_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9900853delC	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3530delC	X.37:g.9900853delC	ENSP00000370299:p.Ala1177fs					SHROOM2_ENST00000418909.2_Frame_Shift_Del_p.A12fs|SHROOM2_ENST00000493668.1_3'UTR	p.A1177fs	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			6	3620	+		Hepatocellular(5;0.000888)	1177					B9EIQ7	Frame_Shift_Del	DEL	ENST00000380913.3	37	c.3530delC	CCDS14135.1																																																																																				0.627	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		23	43						23	43	---	---	---	---
ACOT9	23597	broad.mit.edu	37	X	23723697	23723698	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:23723697_23723698insA	ENST00000336430.7	-	12	1051_1052	c.920_921insT	c.(919-921)ttcfs	p.F307fs	ACOT9_ENST00000379295.1_Frame_Shift_Ins_p.F247fs|ACOT9_ENST00000379303.5_Frame_Shift_Ins_p.F316fs	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	307					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AGATCCGATTGAAAATGTTCCG	0.401																																						ENST00000379303.5																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						c.(946-948)taafs		acyl-CoA thioesterase 9																																				SO:0001589	frameshift_variant	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23723697_23723698insA	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.921dupT	X.37:g.23723701_23723701dupA	ENSP00000336580:p.Phe307fs					ACOT9_ENST00000379295.1_Frame_Shift_Ins_p.*247fs|ACOT9_ENST00000336430.7_Frame_Shift_Ins_p.*307fs	p.*316fs	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN			13	1075_1076	-			307					B3KNC9|B7ZM94	Frame_Shift_Ins	INS	ENST00000336430.7	37	c.947_948insT	CCDS35216.1																																																																																				0.401	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		97	36						97	36	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		8	564						8	564	---	---	---	---
SLC6A14	11254	broad.mit.edu	37	X	115582769	115582770	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:115582769_115582770insT	ENST00000371900.4	+	8	1181_1182	c.1093_1094insT	c.(1093-1095)attfs	p.I365fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	365					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TGGATTTGCTATTTTTTCTATA	0.332																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1093-1095)tttfs		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115582769_115582770insT	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1099dupT	X.37:g.115582775_115582775dupT	ENSP00000360967:p.Ile365fs						p.F365fs	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN			8	1181_1182	+			365					Q5H942	Frame_Shift_Ins	INS	ENST00000371900.4	37	c.1093_1094insT	CCDS14570.1																																																																																				0.332	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			157	49						157	49	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132161205	132161205	+	Frame_Shift_Del	DEL	A	A	-	rs61758857		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:132161205delA	ENST00000511190.1	-	6	1513	c.1044delT	c.(1042-1044)tttfs	p.F348fs	USP26_ENST00000406273.1_Frame_Shift_Del_p.F348fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.F348fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	348	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.F348fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGGTATCTTTAAAAAAAAGTA	0.388																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			1	Deletion - Frameshift(1)	p.F348fs*7(1)	large_intestine(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	GRCh37	CM077651	USP26	M	rs61758857	c.(1042-1044)ttfs		ubiquitin specific peptidase 26							35.0	37.0	36.0					X																	132161205		2198	4295	6493	SO:0001589	frameshift_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161205delA	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1044delT	X.37:g.132161205delA	ENSP00000423390:p.Phe348fs					USP26_ENST00000406273.1_Frame_Shift_Del_p.F348fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.F348fs	p.F348fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	1513	-	Acute lymphoblastic leukemia(192;0.000127)		348					B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	c.1044delT	CCDS14635.1																																																																																				0.388	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		84	37						84	37	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138869332	138869334	+	Splice_Site	DEL	TCT	TCT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:138869332_138869334delTCT	ENST00000327569.3	-	15	1697_1699	c.1599_1601delAGA	c.(1597-1602)gaagaa>gaa	p.533_534EE>E	ATP11C_ENST00000361648.2_Splice_Site_p.533_534EE>E|ATP11C_ENST00000370543.1_Splice_Site_p.533_534EE>E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Splice_Site_p.533_534EE>E|ATP11C_ENST00000370557.1_Splice_Site_p.530_531EE>E	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	533					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGCTACTTACTCTTCTATTTCTT	0.345																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.e15+1		ATPase, class VI, type 11C																																				SO:0001630	splice_region_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138869332_138869334delTCT	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1601+1AGA>-	X.37:g.138869335_138869337delTCT						ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Splice_Site_p.EE533_splice|ATP11C_ENST00000327569.3_Splice_Site_p.EE533_splice|ATP11C_ENST00000361648.2_Splice_Site_p.EE533_splice|ATP11C_ENST00000359686.2_Splice_Site_p.EE533_splice	p.EE530_splice			Q8NB49	AT11C_HUMAN			15	2617_2619	-	Acute lymphoblastic leukemia(192;0.000127)		533					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Splice_Site	DEL	ENST00000327569.3	37	c.1592_splice	CCDS14668.1																																																																																				0.345	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	In_Frame_Del	28	14						28	14	---	---	---	---
FAM50A	9130	broad.mit.edu	37	X	153678435	153678437	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153678435_153678437delGGA	ENST00000393600.3	+	11	998_1000	c.888_890delGGA	c.(886-891)gtggag>gtg	p.E297del		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	297					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E297*(1)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCCACTGTGGAGAAGGATGAG	0.616																																						ENST00000393600.3																			1	Substitution - Nonsense(1)	p.E297*(1)	lung(1)	breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15						c.(886-891)gtg>gt		family with sequence similarity 50, member A																																				SO:0001651	inframe_deletion	9130				spermatogenesis	nucleus		g.chrX:153678435_153678437delGGA	BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.888_890delGGA	X.37:g.153678435_153678437delGGA	ENSP00000377225:p.Glu297del						p.VE296del	NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN			11	998_1000	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		296					A8KAQ4|B2R997|Q5HY37|Q6PJH5	In_Frame_Del	DEL	ENST00000393600.3	37	c.888_890delGGA	CCDS14751.1																																																																																				0.616	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2	NM_004699		93	63						93	63	---	---	---	---
