#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
ATP10B	23120	broad.mit.edu	37	5	159992485	159992485	+	Missense_Mutation	SNP	C	C	T	rs534112987		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:159992485C>T	ENST00000327245.5	-	26	5207	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1454					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCTGGGATCGGCGATGGCT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		19769	0.001		0.0	False		,,,				2504	0.0					ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(4360-4362)cGa>cAa		ATPase, class V, type 10B							132.0	126.0	128.0					5																	159992485		2026	4198	6224	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159992485C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4361G>A	5.37:g.159992485C>T	ENSP00000313600:p.Arg1454Gln						p.R1454Q	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	5207	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1454					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.4361G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285426	0.80803	.	.	ENSG00000118322	ENST00000327245	T	0.49432	0.78	5.46	5.46	0.80206	.	0.000000	0.50627	D	0.000102	T	0.65176	0.2666	M	0.62723	1.935	0.31934	N	0.611763	D	0.89917	1.0	D	0.76575	0.988	T	0.70081	-0.4970	9	.	.	.	.	14.7921	0.69851	0.0:1.0:0.0:0.0	.	1454	O94823	AT10B_HUMAN	Q	1454	ENSP00000313600:R1454Q	.	R	-	2	0	ATP10B	159925063	0.995000	0.38212	0.998000	0.56505	0.992000	0.81027	4.086000	0.57664	2.559000	0.86315	0.563000	0.77884	CGA		0.532	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		4	165	0	0	0	0.184627	0	4	165				
IGSF10	285313	broad.mit.edu	37	3	151163868	151163868	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:151163868T>C	ENST00000282466.3	-	4	3900	c.3901A>G	c.(3901-3903)Att>Gtt	p.I1301V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1301					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCTTATAATACTAGGAAGC	0.443																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(3901-3903)Att>Gtt		immunoglobulin superfamily, member 10							256.0	238.0	244.0					3																	151163868		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163868T>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3901A>G	3.37:g.151163868T>C	ENSP00000282466:p.Ile1301Val						p.I1301V	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3900	-			1301					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3901A>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	0.314	-0.966112	0.02232	.	.	ENSG00000152580	ENST00000282466	T	0.68624	-0.34	4.41	-3.71	0.04424	.	1.625110	0.04129	N	0.317669	T	0.46560	0.1399	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.17379	-1.0371	10	0.36615	T	0.2	.	1.2034	0.01890	0.1359:0.1719:0.2789:0.4132	.	1301	Q6WRI0	IGS10_HUMAN	V	1301	ENSP00000282466:I1301V	ENSP00000282466:I1301V	I	-	1	0	IGSF10	152646558	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.009000	0.03660	-0.397000	0.07691	-0.504000	0.04507	ATT		0.443	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		86	94	0	0	0	0.870114	0	86	94				
PASK	23178	broad.mit.edu	37	2	242080067	242080067	+	Missense_Mutation	SNP	C	C	T	rs199606444		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:242080067C>T	ENST00000405260.1	-	3	996	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	PASK_ENST00000544142.1_Intron|PASK_ENST00000403638.3_Missense_Mutation_p.E100K|PASK_ENST00000358649.4_Missense_Mutation_p.E100K|PASK_ENST00000234040.4_Missense_Mutation_p.E100K|PASK_ENST00000539818.1_Intron	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	100					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.E100K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCCCGCGGTTCGGACGGGTCC	0.597													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18474	0.0		0.0	False		,,,				2504	0.0					ENST00000403638.3																			2	Substitution - Missense(2)	p.E100K(2)	endometrium(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(298-300)Gaa>Aaa		PAS domain containing serine/threonine kinase							73.0	71.0	72.0					2																	242080067		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242080067C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.298G>A	2.37:g.242080067C>T	ENSP00000384016:p.Glu100Lys					PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000405260.1_Missense_Mutation_p.E100K|PASK_ENST00000234040.4_Missense_Mutation_p.E100K|PASK_ENST00000358649.4_Missense_Mutation_p.E100K	p.E100K	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	3	389	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	100					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.298G>A	CCDS2545.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.811	0.935201	0.18206	.	.	ENSG00000115687	ENST00000234040;ENST00000405260;ENST00000358649;ENST00000403638;ENST00000452907	T;T;T;T	0.66280	-0.2;-0.2;-0.15;0.8	4.67	2.85	0.33270	.	0.549745	0.16193	N	0.225290	T	0.36991	0.0987	N	0.08118	0	0.09310	N	0.999997	B;B;B;B	0.10296	0.0;0.001;0.003;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25293	-1.0136	10	0.66056	D	0.02	.	4.3947	0.11356	0.178:0.6292:0.0:0.1928	.	100;100;100;100	B7Z7R6;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;PASK_HUMAN	K	100	ENSP00000234040:E100K;ENSP00000384016:E100K;ENSP00000351475:E100K;ENSP00000384438:E100K	ENSP00000234040:E100K	E	-	1	0	PASK	241728740	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.427000	0.02441	0.496000	0.27904	0.561000	0.74099	GAA		0.597	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		8	78	0	0	0	0.335167	0	8	78				
SUPT16H	11198	broad.mit.edu	37	14	21829070	21829070	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr14:21829070T>A	ENST00000216297.2	-	17	2329	c.1991A>T	c.(1990-1992)gAt>gTt	p.D664V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	664					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AATGTATAGATCTTTCAGTTT	0.418																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1990-1992)gAt>gTt		suppressor of Ty 16 homolog (S. cerevisiae)							119.0	113.0	115.0					14																	21829070		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21829070T>A	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1991A>T	14.37:g.21829070T>A	ENSP00000216297:p.Asp664Val						p.D664V	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	17	2329	-	all_cancers(95;0.00115)		664					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.1991A>T	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.682938	0.88542	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.54	5.54	0.83059	FACT complex subunit Spt16p/Cdc68p (1);	0.000000	0.85682	D	0.000000	D	0.85605	0.5735	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89130	0.3509	9	0.87932	D	0	-21.6738	14.654	0.68820	0.0:0.0:0.0:1.0	.	664	Q9Y5B9	SP16H_HUMAN	V	664	.	ENSP00000216297:D664V	D	-	2	0	SUPT16H	20898910	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.221000	0.78016	2.111000	0.64477	0.402000	0.26972	GAT		0.418	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			7	55	0	0	0	0.278610	0	7	55				
CRY2	1408	broad.mit.edu	37	11	45869058	45869058	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:45869058C>G	ENST00000443527.2	+	1	102	c.80C>G	c.(79-81)gCg>gGg	p.A27G	CRY2_ENST00000473199.1_3'UTR|CRY2_ENST00000417225.2_Intron	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	6	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						gcgactgtggcgacggcggca	0.721																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(79-81)gCg>gGg		cryptochrome 2 (photolyase-like)							6.0	11.0	9.0					11																	45869058		2065	4132	6197	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45869058C>G	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.80C>G	11.37:g.45869058C>G	ENSP00000406751:p.Ala27Gly					CRY2_ENST00000417225.2_Intron|CRY2_ENST00000473199.1_3'UTR	p.A27G	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			1	102	+			6			DNA photolyase.		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.80C>G	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382197	0.61845	.	.	ENSG00000121671	ENST00000443527	.	.	.	4.7	-9.4	0.00616	.	1.386070	0.04902	N	0.451529	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14952	-1.0454	9	0.21540	T	0.41	-0.0045	10.0038	0.41944	0.0:0.5382:0.3193:0.1425	.	27	B4DZD6	.	G	27	.	ENSP00000406751:A27G	A	+	2	0	CRY2	45825634	0.001000	0.12720	0.000000	0.03702	0.716000	0.41182	-0.729000	0.04920	-2.215000	0.00733	0.561000	0.74099	GCG		0.721	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		4	10	0	0	0	0.184627	0	4	10				
XRCC4	7518	broad.mit.edu	37	5	82499425	82499425	+	Silent	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:82499425G>T	ENST00000511817.1	+	5	617	c.537G>T	c.(535-537)cgG>cgT	p.R179R	XRCC4_ENST00000282268.3_Silent_p.R179R|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Silent_p.R179R|XRCC4_ENST00000338635.6_Silent_p.R179R			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	179					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TTTATAAGCGGTTTATTCTGG	0.313								Non-homologous end-joining																														ENST00000282268.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17						c.(535-537)cgG>cgT	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 4							90.0	98.0	95.0					5																	82499425		2203	4300	6503	SO:0001819	synonymous_variant	7518				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding	g.chr5:82499425G>T	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.537G>T	5.37:g.82499425G>T						XRCC4_ENST00000511817.1_Silent_p.R179R|XRCC4_ENST00000338635.6_Silent_p.R179R|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Silent_p.R179R	p.R179R	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)	5	712	+		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)	179					A8K3X4|Q9BS72|Q9UP94	Silent	SNP	ENST00000511817.1	37	c.537G>T	CCDS4059.1																																																																																				0.313	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		10	83	1	0	4.68919e-08	0.361761	5.29817e-08	10	83				
FAM47A	158724	broad.mit.edu	37	X	34150304	34150304	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chrX:34150304G>A	ENST00000346193.3	-	1	143	c.92C>T	c.(91-93)gCg>gTg	p.A31V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	31										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						CTTGCACTTCGCGAAGCACTT	0.612																																						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.(91-93)gCg>gTg		family with sequence similarity 47, member A							55.0	54.0	54.0					X																	34150304		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150304G>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.92C>T	X.37:g.34150304G>A	ENSP00000345029:p.Ala31Val						p.A31V	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	143	-			31					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.92C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340880	0.41498	.	.	ENSG00000185448	ENST00000346193	T	0.20069	2.1	1.41	1.41	0.22369	.	.	.	.	.	T	0.17534	0.0421	M	0.66939	2.045	0.09310	N	1	P	0.38280	0.625	B	0.28709	0.093	T	0.17289	-1.0374	9	0.51188	T	0.08	.	5.8027	0.18422	0.0:0.0:1.0:0.0	.	31	Q5JRC9	FA47A_HUMAN	V	31	ENSP00000345029:A31V	ENSP00000345029:A31V	A	-	2	0	FAM47A	34060225	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.120000	0.10660	1.007000	0.39238	0.544000	0.68410	GCG		0.612	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		19	31	0	0	0	0.575678	0	19	31				
ANKHD1	54882	broad.mit.edu	37	5	139887388	139887388	+	Silent	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:139887388T>A	ENST00000360839.2	+	20	3724	c.3570T>A	c.(3568-3570)ggT>ggA	p.G1190G	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1190G|ANKHD1_ENST00000297183.6_Silent_p.G1190G	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1190						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAAACTAGGTATTTCTCCCC	0.368																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(3568-3570)ggT>ggA		ankyrin repeat and KH domain containing 1							76.0	73.0	74.0					5																	139887388		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139887388T>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3570T>A	5.37:g.139887388T>A						ANKHD1_ENST00000360839.2_Silent_p.G1190G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1190G	p.G1190G	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		20	3694	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.3570T>A	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	T	9.567	1.120000	0.20877	.	.	ENSG00000131503	ENST00000246149	.	.	.	5.68	2.23	0.28157	.	.	.	.	.	T	0.43233	0.1238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24261	-1.0165	4	.	.	.	.	1.5537	0.02580	0.1354:0.1497:0.273:0.4419	.	.	.	.	E	416	.	.	V	+	2	0	ANKHD1	139867572	0.976000	0.34144	1.000000	0.80357	0.998000	0.95712	0.146000	0.16180	0.158000	0.19367	0.524000	0.50904	GTA		0.368	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		6	111	0	0	0	0.278610	0	6	111				
DNAH9	1770	broad.mit.edu	37	17	11535997	11535997	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:11535997C>A	ENST00000262442.4	+	8	1680	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	DNAH9_ENST00000454412.2_Missense_Mutation_p.P538T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	538	Stem. {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)		TGATGATGCACCTGGCTTGGA	0.458																																						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.(1612-1614)Cct>Act		dynein, axonemal, heavy chain 9							121.0	117.0	119.0					17																	11535997		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.chr17:11535997C>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.1612C>A	17.37:g.11535997C>A	ENSP00000262442:p.Pro538Thr					DNAH9_ENST00000454412.2_Missense_Mutation_p.P538T	p.P538T	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)	8	1680	+		Breast(5;0.0122)|all_epithelial(5;0.131)	538			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1612C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	0.248	-1.008810	0.02112	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.53640	0.61;0.61	5.18	0.188	0.15114	Dynein heavy chain, domain-1 (1);	4.199780	0.00669	N	0.000623	T	0.33118	0.0852	N	0.25890	0.77	0.24229	N	0.995409	B	0.14012	0.009	B	0.15870	0.014	T	0.11012	-1.0605	10	0.22109	T	0.4	.	4.1496	0.10232	0.0:0.3632:0.2968:0.3399	.	538	Q9NYC9	DYH9_HUMAN	T	538	ENSP00000262442:P538T;ENSP00000414874:P538T	ENSP00000262442:P538T	P	+	1	0	DNAH9	11476722	0.000000	0.05858	0.021000	0.16686	0.098000	0.18820	0.024000	0.13555	0.599000	0.29845	-0.143000	0.13931	CCT		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		47	78	1	0	1.56989e-16	0.870114	1.84569e-16	47	78				
ZDHHC16	84287	broad.mit.edu	37	10	99212187	99212187	+	Missense_Mutation	SNP	G	G	A	rs151287328		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr10:99212187G>A	ENST00000370854.3	+	4	643	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000393760.1_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.A87T|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.A152T	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	152					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GAATGATATCGCCACCGTCTC	0.532																																						ENST00000393760.1																			0				kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14						c.(454-456)Gcc>Acc		zinc finger, DHHC-type containing 16		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	136.0	124.0	129.0		454,454,454,259,454	5.0	0.7	10	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ZDHHC16	NM_032327.2,NM_198043.1,NM_198044.1,NM_198045.1,NM_198046.1	58,58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	152/378,152/362,152/339,87/297,152/378	99212187	1,13005	2203	4300	6503	SO:0001583	missense	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99212187G>A	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.454G>A	10.37:g.99212187G>A	ENSP00000359891:p.Ala152Thr					ZDHHC16_ENST00000370854.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.A152T|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.A87T|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000495735.1_3'UTR	p.A152T	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	5	803	+		Colorectal(252;0.0846)	152					D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	c.454G>A	CCDS7460.1	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111705	0.20714	0.0	1.16E-4	ENSG00000171307	ENST00000370854;ENST00000393760;ENST00000414567;ENST00000370846;ENST00000352634;ENST00000353979;ENST00000370842;ENST00000345745;ENST00000433086	T;T;T;T;T;T;T;T	0.72725	0.63;0.63;-0.09;-0.68;0.32;0.32;-0.07;0.34	5.95	5.03	0.67393	.	0.159012	0.56097	N	0.000027	T	0.48714	0.1515	N	0.16266	0.395	0.35015	D	0.757283	B;B;B;B;B;B;B;B	0.13145	0.0;0.0;0.007;0.004;0.0;0.001;0.003;0.0	B;B;B;B;B;B;B;B	0.09377	0.002;0.002;0.004;0.003;0.002;0.002;0.002;0.001	T	0.50939	-0.8768	10	0.15066	T	0.55	-14.7595	6.6928	0.23183	0.1698:0.148:0.6822:0.0	.	152;87;152;127;152;87;152;152	B4DNL2;E9PCL9;B1AMU0;B1AMU1;Q969W1-3;Q969W1-4;Q969W1-2;Q969W1	.;.;.;.;.;.;.;ZDH16_HUMAN	T	152;152;152;152;152;152;152;87;87	ENSP00000359891:A152T;ENSP00000377357:A152T;ENSP00000400719:A152T;ENSP00000359883:A152T;ENSP00000345383:A152T;ENSP00000359879:A152T;ENSP00000304487:A87T;ENSP00000398532:A87T	ENSP00000304487:A87T	A	+	1	0	ZDHHC16	99202177	0.998000	0.40836	0.653000	0.29593	0.895000	0.52256	4.575000	0.60908	1.482000	0.48325	0.561000	0.74099	GCC		0.532	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		16	87	0	0	0	0.608945	0	16	87				
CHRNA4	1137	broad.mit.edu	37	20	61981681	61981681	+	Missense_Mutation	SNP	G	G	A	rs267606048		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr20:61981681G>A	ENST00000370263.4	-	5	1303	c.1082C>T	c.(1081-1083)cCg>cTg	p.P361L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	361					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.P361L(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GACCACGGACGGCCGCTTCAT	0.662																																						ENST00000370263.4																			3	Substitution - Missense(3)	p.P361L(3)	prostate(3)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1081-1083)cCg>cTg		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						74.0	55.0	62.0					20																	61981681		2203	4300	6503	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981681G>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1082C>T	20.37:g.61981681G>A	ENSP00000359285:p.Pro361Leu					CHRNA4_ENST00000463705.1_5'UTR	p.P361L	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1303	-	all_cancers(38;1.71e-10)		361					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1082C>T	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825807	0.90955	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.72725	-0.68	4.85	4.85	0.62838	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.946	D	0.85975	0.1479	10	0.87932	D	0	.	18.3259	0.90254	0.0:0.0:1.0:0.0	.	290;361	Q4VAQ5;P43681	.;ACHA4_HUMAN	L	267;361;290	ENSP00000359285:P361L	ENSP00000359280:P267L	P	-	2	0	CHRNA4	61452125	1.000000	0.71417	0.980000	0.43619	0.807000	0.45602	7.719000	0.84751	2.390000	0.81377	0.655000	0.94253	CCG		0.662	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			3	47	0	0	0	0.115264	0	3	47				
MECOM	2122	broad.mit.edu	37	3	168834358	168834358	+	Silent	SNP	C	C	G	rs199815249	byFrequency	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:168834358C>G	ENST00000464456.1	-	7	1938	c.738G>C	c.(736-738)gcG>gcC	p.A246A	MECOM_ENST00000468789.1_Silent_p.A246A|MECOM_ENST00000460814.1_Silent_p.A246A|MECOM_ENST00000392736.3_Silent_p.A246A|MECOM_ENST00000494292.1_Silent_p.A434A|MECOM_ENST00000433243.2_Silent_p.A247A|MECOM_ENST00000264674.3_Silent_p.A311A|MECOM_ENST00000472280.1_Silent_p.A247A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCCACCTGCCGCAAAATGGT	0.468																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(736-738)gcG>gcC		MDS1 and EVI1 complex locus							357.0	306.0	323.0					3																	168834358		2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168834358C>G	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.738G>C	3.37:g.168834358C>G						MECOM_ENST00000494292.1_Silent_p.A434A|MECOM_ENST00000460814.1_Silent_p.A246A|MECOM_ENST00000433243.2_Silent_p.A247A|MECOM_ENST00000472280.1_Silent_p.A247A|MECOM_ENST00000392736.3_Silent_p.A246A|MECOM_ENST00000468789.1_Silent_p.A246A|MECOM_ENST00000264674.3_Silent_p.A311A	p.A246A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	1938	-			0					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.738G>C	CCDS54669.1																																																																																				0.468	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		12	159	0	0	0	0.411799	0	12	159				
C6orf62	81688	broad.mit.edu	37	6	24714586	24714586	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:24714586G>C	ENST00000378119.4	-	3	2556	c.389C>G	c.(388-390)tCt>tGt	p.S130C	C6orf62_ENST00000540769.1_Missense_Mutation_p.S72C|C6orf62_ENST00000378102.3_Missense_Mutation_p.S101C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	130						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TTTCCACCTAGAAAACAGGAG	0.343																																						ENST00000378119.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						c.(388-390)tCt>tGt		chromosome 6 open reading frame 62							77.0	79.0	78.0					6																	24714586		2203	4300	6503	SO:0001583	missense	81688					intracellular		g.chr6:24714586G>C	AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.389C>G	6.37:g.24714586G>C	ENSP00000367359:p.Ser130Cys					C6orf62_ENST00000378102.3_Missense_Mutation_p.S101C|C6orf62_ENST00000540769.1_Missense_Mutation_p.S72C	p.S130C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN			3	2556	-			130					Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	c.389C>G	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	G	33	5.205256	0.95033	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.39787	1.06;1.06;1.06	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.51973	-0.8637	10	0.87932	D	0	-15.0205	20.0529	0.97634	0.0:0.0:1.0:0.0	.	130	Q9GZU0	CF062_HUMAN	C	130;72;101	ENSP00000367359:S130C;ENSP00000446225:S72C;ENSP00000367342:S101C	ENSP00000367342:S101C	S	-	2	0	C6orf62	24822565	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.767000	0.98960	2.814000	0.96858	0.591000	0.81541	TCT		0.343	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		15	81	0	0	0	0.539581	0	15	81				
ITGA11	22801	broad.mit.edu	37	15	68620499	68620499	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:68620499C>A	ENST00000315757.7	-	16	2089	c.2003G>T	c.(2002-2004)tGc>tTc	p.C668F	ITGA11_ENST00000423218.2_Missense_Mutation_p.C668F	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	668					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.C668F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGCGGCCAGGCAGGTGGCATC	0.577																																						ENST00000423218.2																			1	Substitution - Missense(1)	p.C668F(1)	urinary_tract(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(2002-2004)tGc>tTc		integrin, alpha 11	Tirofiban(DB00775)						62.0	70.0	67.0					15																	68620499		1992	4157	6149	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68620499C>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2003G>T	15.37:g.68620499C>A	ENSP00000327290:p.Cys668Phe					ITGA11_ENST00000315757.7_Missense_Mutation_p.C668F	p.C668F			Q9UKX5	ITA11_HUMAN			16	2098	-			668					J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.2003G>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563945	0.86335	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.61392	0.11;0.11	5.69	5.69	0.88448	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.77246	0.4102	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78254	-0.2275	10	0.62326	D	0.03	.	18.803	0.92025	0.0:1.0:0.0:0.0	.	668;668	A8K8T0;Q9UKX5	.;ITA11_HUMAN	F	668;668;303	ENSP00000327290:C668F;ENSP00000403392:C668F	ENSP00000327290:C668F	C	-	2	0	ITGA11	66407553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.211000	0.77933	2.692000	0.91855	0.555000	0.69702	TGC		0.577	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		5	68	1	0	4.096e-09	0.217242	4.68884e-09	5	68				
DISP1	84976	broad.mit.edu	37	1	223163994	223163994	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:223163994G>A	ENST00000284476.6	+	4	731	c.567G>A	c.(565-567)ccG>ccA	p.P189P	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	189					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)		CCGACTGGCCGGTGGTGGTCT	0.493																																						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.(565-567)ccG>ccA		dispatched homolog 1 (Drosophila)							247.0	219.0	229.0					1																	223163994		2203	4300	6503	SO:0001819	synonymous_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.chr1:223163994G>A	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.567G>A	1.37:g.223163994G>A						DISP1_ENST00000495684.1_3'UTR	p.P189P	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	4	731	+			189					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.567G>A	CCDS1536.1																																																																																				0.493	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		4	188	0	0	0	0.184627	0	4	188				
LRP10	26020	broad.mit.edu	37	14	23344794	23344794	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr14:23344794T>C	ENST00000359591.4	+	5	1328	c.637T>C	c.(637-639)Tca>Cca	p.S213P	LRP10_ENST00000546834.1_Missense_Mutation_p.S213P	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	213	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACACCTAGCCTCAGTCTCCCA	0.627																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(637-639)Tca>Cca		low density lipoprotein receptor-related protein 10							101.0	91.0	94.0					14																	23344794		2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23344794T>C	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.637T>C	14.37:g.23344794T>C	ENSP00000352601:p.Ser213Pro					LRP10_ENST00000546834.1_Missense_Mutation_p.S213P	p.S213P	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1328	+	all_cancers(95;4.69e-05)		213			CUB 2.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.637T>C	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.470|3.470	-0.108054|-0.108054	0.06924|0.06924	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	.|T;T	.|0.27557	.|1.66;1.66	5.2|5.2	2.79|2.79	0.32731|0.32731	.|CUB (5);	.|0.361075	.|0.23021	.|N	.|0.052857	T|T	0.13628|0.13628	0.0330|0.0330	N|N	0.10809|0.10809	0.05|0.05	0.09310|0.09310	N|N	1|1	.|B	.|0.17268	.|0.021	.|B	.|0.20767	.|0.031	T|T	0.16424|0.16424	-1.0403|-1.0403	5|10	.|0.26408	.|T	.|0.33	-7.6918|-7.6918	4.6223|4.6223	0.12461|0.12461	0.0:0.1589:0.1802:0.6609|0.0:0.1589:0.1802:0.6609	.|.	.|213	.|Q7Z4F1	.|LRP10_HUMAN	P|P	114|213	.|ENSP00000352601:S213P;ENSP00000447559:S213P	.|ENSP00000352601:S213P	L|S	+|+	2|1	0|0	LRP10|LRP10	22414634|22414634	0.000000|0.000000	0.05858|0.05858	0.894000|0.894000	0.35097|0.35097	0.134000|0.134000	0.20937|0.20937	0.120000|0.120000	0.15647|0.15647	0.986000|0.986000	0.38683|0.38683	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.627	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			3	189	0	0	0	0.150653	0	3	189				
CXCR2	3579	broad.mit.edu	37	2	218999837	218999837	+	Missense_Mutation	SNP	G	G	C	rs201513058		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:218999837G>C	ENST00000318507.2	+	3	740	c.313G>C	c.(313-315)Gcc>Ccc	p.A105P		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	105					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCCCATCTGGGCCGCCTCCAA	0.552																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(313-315)Gcc>Ccc		chemokine (C-X-C motif) receptor 2							101.0	99.0	100.0					2																	218999837		2203	4298	6501	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999837G>C	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.313G>C	2.37:g.218999837G>C	ENSP00000319635:p.Ala105Pro						p.A105P	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	740	+			105					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.313G>C	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204389	0.79127	.	.	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.121291	0.56097	D	0.000040	T	0.72961	0.3526	H	0.95611	3.695	0.41269	D	0.986838	D	0.89917	1.0	D	0.81914	0.995	T	0.80926	-0.1164	10	0.72032	D	0.01	.	12.7008	0.57032	0.0:0.0:0.8349:0.1651	.	105	P25025	CXCR2_HUMAN	P	105	ENSP00000413686:A105P;ENSP00000392348:A105P;ENSP00000319635:A105P;ENSP00000415148:A105P;ENSP00000392698:A105P	ENSP00000319635:A105P	A	+	1	0	CXCR2	218708082	1.000000	0.71417	0.993000	0.49108	0.916000	0.54674	9.663000	0.98605	2.529000	0.85273	0.456000	0.33151	GCC		0.552	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		52	86	0	0	0	0.870114	0	52	86				
PRG4	10216	broad.mit.edu	37	1	186276370	186276370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:186276370G>A	ENST00000445192.2	+	7	1564	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T	PRG4_ENST00000367485.4_Missense_Mutation_p.A414T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.A464T|PRG4_ENST00000367483.4_Missense_Mutation_p.A466T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	507	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTGCACCCACCAC	0.652																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1519-1521)Gca>Aca		proteoglycan 4							115.0	113.0	114.0					1																	186276370		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276370G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1519G>A	1.37:g.186276370G>A	ENSP00000399679:p.Ala507Thr					PRG4_ENST00000367486.3_Missense_Mutation_p.A464T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.A466T|PRG4_ENST00000367485.4_Missense_Mutation_p.A414T	p.A507T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1564	+			507			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1519G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	g	7.089	0.571822	0.13623	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.07444	3.21;3.34;3.19;3.35	3.3	-2.18	0.07037	.	.	.	.	.	T	0.03263	0.0095	N	0.12182	0.205	0.22066	N	0.999381	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.45659	-0.9246	8	.	.	.	.	1.2927	0.02063	0.4774:0.1585:0.2038:0.1603	.	373;414;507;466	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	464;373;466;414;507	ENSP00000356456:A464T;ENSP00000356453:A466T;ENSP00000356455:A414T;ENSP00000399679:A507T	.	A	+	1	0	PRG4	184542993	0.104000	0.21937	0.000000	0.03702	0.007000	0.05969	0.000000	0.12993	-0.344000	0.08338	-0.738000	0.03535	GCA		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	124	0	0	0	0.150653	0	4	124				
ATP8B4	79895	broad.mit.edu	37	15	50212487	50212487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:50212487C>A	ENST00000284509.6	-	18	2020	c.1879G>T	c.(1879-1881)Gaa>Taa	p.E627*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E627*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	627						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCTATTCGTTCATCCCTCTCT	0.413																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(1879-1881)Gaa>Taa		ATPase, class I, type 8B, member 4							196.0	181.0	186.0					15																	50212487		2196	4295	6491	SO:0001587	stop_gained	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50212487C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1879G>T	15.37:g.50212487C>A	ENSP00000284509:p.Glu627*					ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E627*	p.E627*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	18	2020	-		all_lung(180;0.00183)	627					Q9H727	Nonsense_Mutation	SNP	ENST00000284509.6	37	c.1879G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	37	6.028551	0.97216	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.49	4.52	0.55395	.	0.301292	0.34555	N	0.003879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	13.4632	0.61239	0.0:0.8416:0.1584:0.0	.	.	.	.	X	627	.	ENSP00000284509:E627X	E	-	1	0	ATP8B4	47999779	0.998000	0.40836	1.000000	0.80357	0.803000	0.45373	3.720000	0.54933	2.587000	0.87381	0.561000	0.74099	GAA		0.413	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		4	176	1	0	0.014758	0.184627	0.0158512	4	176				
ACTL6B	51412	broad.mit.edu	37	7	100246363	100246363	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:100246363A>T	ENST00000160382.5	-	6	657	c.551T>A	c.(550-552)gTt>gAt	p.V184D		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	184					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTGCTGCAGAACGTAGCCGTC	0.627																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(550-552)gTt>gAt		actin-like 6B							71.0	66.0	68.0					7																	100246363		2203	4300	6503	SO:0001583	missense	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100246363A>T	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.551T>A	7.37:g.100246363A>T	ENSP00000160382:p.Val184Asp						p.V184D	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			6	657	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		184					A4D2D0|O75421	Missense_Mutation	SNP	ENST00000160382.5	37	c.551T>A	CCDS5702.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.346432	0.82022	.	.	ENSG00000077080	ENST00000160382	D	0.95069	-3.6	5.12	5.12	0.69794	.	0.080947	0.48286	D	0.000192	D	0.97523	0.9189	M	0.91140	3.18	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.98266	1.0501	10	0.87932	D	0	.	12.9182	0.58216	1.0:0.0:0.0:0.0	.	184	O94805	ACL6B_HUMAN	D	184	ENSP00000160382:V184D	ENSP00000160382:V184D	V	-	2	0	ACTL6B	100084299	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	7.083000	0.76859	2.148000	0.66965	0.528000	0.53228	GTT		0.627	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		5	86	0	0	0	0.248553	0	5	86				
SSPO	23145	broad.mit.edu	37	7	149489766	149489766	+	RNA	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:149489766G>A	ENST00000378016.2	+	0	5822							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)			AACAACCCCCGCCCCTCCGGC	0.697																																						ENST00000378016.2																			0													SCO-spondin							20.0	28.0	25.0					7																	149489766		1990	4134	6124			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489766G>A	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.149489766G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	5822	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				29	29	0	0	0	0.740014	0	29	29				
ATM	472	broad.mit.edu	37	11	108164131	108164131	+	Missense_Mutation	SNP	A	A	T	rs368830730		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:108164131A>T	ENST00000452508.2	+	32	4892	c.4703A>T	c.(4702-4704)cAt>cTt	p.H1568L	ATM_ENST00000278616.4_Missense_Mutation_p.H1568L			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1568					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTTCCTGACCATGTTGTTTTT	0.308			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4702-4704)cAt>cTt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							105.0	111.0	109.0					11																	108164131		2200	4295	6495	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108164131A>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4703A>T	11.37:g.108164131A>T	ENSP00000388058:p.His1568Leu	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.H1568L	p.H1568L	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	31	5088	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1568					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.4703A>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	8.774	0.926526	0.18056	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01369	4.97;4.97	5.31	3.0	0.34707	Armadillo-type fold (1);	0.319320	0.37136	N	0.002229	T	0.01029	0.0034	L	0.28274	0.84	0.26706	N	0.971072	B	0.02656	0.0	B	0.01281	0.0	T	0.47560	-0.9108	10	0.11485	T	0.65	.	4.6875	0.12764	0.709:0.0:0.1505:0.1405	.	1568	Q13315	ATM_HUMAN	L	1568	ENSP00000278616:H1568L;ENSP00000388058:H1568L	ENSP00000278616:H1568L	H	+	2	0	ATM	107669341	0.135000	0.22499	1.000000	0.80357	0.999000	0.98932	0.707000	0.25704	0.965000	0.38133	0.533000	0.62120	CAT		0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		8	102	0	0	0	0.307466	0	8	102				
TSNAXIP1	55815	broad.mit.edu	37	16	67859051	67859051	+	Silent	SNP	G	G	T	rs367742568		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:67859051G>T	ENST00000388833.3	+	7	905	c.528G>T	c.(526-528)ctG>ctT	p.L176L	TSNAXIP1_ENST00000561639.1_Silent_p.L230L|TSNAXIP1_ENST00000415766.3_Silent_p.L161L|TSNAXIP1_ENST00000562321.1_3'UTR	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGACCAAACTGAGGAAGAACT	0.607																																						ENST00000388833.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22						c.(526-528)ctG>ctT		translin-associated factor X interacting protein 1							75.0	77.0	77.0					16																	67859051		2047	4189	6236	SO:0001819	synonymous_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67859051G>T	AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.528G>T	16.37:g.67859051G>T						TSNAXIP1_ENST00000415766.3_Silent_p.L161L|TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000561639.1_Silent_p.L230L	p.L176L	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	7	905	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	176						Silent	SNP	ENST00000388833.3	37	c.528G>T	CCDS10846.2																																																																																				0.607	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268876.2	NM_018430		5	72	1	0	0.00116845	0.217242	0.00128677	5	72				
MRPL19	9801	broad.mit.edu	37	2	75879653	75879653	+	Silent	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:75879653T>C	ENST00000393909.2	+	4	370	c.345T>C	c.(343-345)agT>agC	p.S115S	MRPL19_ENST00000358788.6_Silent_p.S115S|MRPL19_ENST00000409374.1_Silent_p.S115S	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	115					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						TTGTAGGAAGTATTCTTCGTG	0.383																																						ENST00000393909.2																			0				kidney(1)|large_intestine(1)|lung(6)	8						c.(343-345)agT>agC		mitochondrial ribosomal protein L19							126.0	115.0	118.0					2																	75879653		1830	4076	5906	SO:0001819	synonymous_variant	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75879653T>C	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.345T>C	2.37:g.75879653T>C						MRPL19_ENST00000358788.6_Silent_p.S115S|MRPL19_ENST00000409374.1_Silent_p.S115S	p.S115S	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN			4	370	+			115					Q53TX9|Q96Q52	Silent	SNP	ENST00000393909.2	37	c.345T>C	CCDS1960.2																																																																																				0.383	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		62	61	0	0	0	0.870114	0	62	61				
MIA3	375056	broad.mit.edu	37	1	222835673	222835673	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:222835673A>G	ENST00000344922.5	+	26	5286	c.5261A>G	c.(5260-5262)aAg>aGg	p.K1754R	RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Splice_Site_p.K632R|MIA3_ENST00000344441.6_Splice_Site_p.K1754R|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1754	Pro-rich.			K -> R (in Ref. 2; BAH12416). {ECO:0000305}.	chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GATGAAGGCAAGGTAAATGCA	0.428																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.e26+1		melanoma inhibitory activity family, member 3							148.0	143.0	145.0					1																	222835673		1894	4112	6006	SO:0001630	splice_region_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222835673A>G		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5262+1A>G	1.37:g.222835673A>G						MIA3_ENST00000344441.6_Splice_Site_p.K1754_splice|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Splice_Site_p.K632_splice	p.K1754_splice	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	26	5286	+			1754	K -> R (in Ref. 2; BAH12416).		Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Splice_Site	SNP	ENST00000344922.5	37	c.5262_splice	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.143907	0.37825	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.40225	1.04;1.04;1.42	5.59	3.12	0.35913	.	.	.	.	.	T	0.24736	0.0600	L	0.36672	1.1	0.28416	N	0.917948	B;B	0.27997	0.197;0.071	B;B	0.27887	0.084;0.039	T	0.21586	-1.0241	9	0.09084	T	0.74	.	1.9501	0.03364	0.5511:0.1376:0.0816:0.2297	.	632;1754	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	R	1754;1754;1695;632;632	ENSP00000340900:K1754R;ENSP00000340587:K1754R;ENSP00000345866:K632R	ENSP00000284471:K632R	K	+	2	0	MIA3	220902296	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	2.963000	0.49184	1.046000	0.40249	-0.280000	0.10049	AAG		0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	Missense_Mutation	4	236	0	0	0	0.184627	0	4	236				
MLF2	8079	broad.mit.edu	37	12	6858044	6858044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:6858044G>A	ENST00000203630.5	-	8	1308	c.664C>T	c.(664-666)Cga>Tga	p.R222*	MLF2_ENST00000542154.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000435120.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000539187.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000564181.1_5'Flank			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	222					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						TCCGCCCTTCGTCCCCCAGCC	0.711																																						ENST00000203630.5																			0				kidney(2)|large_intestine(3)|lung(4)	9						c.(664-666)Cga>Tga		myeloid leukemia factor 2							21.0	23.0	22.0					12																	6858044		2198	4282	6480	SO:0001587	stop_gained	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6858044G>A	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.664C>T	12.37:g.6858044G>A	ENSP00000203630:p.Arg222*					MLF2_ENST00000539187.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000435120.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000542154.1_Nonsense_Mutation_p.R222*	p.R222*			Q15773	MLF2_HUMAN			8	1308	-			222						Nonsense_Mutation	SNP	ENST00000203630.5	37	c.664C>T	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485219	0.44147	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.	.	.	5.08	4.09	0.47781	.	0.210963	0.41001	D	0.000964	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1897	0.81977	0.0:0.0:0.8577:0.1423	.	.	.	.	X	222	.	ENSP00000203630:R222X	R	-	1	2	MLF2	6728305	0.813000	0.29090	0.713000	0.30519	0.368000	0.29767	2.522000	0.45572	2.365000	0.80145	0.491000	0.48974	CGA		0.711	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			6	35	0	0	0	0.217242	0	6	35				
OR5D16	390144	broad.mit.edu	37	11	55607137	55607137	+	Nonsense_Mutation	SNP	C	C	T	rs542655306		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:55607137C>T	ENST00000378396.1	+	1	910	c.910C>T	c.(910-912)Cga>Tga	p.R304*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	304						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(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GGATGCAATCCGAAAAATAAT	0.333													-|||	1	0.000199681	0.0	0.0	5008	,	,		17709	0.0		0.001	False		,,,				2504	0.0					ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(910-912)Cga>Tga		olfactory receptor, family 5, subfamily D, member 16							29.0	31.0	31.0					11																	55607137		2200	4294	6494	SO:0001587	stop_gained	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55607137C>T	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.910C>T	11.37:g.55607137C>T	ENSP00000367649:p.Arg304*						p.R304*	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	910	+		all_epithelial(135;0.208)	304					Q6IF65|Q96RB4	Nonsense_Mutation	SNP	ENST00000378396.1	37	c.910C>T	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.287337	0.23478	.	.	ENSG00000205029	ENST00000378396	.	.	.	4.18	-0.539	0.11865	.	.	.	.	.	.	.	.	.	.	.	0.41978	D	0.99078	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	3.2619	0.7552	0.00997	0.4339:0.1629:0.2456:0.1576	.	.	.	.	X	304	.	ENSP00000367649:R304X	R	+	1	2	OR5D16	55363713	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	0.178000	0.16820	-0.297000	0.08934	-0.529000	0.04317	CGA		0.333	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		8	38	0	0	0	0.335167	0	8	38				
FAM74A7	100996582	broad.mit.edu	37	9	40716047	40716047	+	lincRNA	SNP	G	G	A	rs529135402	byFrequency	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:40716047G>A	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA														p.V67M(1)									CGGAGAAGACGTGGAAAGAGC	0.547													G|||	2	0.000399361	0.0	0.0	5008	,	,		24081	0.001		0.0	False		,,,				2504	0.001					ENST00000604146.1																			1	Substitution - Missense(1)	p.V67M(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10																																														0							g.chr9:40716047G>A																													9.37:g.40716047G>A								NR_026801.1					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	0	386	+									RNA	SNP	ENST00000432614.1	37																																																																																						0.547	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			20	37	0	0	0	0.706142	0	20	37				
BUD13	84811	broad.mit.edu	37	11	116629027	116629027	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:116629027T>C	ENST00000260210.4	-	7	1480	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	BUD13_ENST00000375445.3_Missense_Mutation_p.K352R	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	486					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTCTGAGTCCTTTTCTGCTTT	0.443																																						ENST00000260210.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(1456-1458)aAg>aGg		BUD13 homolog (S. cerevisiae)							251.0	223.0	232.0					11																	116629027		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116629027T>C	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1457A>G	11.37:g.116629027T>C	ENSP00000260210:p.Lys486Arg					BUD13_ENST00000375445.3_Missense_Mutation_p.K352R	p.K486R	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	7	1480	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	486					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1457A>G	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.345853	0.61073	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.20200	2.12;2.09	5.6	5.6	0.85130	.	0.141094	0.64402	D	0.000007	T	0.24928	0.0605	L	0.31371	0.925	0.37797	D	0.927575	P;P	0.51653	0.734;0.947	B;P	0.51101	0.39;0.659	T	0.07121	-1.0789	10	0.87932	D	0	-22.7288	12.8043	0.57605	0.0:0.0:0.1452:0.8548	.	352;486	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	R	352;486	ENSP00000364594:K352R;ENSP00000260210:K486R	ENSP00000260210:K486R	K	-	2	0	BUD13	116134237	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.165000	0.58196	2.251000	0.74343	0.528000	0.53228	AAG		0.443	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		3	193	0	0	0	0.115264	0	3	193				
FSTL1	11167	broad.mit.edu	37	3	120130764	120130764	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:120130764G>A	ENST00000295633.3	-	4	591	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	FSTL1_ENST00000424703.2_Silent_p.L44L	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	79	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TCTCGATGCAGTTCACAGTGG	0.493																																						ENST00000295633.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20						c.(235-237)Ctg>Ttg		follistatin-like 1							247.0	196.0	213.0					3																	120130764		2203	4300	6503	SO:0001819	synonymous_variant	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120130764G>A	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.235C>T	3.37:g.120130764G>A						FSTL1_ENST00000424703.2_Silent_p.L44L	p.L79L	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	4	591	-			79			Kazal-like.		A8K523|B4DTT5|D3DN90|Q549Z0	Silent	SNP	ENST00000295633.3	37	c.235C>T	CCDS2998.1																																																																																				0.493	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		4	157	0	0	0	0.184627	0	4	157				
ZAN	7455	broad.mit.edu	37	7	100350487	100350487	+	RNA	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:100350487C>T	ENST00000348028.3	+	0	2924				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_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)			ACGGAAAAACCCACCATCCCC	0.502																																						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)							341.0	393.0	377.0					7																	100350487		1864	4100	5964			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350487C>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.100350487C>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2907	+	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	13.49	2.252616	0.39797	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63096	-0.02;-0.02;-0.02	3.25	1.22	0.21188	.	.	.	.	.	T	0.55353	0.1915	L	0.36672	1.1	0.22240	N	0.999267	B;P	0.37612	0.42;0.602	B;B	0.44108	0.312;0.441	T	0.50250	-0.8850	9	0.87932	D	0	.	7.3702	0.26798	0.1906:0.6243:0.1851:0.0	.	920;920	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	920	ENSP00000445943:P920L;ENSP00000445091:P920L;ENSP00000444427:P920L	ENSP00000423579:P920L	P	+	2	0	ZAN	100188423	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.137000	0.15995	0.129000	0.18514	0.655000	0.94253	CCC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	129	0	0	0	0.217242	0	5	129				
ZNF597	146434	broad.mit.edu	37	16	3487540	3487540	+	Splice_Site	SNP	T	T	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:3487540T>G	ENST00000301744.4	-	4	396		c.e4-2			NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597						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(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CTTCCTCTCCTGTTGATAAAA	0.418																																						ENST00000301744.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						c.e4-2		zinc finger protein 597							37.0	38.0	38.0					16																	3487540		2197	4300	6497	SO:0001630	splice_region_variant	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3487540T>G	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.161-2A>C	16.37:g.3487540T>G						LA16c-306E5.2_ENST00000575785.1_RNA		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN			4	396	-									Splice_Site	SNP	ENST00000301744.4	37		CCDS10505.1	.	.	.	.	.	.	.	.	.	.	T	9.966	1.224097	0.22457	.	.	ENSG00000167981	ENST00000301744	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7372	0.46133	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF597	3427541	0.861000	0.29849	1.000000	0.80357	0.816000	0.46133	0.936000	0.28938	2.095000	0.63458	0.523000	0.50628	.		0.418	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457	Intron	13	31	0	0	0	0.457914	0	13	31				
OTOP1	133060	broad.mit.edu	37	4	4199531	4199531	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr4:4199531C>T	ENST00000296358.4	-	5	1054	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	344					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTGCCGACTCGCTCTTGGTC	0.577																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1030-1032)Gag>Aag		otopetrin 1							50.0	49.0	49.0					4																	4199531		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199531C>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1030G>A	4.37:g.4199531C>T	ENSP00000296358:p.Glu344Lys						p.E344K	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1054	-			344					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1030G>A	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082908	0.55861	.	.	ENSG00000163982	ENST00000296358	T	0.19938	2.11	4.8	3.95	0.45737	.	0.058282	0.64402	D	0.000002	T	0.43478	0.1249	M	0.69823	2.125	0.58432	D	0.999999	D	0.76494	0.999	D	0.63793	0.918	T	0.47328	-0.9126	10	0.66056	D	0.02	-5.9162	15.2829	0.73801	0.0:0.8589:0.1411:0.0	.	344	Q7RTM1	OTOP1_HUMAN	K	344	ENSP00000296358:E344K	ENSP00000296358:E344K	E	-	1	0	OTOP1	4250432	1.000000	0.71417	0.998000	0.56505	0.160000	0.22226	4.530000	0.60595	1.137000	0.42214	-0.714000	0.03626	GAG		0.577	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		32	62	0	0	0	0.853193	0	32	62				
TRAFD1	10906	broad.mit.edu	37	12	112572542	112572542	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:112572542C>A	ENST00000257604.5	+	3	665	c.48C>A	c.(46-48)tgC>tgA	p.C16*	TRAFD1_ENST00000412615.2_Splice_Site_p.C16*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	16					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ATTTCCGTAGCAAAAAAGAAA	0.393																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.e3-1		TRAF-type zinc finger domain containing 1							152.0	145.0	148.0					12																	112572542		2203	4300	6503	SO:0001630	splice_region_variant	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112572542C>A	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.48-1C>A	12.37:g.112572542C>A						TRAFD1_ENST00000412615.2_Splice_Site_p.C16_splice	p.C16_splice	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			3	665	+			16					A8K5L6|B4DI89	Splice_Site	SNP	ENST00000257604.5	37	c.47_splice	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342226	0.61073	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	.	.	.	5.37	3.55	0.40652	.	0.155625	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4175	0.32681	0.0:0.7566:0.0:0.2434	.	.	.	.	X	16	.	.	C	+	3	2	TRAFD1	111056925	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	1.966000	0.40481	0.653000	0.30826	-0.266000	0.10368	TGC		0.393	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700	Nonsense_Mutation	4	105	1	0	0.00909568	0.150653	0.00989155	4	105				
SOX11	6664	broad.mit.edu	37	2	5833182	5833182	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:5833182T>A	ENST00000322002.3	+	1	384	c.329T>A	c.(328-330)aTg>aAg	p.M110K	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	110					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTCAAGCACATGGCCGACTAC	0.642																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(328-330)aTg>aAg		SRY (sex determining region Y)-box 11							27.0	34.0	32.0					2																	5833182		2203	4300	6503	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833182T>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.329T>A	2.37:g.5833182T>A	ENSP00000322568:p.Met110Lys						p.M110K	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	384	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		110					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.329T>A	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178455	0.78564	.	.	ENSG00000176887	ENST00000322002	D	0.97752	-4.52	2.82	2.82	0.32997	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.97210	0.9088	L	0.42581	1.335	0.80722	D	1	D	0.58620	0.983	D	0.79108	0.992	D	0.95042	0.8179	10	0.17832	T	0.49	.	11.2381	0.48953	0.0:0.0:0.0:1.0	.	110	P35716	SOX11_HUMAN	K	110	ENSP00000322568:M110K	ENSP00000322568:M110K	M	+	2	0	SOX11	5750633	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.675000	0.61619	1.271000	0.44313	0.391000	0.25812	ATG		0.642	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		3	45	0	0	0	0.115264	0	3	45				
RYR2	6262	broad.mit.edu	37	1	237754210	237754210	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:237754210G>T	ENST00000366574.2	+	31	4395	c.4078G>T	c.(4078-4080)Gac>Tac	p.D1360Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D1344Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D1358Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1360	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGATCGTGTTGACAAAGACAA	0.423																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4078-4080)Gac>Tac		ryanodine receptor 2 (cardiac)							69.0	65.0	66.0					1																	237754210		1899	4118	6017	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237754210G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4078G>T	1.37:g.237754210G>T	ENSP00000355533:p.Asp1360Tyr					RYR2_ENST00000542537.1_Missense_Mutation_p.D1344Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D1358Y	p.D1360Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4395	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1360			4 X approximate repeats.|B30.2/SPRY 3.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4078G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	18.15	3.560001	0.65538	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96685	-4.09;-4.06;-4.08	5.25	5.25	0.73442	B30.2/SPRY domain (1);	0.252645	0.30999	N	0.008451	D	0.92941	0.7754	N	0.19112	0.55	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	D	0.88326	0.2965	10	0.72032	D	0.01	.	19.4101	0.94667	0.0:0.0:1.0:0.0	.	1360	Q92736	RYR2_HUMAN	Y	1360;1358;1344	ENSP00000355533:D1360Y;ENSP00000353174:D1358Y;ENSP00000443798:D1344Y	ENSP00000353174:D1358Y	D	+	1	0	RYR2	235820833	1.000000	0.71417	0.948000	0.38648	0.993000	0.82548	9.166000	0.94766	2.895000	0.99335	0.650000	0.86243	GAC		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	41	1	0	2.35188e-11	0.539581	2.72818e-11	18	41				
ZNF292	23036	broad.mit.edu	37	6	87966666	87966666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:87966666C>T	ENST00000369577.3	+	8	3362	c.3319C>T	c.(3319-3321)Cga>Tga	p.R1107*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R1102*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1107						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 positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGATGTACTCGAACCTATAA	0.443																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(3319-3321)Cga>Tga		zinc finger protein 292							57.0	53.0	54.0					6																	87966666		1870	4103	5973	SO:0001587	stop_gained	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966666C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3319C>T	6.37:g.87966666C>T	ENSP00000358590:p.Arg1107*					ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R1102*	p.R1107*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	3362	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1107					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	ENST00000369577.3	37	c.3319C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	40	8.178519	0.98691	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	.	.	.	5.55	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4314	0.61057	0.2857:0.7143:0.0:0.0	.	.	.	.	X	1107;1102	.	ENSP00000342847:R1102X	R	+	1	2	ZNF292	88023385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.097000	0.50251	1.321000	0.45227	0.591000	0.81541	CGA		0.443	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		5	47	0	0	0	0.184627	0	5	47				
MMACHC	25974	broad.mit.edu	37	1	45974618	45974618	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:45974618G>A	ENST00000401061.4	+	4	860	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	194					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGCCCTACTCGAAGGCTTCAA	0.562																																						ENST00000401061.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(580-582)Gaa>Aaa		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						113.0	121.0	118.0					1																	45974618		2058	4192	6250	SO:0001583	missense	25974						cobalamin binding	g.chr1:45974618G>A		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.580G>A	1.37:g.45974618G>A	ENSP00000383840:p.Glu194Lys						p.E194K	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			4	860	+	Acute lymphoblastic leukemia(166;0.155)		194					Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	c.580G>A	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293323	0.95546	.	.	ENSG00000132763	ENST00000401061	D	0.98135	-4.74	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.98406	0.9470	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	P	0.56960	0.81	D	0.98942	1.0791	10	0.62326	D	0.03	-14.1818	19.4484	0.94857	0.0:0.0:1.0:0.0	.	194	Q9Y4U1	MMAC_HUMAN	K	194	ENSP00000383840:E194K	ENSP00000383840:E194K	E	+	1	0	MMACHC	45747205	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	9.400000	0.97290	2.711000	0.92665	0.563000	0.77884	GAA		0.562	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		11	138	0	0	0	0.411799	0	11	138				
PTGS1	5742	broad.mit.edu	37	9	125154663	125154663	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:125154663G>A	ENST00000362012.2	+	11	1645	c.1640G>A	c.(1639-1641)aGc>aAc	p.S547N	PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N|PTGS1_ENST00000223423.4_Missense_Mutation_p.S510N|PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	547					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGGAAGCCGAGCACATTTGGC	0.527																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1639-1641)aGc>aAc		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						115.0	113.0	114.0					9																	125154663		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	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.chr9:125154663G>A	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1640G>A	9.37:g.125154663G>A	ENSP00000354612:p.Ser547Asn					PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N|PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N|PTGS1_ENST00000223423.4_Missense_Mutation_p.S510N	p.S547N	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			11	1645	+			547					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1640G>A	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153043	0.94645	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.55055	-0.8200	10	0.87932	D	0	-31.7031	18.2032	0.89846	0.0:0.0:1.0:0.0	.	485;547;510	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	N	485;547;510;438	ENSP00000437709:S485N;ENSP00000354612:S547N;ENSP00000223423:S510N;ENSP00000362802:S438N	ENSP00000223423:S510N	S	+	2	0	PTGS1	124194484	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	9.864000	0.99589	2.539000	0.85634	0.655000	0.94253	AGC		0.527	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			9	138	0	0	0	0.387290	0	9	138				
CDK12	51755	broad.mit.edu	37	17	37687433	37687433	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:37687433G>A	ENST00000447079.4	+	14	4370	c.4337G>A	c.(4336-4338)gGa>gAa	p.G1446E	CDK12_ENST00000430627.2_Missense_Mutation_p.G1437E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1446					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTGGGGCCAGGAACCACTGGG	0.577			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(4336-4338)gGa>gAa		cyclin-dependent kinase 12							52.0	58.0	56.0					17																	37687433		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687433G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4337G>A	17.37:g.37687433G>A	ENSP00000398880:p.Gly1446Glu	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.G1437E	p.G1446E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	4370	+			1446					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.4337G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	4.546	0.101397	0.08731	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.64260	-0.09;0.06	5.54	4.58	0.56647	.	0.000000	0.48286	D	0.000190	T	0.30572	0.0769	N	0.02539	-0.55	0.38526	D	0.948843	B;B	0.16802	0.011;0.019	B;B	0.17433	0.008;0.018	T	0.32955	-0.9887	10	0.02654	T	1	-5.558	10.5931	0.45321	0.0724:0.1333:0.7943:0.0	.	1446;1437	Q9NYV4;Q9NYV4-2	CDK12_HUMAN;.	E	1437;1446	ENSP00000407720:G1437E;ENSP00000398880:G1446E	ENSP00000407720:G1437E	G	+	2	0	CDK12	34940959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.263000	0.65507	1.583000	0.49898	-0.142000	0.14014	GGA		0.577	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		35	70	0	0	0	0.827153	0	35	70				
DAZAP1	26528	broad.mit.edu	37	19	1434835	1434835	+	Missense_Mutation	SNP	G	G	C	rs34263898		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:1434835G>C	ENST00000233078.4	+	12	1309	c.1148G>C	c.(1147-1149)gGc>gCc	p.G383A	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	383	Pro-rich.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTcggggggcccccccgcc	0.706																																						ENST00000233078.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(1147-1149)gGc>gCc		DAZ associated protein 1							12.0	15.0	14.0					19																	1434835		2194	4294	6488	SO:0001583	missense	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1434835G>C		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.1148G>C	19.37:g.1434835G>C	ENSP00000233078:p.Gly383Ala					DAZAP1_ENST00000336761.6_3'UTR	p.G383A	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_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)	12	1309	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	383			Pro-rich.		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	37	c.1148G>C	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245920	0.39697	.	.	ENSG00000071626	ENST00000233078	T	0.35605	1.3	5.26	5.26	0.73747	.	0.101931	0.64402	D	0.000003	T	0.25827	0.0629	N	0.14661	0.345	0.80722	D	1	B;B;B	0.13594	0.005;0.005;0.008	B;B;B	0.12156	0.003;0.003;0.007	T	0.03503	-1.1030	10	0.34782	T	0.22	.	17.8389	0.88709	0.0:0.0:1.0:0.0	.	450;383;149	Q5IRN4;Q96EP5;B3KS63	.;DAZP1_HUMAN;.	A	383	ENSP00000233078:G383A	ENSP00000233078:G383A	G	+	2	0	DAZAP1	1385835	1.000000	0.71417	0.979000	0.43373	0.837000	0.47467	7.050000	0.76620	2.454000	0.82982	0.561000	0.74099	GGC		0.706	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		6	14	0	0	0	0.278610	0	6	14				
WNT5A	7474	broad.mit.edu	37	3	55508372	55508372	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:55508372C>T	ENST00000474267.1	-	5	1198	c.677G>A	c.(676-678)gGc>gAc	p.G226D	WNT5A_ENST00000497027.1_Missense_Mutation_p.G211D|WNT5A_ENST00000264634.4_Missense_Mutation_p.G226D			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	226					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CACCCTGCGGCCGGCCTCGTT	0.672																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(676-678)gGc>gAc		wingless-type MMTV integration site family, member 5A							19.0	25.0	23.0					3																	55508372		2188	4294	6482	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55508372C>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.677G>A	3.37:g.55508372C>T	ENSP00000417310:p.Gly226Asp					WNT5A_ENST00000497027.1_Missense_Mutation_p.G211D|WNT5A_ENST00000264634.4_Missense_Mutation_p.G226D	p.G226D			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	5	1198	-			226					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.677G>A	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386784	0.95967	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027;ENST00000482079	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98109	1.0419	10	0.87932	D	0	.	17.8575	0.88769	0.0:1.0:0.0:0.0	.	226	P41221	WNT5A_HUMAN	D	226;226;137;211;211	ENSP00000417310:G226D;ENSP00000264634:G226D;ENSP00000420104:G211D;ENSP00000418184:G211D	ENSP00000264634:G226D	G	-	2	0	WNT5A	55483412	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	7.636000	0.83301	2.275000	0.75901	0.557000	0.71058	GGC		0.672	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		7	46	0	0	0	0.335167	0	7	46				
EFCAB7	84455	broad.mit.edu	37	1	64022884	64022884	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:64022884G>A	ENST00000371088.4	+	10	1560	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	438	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAAGTGGTGAGAAATGTGATG	0.318																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(1312-1314)gaG>gaA		EF-hand calcium binding domain 7							73.0	83.0	80.0					1																	64022884		2203	4300	6503	SO:0001819	synonymous_variant	84455						calcium ion binding	g.chr1:64022884G>A	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1314G>A	1.37:g.64022884G>A						EFCAB7_ENST00000461039.1_3'UTR	p.E438E	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			10	1560	+			438			EF-hand 3.		Q658P0|Q96B95|Q96JM6	Silent	SNP	ENST00000371088.4	37	c.1314G>A	CCDS30737.1																																																																																				0.318	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		3	37	0	0	0	0.150653	0	3	37				
PRB2	653247	broad.mit.edu	37	12	11546771	11546771	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:11546771G>C	ENST00000389362.4	-	3	276	c.241C>G	c.(241-243)Cca>Gca	p.P81A	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	81	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P81A(1)|p.P60A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGGTCCTTGTGGC	0.612																																						ENST00000389362.4																			2	Substitution - Missense(2)	p.P81A(1)|p.P60A(1)	urinary_tract(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(241-243)Cca>Gca		proline-rich protein BstNI subfamily 2							119.0	137.0	131.0					12																	11546771		2162	4222	6384	SO:0001583	missense	653247							g.chr12:11546771G>C	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.241C>G	12.37:g.11546771G>C	ENSP00000374013:p.Pro81Ala					PRB1_ENST00000546254.1_Intron	p.P81A	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	276	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.241C>G	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	7.105	0.574795	0.13623	.	.	ENSG00000121335	ENST00000389362	T	0.04275	3.66	1.69	-1.72	0.08107	.	924.301000	0.02017	U	0.047463	T	0.11281	0.0275	M	0.80982	2.52	0.27230	N	0.959422	D	0.64830	0.994	P	0.52217	0.693	T	0.49597	-0.8923	10	0.08179	T	0.78	.	4.3941	0.11355	0.0:0.2425:0.5138:0.2437	.	81	P02812	PRB2_HUMAN	A	81	ENSP00000374013:P81A	ENSP00000374013:P81A	P	-	1	0	PRB2	11438038	0.741000	0.28217	0.112000	0.21494	0.160000	0.22226	-0.004000	0.12878	-0.045000	0.13468	0.418000	0.28097	CCA		0.612	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		6	409	0	0	0	0.278610	0	6	409				
UBR1	197131	broad.mit.edu	37	15	43242542	43242542	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:43242542C>G	ENST00000290650.4	-	46	5104	c.5026G>C	c.(5026-5028)Gtc>Ctc	p.V1676L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1676					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCAACCAGGACCACTCGGCAT	0.403																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(5026-5028)Gtc>Ctc		ubiquitin protein ligase E3 component n-recognin 1							68.0	69.0	69.0					15																	43242542		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43242542C>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.5026G>C	15.37:g.43242542C>G	ENSP00000290650:p.Val1676Leu					UBR1_ENST00000382177.2_3'UTR	p.V1676L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	46	5104	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1676					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.5026G>C	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352137	0.41700	.	.	ENSG00000159459	ENST00000290650	T	0.34667	1.35	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	N	0.02202	-0.64	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.15549	-1.0433	10	0.02654	T	1	-0.8198	19.3691	0.94477	0.0:1.0:0.0:0.0	.	1676	Q8IWV7	UBR1_HUMAN	L	1676	ENSP00000290650:V1676L	ENSP00000290650:V1676L	V	-	1	0	UBR1	41029834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.998000	0.76277	2.822000	0.97130	0.650000	0.86243	GTC		0.403	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		4	94	0	0	0	0.217242	0	4	94				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	75	0	0	0	0.217242	0	4	75				
SCAF8	22828	broad.mit.edu	37	6	155054985	155054985	+	5'UTR	SNP	G	G	A	rs372825045		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:155054985G>A	ENST00000367178.3	+	0	527				SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.S29N|SCAF8_ENST00000417268.1_5'UTR	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ACCCAGTGCAGTGGCCGCCGC	0.726																																						ENST00000367186.4																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(85-87)aGt>aAt		SR-related CTD-associated factor 8							14.0	16.0	15.0					6																	155054985		2186	4273	6459	SO:0001623	5_prime_UTR_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155054985G>A	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.-50G>A	6.37:g.155054985G>A						SCAF8_ENST00000367178.3_5'UTR|SCAF8_ENST00000417268.1_5'UTR|SCAF8_ENST00000461219.1_3'UTR	p.S29N			Q9UPN6	SCAF8_HUMAN			2	93	+			0			CID.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.86G>A	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016747	0.35606	.	.	ENSG00000213079	ENST00000367186	T	0.44881	0.91	3.17	1.21	0.21127	.	.	.	.	.	T	0.07324	0.0185	.	.	.	0.20638	N	0.999871	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39014	-0.9634	8	0.18710	T	0.47	.	3.9288	0.09275	0.1481:0.2513:0.6006:0.0	.	29;29	B7Z876;B7Z888	.;.	N	29	ENSP00000356154:S29N	ENSP00000356154:S29N	S	+	2	0	SCAF8	155096677	0.055000	0.20627	0.109000	0.21407	0.998000	0.95712	1.128000	0.31369	0.044000	0.15775	0.561000	0.74099	AGT		0.726	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		3	17	0	0	0	0.150653	0	3	17				
DUS3L	56931	broad.mit.edu	37	19	5788166	5788166	+	Missense_Mutation	SNP	G	G	A	rs545783379		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:5788166G>A	ENST00000309061.7	-	5	1060	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.R80W|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	322							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						TTGCAGATCCGTCGGAAGGGC	0.612																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(964-966)Cgg>Tgg		dihydrouridine synthase 3-like (S. cerevisiae)							46.0	47.0	47.0					19																	5788166		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5788166G>A		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.964C>T	19.37:g.5788166G>A	ENSP00000311977:p.Arg322Trp					DUS3L_ENST00000320699.8_Missense_Mutation_p.R80W	p.R322W	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			5	1060	-			322					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.964C>T	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036913	0.54896	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.32753	1.44;1.44	3.78	2.68	0.31781	Aldolase-type TIM barrel (1);	0.000000	0.64402	U	0.000001	T	0.62756	0.2454	H	0.95850	3.73	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.69327	-0.5174	10	0.87932	D	0	-17.1384	7.6301	0.28234	0.0:0.0:0.5388:0.4612	.	80;322	Q96G46-3;Q96G46	.;DUS3L_HUMAN	W	322;80	ENSP00000311977:R322W;ENSP00000315558:R80W	ENSP00000311977:R322W	R	-	1	2	DUS3L	5739166	0.998000	0.40836	0.976000	0.42696	0.523000	0.34469	2.644000	0.46613	1.672000	0.50884	0.306000	0.20318	CGG		0.612	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		7	51	0	0	0	0.307466	0	7	51				
METTL14	57721	broad.mit.edu	37	4	119631282	119631282	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr4:119631282C>T	ENST00000388822.5	+	11	1363	c.1196C>T	c.(1195-1197)tCg>tTg	p.S399L	METTL14_ENST00000506780.1_Missense_Mutation_p.S361L			Q9HCE5	MET14_HUMAN	methyltransferase like 14	399					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						CGACCAAAATCGCCTCCTCCC	0.458																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(1195-1197)tCg>tTg		methyltransferase like 14							70.0	72.0	71.0					4																	119631282		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119631282C>T	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.1196C>T	4.37:g.119631282C>T	ENSP00000373474:p.Ser399Leu					METTL14_ENST00000506780.1_Missense_Mutation_p.S361L	p.S399L			Q9HCE5	MTL14_HUMAN			11	1363	+			399					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.1196C>T	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529283	0.85706	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	5.62	5.62	0.85841	.	0.059847	0.64402	D	0.000001	T	0.73297	0.3569	M	0.91612	3.225	0.80722	D	1	P;B	0.35844	0.524;0.382	B;B	0.25140	0.058;0.058	T	0.79502	-0.1777	9	0.87932	D	0	-8.3468	19.69	0.95996	0.0:1.0:0.0:0.0	.	361;399	D6RBL4;Q9HCE5	.;MTL14_HUMAN	L	399;361	.	ENSP00000373474:S399L	S	+	2	0	METTL14	119850730	1.000000	0.71417	0.923000	0.36655	0.988000	0.76386	7.476000	0.81055	2.648000	0.89879	0.650000	0.86243	TCG		0.458	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		28	48	0	0	0	0.740014	0	28	48				
GSTT1	2952	broad.mit.edu	37	22	24381723	24381723	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr22:24381723G>A	ENST00000248935.5	-	2	229	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GSTT1_ENST00000439996.2_Intron	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		59	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	TGAAGTCCCCGTCCTTCAAGG	0.562									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																													ENST00000248935.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6						c.(175-177)gaC>gaT		glutathione S-transferase theta 1	Glutathione(DB00143)						98.0	84.0	89.0					22																	24381723		1708	3615	5323	SO:0001819	synonymous_variant	2952	Myelodysplasia and Acute Myeloid Leukemia (AML), Familial	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML	glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity	g.chr22:24381723G>A																												ENST00000248935.5:c.177C>T	22.37:g.24381723G>A						GSTT1_ENST00000439996.2_Intron	p.D59D	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN			2	229	-			59			GST N-terminal.		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Silent	SNP	ENST00000248935.5	37	c.177C>T	CCDS13822.1																																																																																				0.562	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			4	114	0	0	0	0.150653	0	4	114				
TSKS	60385	broad.mit.edu	37	19	50245231	50245231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:50245231G>A	ENST00000246801.3	-	9	1490	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	TSKS_ENST00000358830.3_Nonsense_Mutation_p.R270*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	470					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)		GTCAGTGCTCGGTCCAGCAGC	0.612																																						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.(1408-1410)Cga>Tga		testis-specific serine kinase substrate							96.0	84.0	88.0					19																	50245231		2203	4300	6503	SO:0001587	stop_gained	60385						protein binding	g.chr19:50245231G>A	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.1408C>T	19.37:g.50245231G>A	ENSP00000246801:p.Arg470*					TSKS_ENST00000358830.3_Nonsense_Mutation_p.R270*	p.R470*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	9	1490	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	470					Q8WXJ0	Nonsense_Mutation	SNP	ENST00000246801.3	37	c.1408C>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073331	0.76415	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	.	.	.	4.42	3.38	0.38709	.	0.000000	0.44902	D	0.000416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0288	8.5184	0.33259	0.1068:0.0:0.8932:0.0	.	.	.	.	X	470;270	.	ENSP00000246801:R470X	R	-	1	2	TSKS	54937043	0.959000	0.32827	0.971000	0.41717	0.155000	0.21991	2.774000	0.47694	1.226000	0.43582	-0.265000	0.10407	CGA		0.612	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		3	65	0	0	0	0.150653	0	3	65				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	129	0	0	0	0.217242	0	4	129				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	74	0	0	0	0.150653	0	4	74				
MEFV	4210	broad.mit.edu	37	16	3306386	3306386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:3306386G>A	ENST00000219596.1	-	1	241	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	MEFV_ENST00000541159.1_Nonsense_Mutation_p.Q68*|MEFV_ENST00000536379.1_Nonsense_Mutation_p.Q68*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.Q68*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	68	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						AGGGTGAGCTGCACGGCGTAC	0.657																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(202-204)Cag>Tag		Mediterranean fever	Colchicine(DB01394)						60.0	60.0	60.0					16																	3306386		2197	4300	6497	SO:0001587	stop_gained	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3306386G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.202C>T	16.37:g.3306386G>A	ENSP00000219596:p.Gln68*					MEFV_ENST00000339854.4_Nonsense_Mutation_p.Q68*|MEFV_ENST00000536379.1_Nonsense_Mutation_p.Q68*|MEFV_ENST00000541159.1_Nonsense_Mutation_p.Q68*	p.Q68*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			1	241	-			68			DAPIN.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Nonsense_Mutation	SNP	ENST00000219596.1	37	c.202C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506862	0.64410	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	.	.	.	5.98	2.65	0.31530	.	1.408930	0.04649	N	0.406848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-2.4707	11.5104	0.50490	0.0:0.0:0.4187:0.5812	.	.	.	.	X	68	.	ENSP00000219596:Q68X	Q	-	1	0	MEFV	3246387	0.000000	0.05858	0.004000	0.12327	0.187000	0.23431	0.351000	0.20096	0.806000	0.34183	0.591000	0.81541	CAG		0.657	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		4	123	0	0	0	0.217242	0	4	123				
OR10K1	391109	broad.mit.edu	37	1	158436009	158436009	+	Missense_Mutation	SNP	C	C	T	rs185874732		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:158436009C>T	ENST00000289451.2	+	1	738	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, 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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CTCCTACATCCGCATCATCTC	0.478													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22474	0.0		0.0	False		,,,				2504	0.0					ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(658-660)Cgc>Tgc		olfactory receptor, family 10, subfamily K, member 1		C	CYS/ARG	0,4406		0,0,2203	127.0	118.0	121.0		658	4.2	0.0	1		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10K1	NM_001004473.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	220/314	158436009	1,13005	2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436009C>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.658C>T	1.37:g.158436009C>T	ENSP00000289451:p.Arg220Cys						p.R220C	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	738	+	all_hematologic(112;0.0378)		220					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.658C>T	CCDS30897.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	1.332	-0.596619	0.03771	0.0	1.16E-4	ENSG00000173285	ENST00000289451	T	0.00099	8.73	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.990047	0.08200	N	0.982456	T	0.00039	0.0001	N	0.04636	-0.2	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.13953	-1.0490	10	0.35671	T	0.21	.	9.3686	0.38239	0.0:0.8989:0.0:0.1011	.	220	Q8NGX5	O10K1_HUMAN	C	220	ENSP00000289451:R220C	ENSP00000289451:R220C	R	+	1	0	OR10K1	156702633	0.000000	0.05858	0.021000	0.16686	0.131000	0.20780	-1.500000	0.02283	2.160000	0.67779	0.557000	0.71058	CGC		0.478	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			21	82	0	0	0	0.639603	0	21	82				
DNAJB11	51726	broad.mit.edu	37	3	186299282	186299282	+	Silent	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:186299282C>T	ENST00000439351.1	+	6	1508	c.579C>T	c.(577-579)tgC>tgT	p.C193C	DNAJB11_ENST00000265028.3_Silent_p.C193C			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	193					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGTGGTCTGCGACGAATGCC	0.502																																						ENST00000439351.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(577-579)tgC>tgT		DnaJ (Hsp40) homolog, subfamily B, member 11							82.0	84.0	84.0					3																	186299282		2203	4300	6503	SO:0001819	synonymous_variant	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186299282C>T	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.579C>T	3.37:g.186299282C>T						DNAJB11_ENST00000265028.3_Silent_p.C193C	p.C193C			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	6	1508	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		193					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Silent	SNP	ENST00000439351.1	37	c.579C>T	CCDS3277.1																																																																																				0.502	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			8	89	0	0	0	0.335167	0	8	89				
FKBP9P1	360132	broad.mit.edu	37	7	55752886	55752886	+	RNA	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:55752886G>A	ENST00000455909.1	-	0	677				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)	p.N77N(1)		endometrium(1)|kidney(1)|lung(3)	5						GGACTTCTCCGTTGCCATCCT	0.557																																						ENST00000455909.1																			1	Substitution - coding silent(1)	p.N77N(1)	endometrium(1)	endometrium(1)|kidney(1)|lung(3)	5								FK506 binding protein 9-like							94.0	85.0	88.0					7																	55752886		692	1591	2283			360132							g.chr7:55752886G>A																													7.37:g.55752886G>A								NR_027340.1|NR_027342.1						0	677	-								B2R7H1	RNA	SNP	ENST00000455909.1	37																																																																																						0.557	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			3	54	0	0	0	0.115264	0	3	54				
MED26	9441	broad.mit.edu	37	19	16688032	16688032	+	Silent	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:16688032G>T	ENST00000263390.3	-	3	871	c.609C>A	c.(607-609)ggC>ggA	p.G203G	CTD-3222D19.2_ENST00000409035.1_Silent_p.G211G|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	203					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGCCCTCTGGGCCTGCATGCC	0.672																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(607-609)ggC>ggA		mediator complex subunit 26							52.0	61.0	58.0					19																	16688032		2200	4300	6500	SO:0001819	synonymous_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16688032G>T	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.609C>A	19.37:g.16688032G>T						CTD-3222D19.2_ENST00000409035.1_Silent_p.G211G	p.G203G	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	871	-			203					A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	c.609C>A	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	0.053	-1.245261	0.01481	.	.	ENSG00000105085	ENST00000453758	.	.	.	4.44	0.839	0.18907	.	.	.	.	.	T	0.25975	0.0633	.	.	.	0.24539	N	0.99408	.	.	.	.	.	.	T	0.26815	-1.0092	5	0.42905	T	0.14	-18.3929	1.392	0.02253	0.2264:0.2648:0.3748:0.1339	.	.	.	.	T	86	.	ENSP00000416503:P86T	P	-	1	0	MED26	16549032	1.000000	0.71417	0.015000	0.15790	0.003000	0.03518	1.545000	0.36169	0.342000	0.23796	0.555000	0.69702	CCC		0.672	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		10	143	1	0	6.40141e-05	0.387290	7.14004e-05	10	143				
FLNC	2318	broad.mit.edu	37	7	128475497	128475497	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:128475497G>A	ENST00000325888.8	+	2	731	c.470G>A	c.(469-471)cGc>cAc	p.R157H	FLNC_ENST00000346177.6_Missense_Mutation_p.R157H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	157	Actin-binding.				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						GAGGATGCCCGCAAACAGACG	0.582																																						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.(469-471)cGc>cAc		filamin C, gamma							81.0	91.0	88.0					7																	128475497		2203	4300	6503	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128475497G>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.470G>A	7.37:g.128475497G>A	ENSP00000327145:p.Arg157His					FLNC_ENST00000346177.6_Missense_Mutation_p.R157H	p.R157H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			2	731	+			157			Actin-binding.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.470G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581777	0.86748	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85339	-1.97;-1.97	5.84	5.84	0.93424	Calponin homology domain (2);	0.117221	0.53938	D	0.000058	T	0.79375	0.4435	N	0.16478	0.41	0.44006	D	0.996713	D;B	0.58970	0.984;0.024	P;B	0.50659	0.647;0.007	T	0.80872	-0.1188	10	0.87932	D	0	.	8.5759	0.33598	0.1622:0.0:0.8378:0.0	.	157;157	Q14315-2;Q14315	.;FLNC_HUMAN	H	157	ENSP00000327145:R157H;ENSP00000344002:R157H	ENSP00000327145:R157H	R	+	2	0	FLNC	128262733	0.996000	0.38824	1.000000	0.80357	0.884000	0.51177	2.445000	0.44899	2.768000	0.95171	0.561000	0.74099	CGC		0.582	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			4	162	0	0	0	0.150653	0	4	162				
KPRP	448834	broad.mit.edu	37	1	152733398	152733398	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:152733398G>A	ENST00000606109.1	+	1	1362	c.1334G>A	c.(1333-1335)cGg>cAg	p.R445Q	KPRP_ENST00000368773.1_Missense_Mutation_p.R445Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	445	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAACACCGCGGCCAGTTCCC	0.582																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1333-1335)cGg>cAg		keratinocyte proline-rich protein							169.0	170.0	170.0					1																	152733398		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733398G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1334G>A	1.37:g.152733398G>A	ENSP00000475216:p.Arg445Gln					KPRP_ENST00000606109.1_Missense_Mutation_p.R445Q	p.R445Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1392	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		445			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1334G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600698	0.13939	.	.	ENSG00000203786	ENST00000368773	T	0.15256	2.44	1.66	1.66	0.24008	.	0.339830	0.21778	N	0.069258	T	0.02888	0.0086	L	0.38175	1.15	0.09310	N	1	P	0.39250	0.665	B	0.23419	0.046	T	0.41734	-0.9492	10	0.16896	T	0.51	-4.7283	9.3095	0.37895	0.0:0.0:1.0:0.0	.	445	Q5T749	KPRP_HUMAN	Q	445	ENSP00000357762:R445Q	ENSP00000357762:R445Q	R	+	2	0	KPRP	151000022	0.118000	0.22208	0.026000	0.17262	0.034000	0.12701	1.691000	0.37721	1.244000	0.43870	0.462000	0.41574	CGG		0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		78	157	0	0	0	0.870114	0	78	157				
TUSC5	286753	broad.mit.edu	37	17	1183623	1183623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:1183623G>A	ENST00000333813.3	+	1	667	c.328G>A	c.(328-330)Gtc>Atc	p.V110I		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	110					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGGCCGTCGTCGCCTGCTT	0.632																																						ENST00000333813.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(328-330)Gtc>Atc		tumor suppressor candidate 5							84.0	94.0	90.0					17																	1183623		1962	4126	6088	SO:0001583	missense	286753				response to biotic stimulus	integral to membrane		g.chr17:1183623G>A	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.328G>A	17.37:g.1183623G>A	ENSP00000329548:p.Val110Ile						p.V110I	NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	667	+			110					A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	c.328G>A	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539720	0.27563	.	.	ENSG00000184811	ENST00000333813	D	0.86164	-2.08	5.28	-0.51	0.11973	.	0.594141	0.16497	U	0.211856	T	0.61261	0.2333	N	0.02802	-0.49	0.19575	N	0.999967	B	0.28801	0.223	B	0.20184	0.028	T	0.55055	-0.8200	10	0.38643	T	0.18	-9.2616	0.5522	0.00664	0.2633:0.1259:0.337:0.2738	.	110	Q8IXB3	TUSC5_HUMAN	I	110	ENSP00000329548:V110I	ENSP00000329548:V110I	V	+	1	0	TUSC5	1130373	0.953000	0.32496	0.997000	0.53966	0.551000	0.35334	0.457000	0.21875	0.247000	0.21414	0.537000	0.68136	GTC		0.632	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		10	127	0	0	0	0.335167	0	10	127				
DNAH1	25981	broad.mit.edu	37	3	52402841	52402841	+	Silent	SNP	G	G	A	rs374690567		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:52402841G>A	ENST00000420323.2	+	37	6111	c.5850G>A	c.(5848-5850)ccG>ccA	p.P1950P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1950	AAA 2. {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)		TCGATGGGCCGGTGGATGCCA	0.572																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5848-5850)ccG>ccA		dynein, axonemal, heavy chain 1		G		0,4196		0,0,2098	137.0	142.0	140.0		5850	-9.9	0.2	3		140	6,8466		0,6,4230	no	coding-synonymous	DNAH1	NM_015512.4		0,6,6328	AA,AG,GG		0.0708,0.0,0.0474		1950/4266	52402841	6,12662	2098	4236	6334	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.chr3:52402841G>A	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.5850G>A	3.37:g.52402841G>A							p.P1950P	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)	37	6111	+			1950			AAA 2 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.5850G>A	CCDS46842.1																																																																																				0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	241	0	0	0	0.150653	0	4	241				
ACTL7B	10880	broad.mit.edu	37	9	111617256	111617256	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:111617256T>C	ENST00000374667.3	-	1	1983	c.955A>G	c.(955-957)Aca>Gca	p.T319A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	319						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGGCAGCTGTGAGCTCCGGG	0.652																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(955-957)Aca>Gca		actin-like 7B							31.0	39.0	36.0					9																	111617256		2193	4293	6486	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617256T>C	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.955A>G	9.37:g.111617256T>C	ENSP00000363799:p.Thr319Ala						p.T319A	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1983	-			319					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.955A>G	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678906	0.47886	.	.	ENSG00000148156	ENST00000374667	T	0.07216	3.21	5.24	4.09	0.47781	.	0.182612	0.26510	N	0.023975	T	0.06962	0.0177	N	0.25380	0.74	0.27972	N	0.93635	B	0.14805	0.011	B	0.18561	0.022	T	0.19095	-1.0316	10	0.87932	D	0	.	9.2838	0.37744	0.0:0.086:0.0:0.914	.	319	Q9Y614	ACL7B_HUMAN	A	319	ENSP00000363799:T319A	ENSP00000363799:T319A	T	-	1	0	ACTL7B	110657077	0.105000	0.21958	0.980000	0.43619	0.799000	0.45148	0.598000	0.24074	0.832000	0.34804	0.459000	0.35465	ACA		0.652	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		15	62	0	0	0	0.479597	0	15	62				
FBXO16	157574	broad.mit.edu	37	8	28304698	28304698	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr8:28304698G>A	ENST00000380254.2	-	7	981	c.833C>T	c.(832-834)gCa>gTa	p.A278V	FBXO16_ENST00000518734.1_Missense_Mutation_p.A266V|RP11-181B11.2_ENST00000518819.1_RNA|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000346498.2_Missense_Mutation_p.A266V	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	278										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CATTGATTGTGCTTTTCTTAG	0.318																																						ENST00000380254.2																			0				large_intestine(2)|ovary(1)	3						c.(832-834)gCa>gTa		F-box protein 16							219.0	206.0	211.0					8																	28304698		2203	4300	6503	SO:0001583	missense	157574							g.chr8:28304698G>A	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.833C>T	8.37:g.28304698G>A	ENSP00000369604:p.Ala278Val					FBXO16_ENST00000518734.1_Missense_Mutation_p.A266V|FBXO16_ENST00000346498.2_Missense_Mutation_p.A266V	p.A278V	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	7	981	-		Ovarian(32;2.06e-05)	278					Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	c.833C>T	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459898	0.63401	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734	T;T;T	0.23950	2.02;1.88;2.02	4.87	4.87	0.63330	.	0.869827	0.09645	U	0.774438	T	0.39809	0.1092	M	0.74881	2.28	0.80722	D	1	P;P;D	0.55172	0.836;0.836;0.97	P;P;P	0.47134	0.453;0.453;0.539	T	0.34403	-0.9830	10	0.54805	T	0.06	-0.5027	13.8522	0.63504	0.0:0.0:1.0:0.0	.	266;266;278	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	V	278;266;266	ENSP00000369604:A278V;ENSP00000341416:A266V;ENSP00000429687:A266V	ENSP00000341416:A266V	A	-	2	0	FBXO16	28360617	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.415000	0.52700	2.408000	0.81797	0.591000	0.81541	GCA		0.318	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		10	127	0	0	0	0.411799	0	10	127				
LPAR1	1902	broad.mit.edu	37	9	113704388	113704388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:113704388G>A	ENST00000374431.3	-	4	489	c.106C>T	c.(106-108)Cga>Tga	p.R36*	LPAR1_ENST00000374430.2_Nonsense_Mutation_p.R36*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.R36*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.R37*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	36					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|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)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TTTCCACTTCGGTTATAAAAG	0.418																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(106-108)Cga>Tga		lysophosphatidic acid receptor 1							99.0	86.0	91.0					9																	113704388		2203	4300	6503	SO:0001587	stop_gained	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704388G>A	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.106C>T	9.37:g.113704388G>A	ENSP00000363553:p.Arg36*					LPAR1_ENST00000538760.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.R36*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.R36*	p.R36*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	489	-			36					B4DK36|O00656|O00722|P78351	Nonsense_Mutation	SNP	ENST00000374431.3	37	c.106C>T	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	G	37	6.343127	0.97489	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	.	.	.	5.36	3.51	0.40186	.	0.054695	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	9.4556	0.38753	0.0745:0.0:0.7824:0.143	.	.	.	.	X	36;37;36;36;18;37;36	.	ENSP00000351755:R36X	R	-	1	2	LPAR1	112744209	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.242000	0.51384	0.639000	0.30564	0.655000	0.94253	CGA		0.418	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		4	108	0	0	0	0.217242	0	4	108				
PACSIN1	29993	broad.mit.edu	37	6	34498308	34498308	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:34498308G>A	ENST00000538621.1	+	8	1226	c.981G>A	c.(979-981)gcG>gcA	p.A327A	PACSIN1_ENST00000374043.2_Silent_p.A285A|PACSIN1_ENST00000244458.2_Silent_p.A327A	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	327					actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGGAGTGGCGCTGACCAATG	0.637																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(979-981)gcG>gcA		protein kinase C and casein kinase substrate in neurons 1							100.0	80.0	87.0					6																	34498308		2203	4300	6503	SO:0001819	synonymous_variant	0				endocytosis		protein kinase activity	g.chr6:34498308G>A	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.981G>A	6.37:g.34498308G>A						PACSIN1_ENST00000244458.2_Silent_p.A327A|PACSIN1_ENST00000374043.2_Silent_p.A285A	p.A327A	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			8	1226	+			327					Q9P2G8	Silent	SNP	ENST00000538621.1	37	c.981G>A	CCDS4793.1																																																																																				0.637	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			3	25	0	0	0	0.115264	0	3	25				
ENOPH1	58478	broad.mit.edu	37	4	83376002	83376002	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr4:83376002C>A	ENST00000273920.3	+	4	785	c.517C>A	c.(517-519)Ctt>Att	p.L173I	ENOPH1_ENST00000509635.1_Missense_Mutation_p.L85I	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GGGAGATATTCTTGAGGTAGG	0.398																																						ENST00000273920.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						c.(517-519)Ctt>Att		enolase-phosphatase 1							225.0	204.0	211.0					4																	83376002		2203	4300	6503	SO:0001583	missense	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83376002C>A		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.517C>A	4.37:g.83376002C>A	ENSP00000273920:p.Leu173Ile					ENOPH1_ENST00000509635.1_Missense_Mutation_p.L85I	p.L173I	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN			4	785	+			173						Missense_Mutation	SNP	ENST00000273920.3	37	c.517C>A	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	c	14.17	2.455797	0.43634	.	.	ENSG00000145293	ENST00000273920;ENST00000456931;ENST00000509635	T;T	0.05139	3.49;3.49	5.74	5.74	0.90152	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	M	0.73430	2.235	0.52501	D	0.999956	P	0.51933	0.949	D	0.63381	0.914	T	0.00031	-1.2280	10	0.37606	T	0.19	-16.0731	13.1315	0.59385	0.0:0.8866:0.0:0.1134	.	173	Q9UHY7	ENOPH_HUMAN	I	173;173;85	ENSP00000273920:L173I;ENSP00000422005:L85I	ENSP00000273920:L173I	L	+	1	0	ENOPH1	83595026	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	2.899000	0.48679	2.881000	0.98747	0.650000	0.86243	CTT		0.398	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		4	176	1	0	0.150653	0.150653	0.15984	4	176				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	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	45	0	0	0	0.150653	0	4	45				
PDXDC2P	283970	broad.mit.edu	37	16	70011854	70011854	+	RNA	SNP	T	T	C	rs373413925	byFrequency	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:70011854T>C	ENST00000531894.1	-	0	2607				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										ACTGTGATGCTTGTAGGCAGC	0.522													N|||	924	0.184505	0.0227	0.3228	5008	,	,		18310	0.0833		0.4036	False		,,,				2504	0.184					ENST00000325845.7																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(670-672)aAg>aGg																																								0							g.chr16:70011854T>C			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70011854T>C						RP11-419C5.2_ENST00000525562.1_5'UTR|RP11-419C5.2_ENST00000532298.1_Intron|PDXDC2P_ENST00000531894.1_RNA	p.K224R							26	2740	-								A8K9Z5	Missense_Mutation	SNP	ENST00000531894.1	37	c.671A>G		.	.	.	.	.	.	.	.	.	.	.	8.154	0.788018	0.16258	.	.	ENSG00000226232	ENST00000325845	T	0.28895	1.59	0.472	-0.944	0.10392	.	.	.	.	.	T	0.24661	0.0598	.	.	.	.	.	.	.	.	.	.	.	.	T	0.30909	-0.9962	4	0.41790	T	0.15	.	.	.	.	.	.	.	.	R	224	ENSP00000449128:K224R	ENSP00000449128:K224R	K	-	2	0	RP11-419C5.2	68569355	0.986000	0.35501	0.005000	0.12908	0.013000	0.08279	-0.127000	0.10547	-0.773000	0.04596	-1.107000	0.02091	AAG		0.522	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			4	39	0	0	0	0.150653	0	4	39				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	75	0	0	0	0.217242	0	4	75				
ATP10B	23120	broad.mit.edu	37	5	159992485	159992485	+	Missense_Mutation	SNP	C	C	T	rs534112987		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr5:159992485C>T	ENST00000327245.5	-	26	5207	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1454					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCTGGGATCGGCGATGGCT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		19769	0.001		0.0	False		,,,				2504	0.0					ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(4360-4362)cGa>cAa		ATPase, class V, type 10B							132.0	126.0	128.0					5																	159992485		2026	4198	6224	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159992485C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4361G>A	5.37:g.159992485C>T	ENSP00000313600:p.Arg1454Gln						p.R1454Q	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	5207	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1454					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.4361G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285426	0.80803	.	.	ENSG00000118322	ENST00000327245	T	0.49432	0.78	5.46	5.46	0.80206	.	0.000000	0.50627	D	0.000102	T	0.65176	0.2666	M	0.62723	1.935	0.31934	N	0.611763	D	0.89917	1.0	D	0.76575	0.988	T	0.70081	-0.4970	9	.	.	.	.	14.7921	0.69851	0.0:1.0:0.0:0.0	.	1454	O94823	AT10B_HUMAN	Q	1454	ENSP00000313600:R1454Q	.	R	-	2	0	ATP10B	159925063	0.995000	0.38212	0.998000	0.56505	0.992000	0.81027	4.086000	0.57664	2.559000	0.86315	0.563000	0.77884	CGA		0.532	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		4	165	0	0	0	0.184627	0	4	165				
ITGA11	22801	broad.mit.edu	37	15	68620499	68620499	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr15:68620499C>A	ENST00000315757.7	-	16	2089	c.2003G>T	c.(2002-2004)tGc>tTc	p.C668F	ITGA11_ENST00000423218.2_Missense_Mutation_p.C668F	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	668					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.C668F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGCGGCCAGGCAGGTGGCATC	0.577																																						ENST00000423218.2																			1	Substitution - Missense(1)	p.C668F(1)	urinary_tract(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(2002-2004)tGc>tTc		integrin, alpha 11	Tirofiban(DB00775)						62.0	70.0	67.0					15																	68620499		1992	4157	6149	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68620499C>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2003G>T	15.37:g.68620499C>A	ENSP00000327290:p.Cys668Phe					ITGA11_ENST00000315757.7_Missense_Mutation_p.C668F	p.C668F			Q9UKX5	ITA11_HUMAN			16	2098	-			668					J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.2003G>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563945	0.86335	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.61392	0.11;0.11	5.69	5.69	0.88448	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.77246	0.4102	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78254	-0.2275	10	0.62326	D	0.03	.	18.803	0.92025	0.0:1.0:0.0:0.0	.	668;668	A8K8T0;Q9UKX5	.;ITA11_HUMAN	F	668;668;303	ENSP00000327290:C668F;ENSP00000403392:C668F	ENSP00000327290:C668F	C	-	2	0	ITGA11	66407553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.211000	0.77933	2.692000	0.91855	0.555000	0.69702	TGC		0.577	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		5	68	1	0	4.096e-09	0.217242	4.6571e-09	5	68				
IGSF10	285313	broad.mit.edu	37	3	151163868	151163868	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:151163868T>C	ENST00000282466.3	-	4	3900	c.3901A>G	c.(3901-3903)Att>Gtt	p.I1301V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1301					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCTTATAATACTAGGAAGC	0.443																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(3901-3903)Att>Gtt		immunoglobulin superfamily, member 10							256.0	238.0	244.0					3																	151163868		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163868T>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3901A>G	3.37:g.151163868T>C	ENSP00000282466:p.Ile1301Val						p.I1301V	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3900	-			1301					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3901A>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	0.314	-0.966112	0.02232	.	.	ENSG00000152580	ENST00000282466	T	0.68624	-0.34	4.41	-3.71	0.04424	.	1.625110	0.04129	N	0.317669	T	0.46560	0.1399	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.17379	-1.0371	10	0.36615	T	0.2	.	1.2034	0.01890	0.1359:0.1719:0.2789:0.4132	.	1301	Q6WRI0	IGS10_HUMAN	V	1301	ENSP00000282466:I1301V	ENSP00000282466:I1301V	I	-	1	0	IGSF10	152646558	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.009000	0.03660	-0.397000	0.07691	-0.504000	0.04507	ATT		0.443	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		86	94	0	0	0	0.870114	0	86	94				
SCAF8	22828	broad.mit.edu	37	6	155054985	155054985	+	5'UTR	SNP	G	G	A	rs372825045		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:155054985G>A	ENST00000367178.3	+	0	527				SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.S29N|SCAF8_ENST00000417268.1_5'UTR	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ACCCAGTGCAGTGGCCGCCGC	0.726																																						ENST00000367186.4																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(85-87)aGt>aAt		SR-related CTD-associated factor 8							14.0	16.0	15.0					6																	155054985		2186	4273	6459	SO:0001623	5_prime_UTR_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155054985G>A	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.-50G>A	6.37:g.155054985G>A						SCAF8_ENST00000367178.3_5'UTR|SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000417268.1_5'UTR	p.S29N			Q9UPN6	SCAF8_HUMAN			2	93	+			0			CID.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.86G>A	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016747	0.35606	.	.	ENSG00000213079	ENST00000367186	T	0.44881	0.91	3.17	1.21	0.21127	.	.	.	.	.	T	0.07324	0.0185	.	.	.	0.20638	N	0.999871	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39014	-0.9634	8	0.18710	T	0.47	.	3.9288	0.09275	0.1481:0.2513:0.6006:0.0	.	29;29	B7Z876;B7Z888	.;.	N	29	ENSP00000356154:S29N	ENSP00000356154:S29N	S	+	2	0	SCAF8	155096677	0.055000	0.20627	0.109000	0.21407	0.998000	0.95712	1.128000	0.31369	0.044000	0.15775	0.561000	0.74099	AGT		0.726	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		3	17	0	0	0	0.150653	0	3	17				
MIA3	375056	broad.mit.edu	37	1	222835673	222835673	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:222835673A>G	ENST00000344922.5	+	26	5286	c.5261A>G	c.(5260-5262)aAg>aGg	p.K1754R	RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Splice_Site_p.K632R|MIA3_ENST00000344441.6_Splice_Site_p.K1754R|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1754	Pro-rich.			K -> R (in Ref. 2; BAH12416). {ECO:0000305}.	chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GATGAAGGCAAGGTAAATGCA	0.428																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.e26+1		melanoma inhibitory activity family, member 3							148.0	143.0	145.0					1																	222835673		1894	4112	6006	SO:0001630	splice_region_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222835673A>G		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5262+1A>G	1.37:g.222835673A>G						MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Splice_Site_p.K1754_splice|MIA3_ENST00000340535.7_Splice_Site_p.K632_splice	p.K1754_splice	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	26	5286	+			1754	K -> R (in Ref. 2; BAH12416).		Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Splice_Site	SNP	ENST00000344922.5	37	c.5262_splice	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.143907	0.37825	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.40225	1.04;1.04;1.42	5.59	3.12	0.35913	.	.	.	.	.	T	0.24736	0.0600	L	0.36672	1.1	0.28416	N	0.917948	B;B	0.27997	0.197;0.071	B;B	0.27887	0.084;0.039	T	0.21586	-1.0241	9	0.09084	T	0.74	.	1.9501	0.03364	0.5511:0.1376:0.0816:0.2297	.	632;1754	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	R	1754;1754;1695;632;632	ENSP00000340900:K1754R;ENSP00000340587:K1754R;ENSP00000345866:K632R	ENSP00000284471:K632R	K	+	2	0	MIA3	220902296	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	2.963000	0.49184	1.046000	0.40249	-0.280000	0.10049	AAG		0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	Missense_Mutation	4	236	0	0	0	0.184627	0	4	236				
TRAFD1	10906	broad.mit.edu	37	12	112572542	112572542	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr12:112572542C>A	ENST00000257604.5	+	3	665	c.48C>A	c.(46-48)tgC>tgA	p.C16*	TRAFD1_ENST00000412615.2_Splice_Site_p.C16*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	16					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ATTTCCGTAGCAAAAAAGAAA	0.393																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.e3-1		TRAF-type zinc finger domain containing 1							152.0	145.0	148.0					12																	112572542		2203	4300	6503	SO:0001630	splice_region_variant	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112572542C>A	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.48-1C>A	12.37:g.112572542C>A						TRAFD1_ENST00000412615.2_Splice_Site_p.C16_splice	p.C16_splice	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			3	665	+			16					A8K5L6|B4DI89	Splice_Site	SNP	ENST00000257604.5	37	c.47_splice	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342226	0.61073	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	.	.	.	5.37	3.55	0.40652	.	0.155625	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4175	0.32681	0.0:0.7566:0.0:0.2434	.	.	.	.	X	16	.	.	C	+	3	2	TRAFD1	111056925	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	1.966000	0.40481	0.653000	0.30826	-0.266000	0.10368	TGC		0.393	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700	Nonsense_Mutation	4	105	1	0	0.00909568	0.150653	0.00980443	4	105				
CXCR2	3579	broad.mit.edu	37	2	218999837	218999837	+	Missense_Mutation	SNP	G	G	C	rs201513058		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr2:218999837G>C	ENST00000318507.2	+	3	740	c.313G>C	c.(313-315)Gcc>Ccc	p.A105P		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	105					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCCCATCTGGGCCGCCTCCAA	0.552																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(313-315)Gcc>Ccc		chemokine (C-X-C motif) receptor 2							101.0	99.0	100.0					2																	218999837		2203	4298	6501	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999837G>C	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.313G>C	2.37:g.218999837G>C	ENSP00000319635:p.Ala105Pro						p.A105P	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	740	+			105					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.313G>C	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204389	0.79127	.	.	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.121291	0.56097	D	0.000040	T	0.72961	0.3526	H	0.95611	3.695	0.41269	D	0.986838	D	0.89917	1.0	D	0.81914	0.995	T	0.80926	-0.1164	10	0.72032	D	0.01	.	12.7008	0.57032	0.0:0.0:0.8349:0.1651	.	105	P25025	CXCR2_HUMAN	P	105	ENSP00000413686:A105P;ENSP00000392348:A105P;ENSP00000319635:A105P;ENSP00000415148:A105P;ENSP00000392698:A105P	ENSP00000319635:A105P	A	+	1	0	CXCR2	218708082	1.000000	0.71417	0.993000	0.49108	0.916000	0.54674	9.663000	0.98605	2.529000	0.85273	0.456000	0.33151	GCC		0.552	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		52	86	0	0	0	0.870114	0	52	86				
PASK	23178	broad.mit.edu	37	2	242080067	242080067	+	Missense_Mutation	SNP	C	C	T	rs199606444		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr2:242080067C>T	ENST00000405260.1	-	3	996	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	PASK_ENST00000544142.1_Intron|PASK_ENST00000403638.3_Missense_Mutation_p.E100K|PASK_ENST00000358649.4_Missense_Mutation_p.E100K|PASK_ENST00000234040.4_Missense_Mutation_p.E100K|PASK_ENST00000539818.1_Intron	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	100					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.E100K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCCCGCGGTTCGGACGGGTCC	0.597													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18474	0.0		0.0	False		,,,				2504	0.0					ENST00000403638.3																			2	Substitution - Missense(2)	p.E100K(2)	endometrium(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(298-300)Gaa>Aaa		PAS domain containing serine/threonine kinase							73.0	71.0	72.0					2																	242080067		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242080067C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.298G>A	2.37:g.242080067C>T	ENSP00000384016:p.Glu100Lys					PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.E100K|PASK_ENST00000405260.1_Missense_Mutation_p.E100K|PASK_ENST00000358649.4_Missense_Mutation_p.E100K	p.E100K	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	3	389	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	100					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.298G>A	CCDS2545.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.811	0.935201	0.18206	.	.	ENSG00000115687	ENST00000234040;ENST00000405260;ENST00000358649;ENST00000403638;ENST00000452907	T;T;T;T	0.66280	-0.2;-0.2;-0.15;0.8	4.67	2.85	0.33270	.	0.549745	0.16193	N	0.225290	T	0.36991	0.0987	N	0.08118	0	0.09310	N	0.999997	B;B;B;B	0.10296	0.0;0.001;0.003;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25293	-1.0136	10	0.66056	D	0.02	.	4.3947	0.11356	0.178:0.6292:0.0:0.1928	.	100;100;100;100	B7Z7R6;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;PASK_HUMAN	K	100	ENSP00000234040:E100K;ENSP00000384016:E100K;ENSP00000351475:E100K;ENSP00000384438:E100K	ENSP00000234040:E100K	E	-	1	0	PASK	241728740	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.427000	0.02441	0.496000	0.27904	0.561000	0.74099	GAA		0.597	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		8	78	0	0	0	0.335167	0	8	78				
SUPT16H	11198	broad.mit.edu	37	14	21829070	21829070	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr14:21829070T>A	ENST00000216297.2	-	17	2329	c.1991A>T	c.(1990-1992)gAt>gTt	p.D664V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	664					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AATGTATAGATCTTTCAGTTT	0.418																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1990-1992)gAt>gTt		suppressor of Ty 16 homolog (S. cerevisiae)							119.0	113.0	115.0					14																	21829070		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21829070T>A	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1991A>T	14.37:g.21829070T>A	ENSP00000216297:p.Asp664Val						p.D664V	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	17	2329	-	all_cancers(95;0.00115)		664					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.1991A>T	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.682938	0.88542	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.54	5.54	0.83059	FACT complex subunit Spt16p/Cdc68p (1);	0.000000	0.85682	D	0.000000	D	0.85605	0.5735	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89130	0.3509	9	0.87932	D	0	-21.6738	14.654	0.68820	0.0:0.0:0.0:1.0	.	664	Q9Y5B9	SP16H_HUMAN	V	664	.	ENSP00000216297:D664V	D	-	2	0	SUPT16H	20898910	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.221000	0.78016	2.111000	0.64477	0.402000	0.26972	GAT		0.418	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			7	55	0	0	0	0.278610	0	7	55				
METTL14	57721	broad.mit.edu	37	4	119631282	119631282	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr4:119631282C>T	ENST00000388822.5	+	11	1363	c.1196C>T	c.(1195-1197)tCg>tTg	p.S399L	METTL14_ENST00000506780.1_Missense_Mutation_p.S361L			Q9HCE5	MET14_HUMAN	methyltransferase like 14	399					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						CGACCAAAATCGCCTCCTCCC	0.458																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(1195-1197)tCg>tTg		methyltransferase like 14							70.0	72.0	71.0					4																	119631282		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119631282C>T	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.1196C>T	4.37:g.119631282C>T	ENSP00000373474:p.Ser399Leu					METTL14_ENST00000506780.1_Missense_Mutation_p.S361L	p.S399L			Q9HCE5	MTL14_HUMAN			11	1363	+			399					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.1196C>T	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529283	0.85706	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	5.62	5.62	0.85841	.	0.059847	0.64402	D	0.000001	T	0.73297	0.3569	M	0.91612	3.225	0.80722	D	1	P;B	0.35844	0.524;0.382	B;B	0.25140	0.058;0.058	T	0.79502	-0.1777	9	0.87932	D	0	-8.3468	19.69	0.95996	0.0:1.0:0.0:0.0	.	361;399	D6RBL4;Q9HCE5	.;MTL14_HUMAN	L	399;361	.	ENSP00000373474:S399L	S	+	2	0	METTL14	119850730	1.000000	0.71417	0.923000	0.36655	0.988000	0.76386	7.476000	0.81055	2.648000	0.89879	0.650000	0.86243	TCG		0.458	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		28	48	0	0	0	0.740014	0	28	48				
DISP1	84976	broad.mit.edu	37	1	223163994	223163994	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:223163994G>A	ENST00000284476.6	+	4	731	c.567G>A	c.(565-567)ccG>ccA	p.P189P	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	189					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)		CCGACTGGCCGGTGGTGGTCT	0.493																																						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.(565-567)ccG>ccA		dispatched homolog 1 (Drosophila)							247.0	219.0	229.0					1																	223163994		2203	4300	6503	SO:0001819	synonymous_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.chr1:223163994G>A	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.567G>A	1.37:g.223163994G>A						DISP1_ENST00000495684.1_3'UTR	p.P189P	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	4	731	+			189					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.567G>A	CCDS1536.1																																																																																				0.493	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		4	188	0	0	0	0.184627	0	4	188				
MLF2	8079	broad.mit.edu	37	12	6858044	6858044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr12:6858044G>A	ENST00000203630.5	-	8	1308	c.664C>T	c.(664-666)Cga>Tga	p.R222*	MLF2_ENST00000542154.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000435120.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000539187.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000564181.1_5'Flank			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	222					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						TCCGCCCTTCGTCCCCCAGCC	0.711																																						ENST00000203630.5																			0				kidney(2)|large_intestine(3)|lung(4)	9						c.(664-666)Cga>Tga		myeloid leukemia factor 2							21.0	23.0	22.0					12																	6858044		2198	4282	6480	SO:0001587	stop_gained	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6858044G>A	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.664C>T	12.37:g.6858044G>A	ENSP00000203630:p.Arg222*					MLF2_ENST00000542154.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000435120.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000539187.1_Nonsense_Mutation_p.R222*	p.R222*			Q15773	MLF2_HUMAN			8	1308	-			222						Nonsense_Mutation	SNP	ENST00000203630.5	37	c.664C>T	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485219	0.44147	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.	.	.	5.08	4.09	0.47781	.	0.210963	0.41001	D	0.000964	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1897	0.81977	0.0:0.0:0.8577:0.1423	.	.	.	.	X	222	.	ENSP00000203630:R222X	R	-	1	2	MLF2	6728305	0.813000	0.29090	0.713000	0.30519	0.368000	0.29767	2.522000	0.45572	2.365000	0.80145	0.491000	0.48974	CGA		0.711	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			6	35	0	0	0	0.217242	0	6	35				
OR5D16	390144	broad.mit.edu	37	11	55607137	55607137	+	Nonsense_Mutation	SNP	C	C	T	rs542655306		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr11:55607137C>T	ENST00000378396.1	+	1	910	c.910C>T	c.(910-912)Cga>Tga	p.R304*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	304						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(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GGATGCAATCCGAAAAATAAT	0.333													-|||	1	0.000199681	0.0	0.0	5008	,	,		17709	0.0		0.001	False		,,,				2504	0.0					ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(910-912)Cga>Tga		olfactory receptor, family 5, subfamily D, member 16							29.0	31.0	31.0					11																	55607137		2200	4294	6494	SO:0001587	stop_gained	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55607137C>T	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.910C>T	11.37:g.55607137C>T	ENSP00000367649:p.Arg304*						p.R304*	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	910	+		all_epithelial(135;0.208)	304					Q6IF65|Q96RB4	Nonsense_Mutation	SNP	ENST00000378396.1	37	c.910C>T	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.287337	0.23478	.	.	ENSG00000205029	ENST00000378396	.	.	.	4.18	-0.539	0.11865	.	.	.	.	.	.	.	.	.	.	.	0.41978	D	0.99078	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	3.2619	0.7552	0.00997	0.4339:0.1629:0.2456:0.1576	.	.	.	.	X	304	.	ENSP00000367649:R304X	R	+	1	2	OR5D16	55363713	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	0.178000	0.16820	-0.297000	0.08934	-0.529000	0.04317	CGA		0.333	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		8	38	0	0	0	0.335167	0	8	38				
ACTL7B	10880	broad.mit.edu	37	9	111617256	111617256	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr9:111617256T>C	ENST00000374667.3	-	1	1983	c.955A>G	c.(955-957)Aca>Gca	p.T319A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	319						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGGCAGCTGTGAGCTCCGGG	0.652																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(955-957)Aca>Gca		actin-like 7B							31.0	39.0	36.0					9																	111617256		2193	4293	6486	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617256T>C	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.955A>G	9.37:g.111617256T>C	ENSP00000363799:p.Thr319Ala						p.T319A	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1983	-			319					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.955A>G	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678906	0.47886	.	.	ENSG00000148156	ENST00000374667	T	0.07216	3.21	5.24	4.09	0.47781	.	0.182612	0.26510	N	0.023975	T	0.06962	0.0177	N	0.25380	0.74	0.27972	N	0.93635	B	0.14805	0.011	B	0.18561	0.022	T	0.19095	-1.0316	10	0.87932	D	0	.	9.2838	0.37744	0.0:0.086:0.0:0.914	.	319	Q9Y614	ACL7B_HUMAN	A	319	ENSP00000363799:T319A	ENSP00000363799:T319A	T	-	1	0	ACTL7B	110657077	0.105000	0.21958	0.980000	0.43619	0.799000	0.45148	0.598000	0.24074	0.832000	0.34804	0.459000	0.35465	ACA		0.652	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		15	62	0	0	0	0.479597	0	15	62				
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	46	0	0	0	0.150653	0	3	46				
CRY2	1408	broad.mit.edu	37	11	45869058	45869058	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr11:45869058C>G	ENST00000443527.2	+	1	102	c.80C>G	c.(79-81)gCg>gGg	p.A27G	CRY2_ENST00000473199.1_3'UTR|CRY2_ENST00000417225.2_Intron	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	6	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						gcgactgtggcgacggcggca	0.721																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(79-81)gCg>gGg		cryptochrome 2 (photolyase-like)							6.0	11.0	9.0					11																	45869058		2065	4132	6197	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45869058C>G	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.80C>G	11.37:g.45869058C>G	ENSP00000406751:p.Ala27Gly					CRY2_ENST00000417225.2_Intron|CRY2_ENST00000473199.1_3'UTR	p.A27G	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			1	102	+			6			DNA photolyase.		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.80C>G	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382197	0.61845	.	.	ENSG00000121671	ENST00000443527	.	.	.	4.7	-9.4	0.00616	.	1.386070	0.04902	N	0.451529	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14952	-1.0454	9	0.21540	T	0.41	-0.0045	10.0038	0.41944	0.0:0.5382:0.3193:0.1425	.	27	B4DZD6	.	G	27	.	ENSP00000406751:A27G	A	+	2	0	CRY2	45825634	0.001000	0.12720	0.000000	0.03702	0.716000	0.41182	-0.729000	0.04920	-2.215000	0.00733	0.561000	0.74099	GCG		0.721	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		4	10	0	0	0	0.184627	0	4	10				
SOX11	6664	broad.mit.edu	37	2	5833182	5833182	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr2:5833182T>A	ENST00000322002.3	+	1	384	c.329T>A	c.(328-330)aTg>aAg	p.M110K	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	110					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTCAAGCACATGGCCGACTAC	0.642																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(328-330)aTg>aAg		SRY (sex determining region Y)-box 11							27.0	34.0	32.0					2																	5833182		2203	4300	6503	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833182T>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.329T>A	2.37:g.5833182T>A	ENSP00000322568:p.Met110Lys						p.M110K	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	384	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		110					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.329T>A	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178455	0.78564	.	.	ENSG00000176887	ENST00000322002	D	0.97752	-4.52	2.82	2.82	0.32997	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.97210	0.9088	L	0.42581	1.335	0.80722	D	1	D	0.58620	0.983	D	0.79108	0.992	D	0.95042	0.8179	10	0.17832	T	0.49	.	11.2381	0.48953	0.0:0.0:0.0:1.0	.	110	P35716	SOX11_HUMAN	K	110	ENSP00000322568:M110K	ENSP00000322568:M110K	M	+	2	0	SOX11	5750633	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.675000	0.61619	1.271000	0.44313	0.391000	0.25812	ATG		0.642	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		3	45	0	0	0	0.115264	0	3	45				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			4	76	0	0	0	0.184627	0	4	76				
XRCC4	7518	broad.mit.edu	37	5	82499425	82499425	+	Silent	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr5:82499425G>T	ENST00000511817.1	+	5	617	c.537G>T	c.(535-537)cgG>cgT	p.R179R	XRCC4_ENST00000282268.3_Silent_p.R179R|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Silent_p.R179R|XRCC4_ENST00000338635.6_Silent_p.R179R			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	179					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TTTATAAGCGGTTTATTCTGG	0.313								Non-homologous end-joining																														ENST00000282268.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17						c.(535-537)cgG>cgT	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 4							90.0	98.0	95.0					5																	82499425		2203	4300	6503	SO:0001819	synonymous_variant	7518				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding	g.chr5:82499425G>T	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.537G>T	5.37:g.82499425G>T						XRCC4_ENST00000396027.4_Silent_p.R179R|XRCC4_ENST00000511817.1_Silent_p.R179R|XRCC4_ENST00000338635.6_Silent_p.R179R|XRCC4_ENST00000509268.1_3'UTR	p.R179R	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)	5	712	+		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)	179					A8K3X4|Q9BS72|Q9UP94	Silent	SNP	ENST00000511817.1	37	c.537G>T	CCDS4059.1																																																																																				0.313	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		10	83	1	0	4.68919e-08	0.361761	5.2595e-08	10	83				
FAM47A	158724	broad.mit.edu	37	X	34150304	34150304	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chrX:34150304G>A	ENST00000346193.3	-	1	143	c.92C>T	c.(91-93)gCg>gTg	p.A31V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	31										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						CTTGCACTTCGCGAAGCACTT	0.612																																						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.(91-93)gCg>gTg		family with sequence similarity 47, member A							55.0	54.0	54.0					X																	34150304		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150304G>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.92C>T	X.37:g.34150304G>A	ENSP00000345029:p.Ala31Val						p.A31V	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	143	-			31					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.92C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340880	0.41498	.	.	ENSG00000185448	ENST00000346193	T	0.20069	2.1	1.41	1.41	0.22369	.	.	.	.	.	T	0.17534	0.0421	M	0.66939	2.045	0.09310	N	1	P	0.38280	0.625	B	0.28709	0.093	T	0.17289	-1.0374	9	0.51188	T	0.08	.	5.8027	0.18422	0.0:0.0:1.0:0.0	.	31	Q5JRC9	FA47A_HUMAN	V	31	ENSP00000345029:A31V	ENSP00000345029:A31V	A	-	2	0	FAM47A	34060225	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.120000	0.10660	1.007000	0.39238	0.544000	0.68410	GCG		0.612	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		19	31	0	0	0	0.575678	0	19	31				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	74	0	0	0	0.150653	0	4	74				
DNAH9	1770	broad.mit.edu	37	17	11535997	11535997	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr17:11535997C>A	ENST00000262442.4	+	8	1680	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	DNAH9_ENST00000454412.2_Missense_Mutation_p.P538T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	538	Stem. {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)		TGATGATGCACCTGGCTTGGA	0.458																																						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.(1612-1614)Cct>Act		dynein, axonemal, heavy chain 9							121.0	117.0	119.0					17																	11535997		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.chr17:11535997C>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.1612C>A	17.37:g.11535997C>A	ENSP00000262442:p.Pro538Thr					DNAH9_ENST00000454412.2_Missense_Mutation_p.P538T	p.P538T	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)	8	1680	+		Breast(5;0.0122)|all_epithelial(5;0.131)	538			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1612C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	0.248	-1.008810	0.02112	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.53640	0.61;0.61	5.18	0.188	0.15114	Dynein heavy chain, domain-1 (1);	4.199780	0.00669	N	0.000623	T	0.33118	0.0852	N	0.25890	0.77	0.24229	N	0.995409	B	0.14012	0.009	B	0.15870	0.014	T	0.11012	-1.0605	10	0.22109	T	0.4	.	4.1496	0.10232	0.0:0.3632:0.2968:0.3399	.	538	Q9NYC9	DYH9_HUMAN	T	538	ENSP00000262442:P538T;ENSP00000414874:P538T	ENSP00000262442:P538T	P	+	1	0	DNAH9	11476722	0.000000	0.05858	0.021000	0.16686	0.098000	0.18820	0.024000	0.13555	0.599000	0.29845	-0.143000	0.13931	CCT		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		47	78	1	0	1.56989e-16	0.870114	1.83523e-16	47	78				
BUD13	84811	broad.mit.edu	37	11	116629027	116629027	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr11:116629027T>C	ENST00000260210.4	-	7	1480	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	BUD13_ENST00000375445.3_Missense_Mutation_p.K352R	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	486					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTCTGAGTCCTTTTCTGCTTT	0.443																																						ENST00000260210.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(1456-1458)aAg>aGg		BUD13 homolog (S. cerevisiae)							251.0	223.0	232.0					11																	116629027		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116629027T>C	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1457A>G	11.37:g.116629027T>C	ENSP00000260210:p.Lys486Arg					BUD13_ENST00000375445.3_Missense_Mutation_p.K352R	p.K486R	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	7	1480	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	486					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1457A>G	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.345853	0.61073	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.20200	2.12;2.09	5.6	5.6	0.85130	.	0.141094	0.64402	D	0.000007	T	0.24928	0.0605	L	0.31371	0.925	0.37797	D	0.927575	P;P	0.51653	0.734;0.947	B;P	0.51101	0.39;0.659	T	0.07121	-1.0789	10	0.87932	D	0	-22.7288	12.8043	0.57605	0.0:0.0:0.1452:0.8548	.	352;486	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	R	352;486	ENSP00000364594:K352R;ENSP00000260210:K486R	ENSP00000260210:K486R	K	-	2	0	BUD13	116134237	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.165000	0.58196	2.251000	0.74343	0.528000	0.53228	AAG		0.443	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		3	193	0	0	0	0.115264	0	3	193				
MEFV	4210	broad.mit.edu	37	16	3306386	3306386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr16:3306386G>A	ENST00000219596.1	-	1	241	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	MEFV_ENST00000541159.1_Nonsense_Mutation_p.Q68*|MEFV_ENST00000536379.1_Nonsense_Mutation_p.Q68*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.Q68*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	68	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						AGGGTGAGCTGCACGGCGTAC	0.657																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(202-204)Cag>Tag		Mediterranean fever	Colchicine(DB01394)						60.0	60.0	60.0					16																	3306386		2197	4300	6497	SO:0001587	stop_gained	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3306386G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.202C>T	16.37:g.3306386G>A	ENSP00000219596:p.Gln68*					MEFV_ENST00000536379.1_Nonsense_Mutation_p.Q68*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.Q68*|MEFV_ENST00000541159.1_Nonsense_Mutation_p.Q68*	p.Q68*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			1	241	-			68			DAPIN.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Nonsense_Mutation	SNP	ENST00000219596.1	37	c.202C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506862	0.64410	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	.	.	.	5.98	2.65	0.31530	.	1.408930	0.04649	N	0.406848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-2.4707	11.5104	0.50490	0.0:0.0:0.4187:0.5812	.	.	.	.	X	68	.	ENSP00000219596:Q68X	Q	-	1	0	MEFV	3246387	0.000000	0.05858	0.004000	0.12327	0.187000	0.23431	0.351000	0.20096	0.806000	0.34183	0.591000	0.81541	CAG		0.657	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		4	123	0	0	0	0.217242	0	4	123				
FSTL1	11167	broad.mit.edu	37	3	120130764	120130764	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:120130764G>A	ENST00000295633.3	-	4	591	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	FSTL1_ENST00000424703.2_Silent_p.L44L	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	79	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TCTCGATGCAGTTCACAGTGG	0.493																																						ENST00000295633.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20						c.(235-237)Ctg>Ttg		follistatin-like 1							247.0	196.0	213.0					3																	120130764		2203	4300	6503	SO:0001819	synonymous_variant	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120130764G>A	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.235C>T	3.37:g.120130764G>A						FSTL1_ENST00000424703.2_Silent_p.L44L	p.L79L	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	4	591	-			79			Kazal-like.		A8K523|B4DTT5|D3DN90|Q549Z0	Silent	SNP	ENST00000295633.3	37	c.235C>T	CCDS2998.1																																																																																				0.493	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		4	157	0	0	0	0.184627	0	4	157				
ZDHHC16	84287	broad.mit.edu	37	10	99212187	99212187	+	Missense_Mutation	SNP	G	G	A	rs151287328		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr10:99212187G>A	ENST00000370854.3	+	4	643	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000393760.1_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.A87T|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.A152T	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	152					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GAATGATATCGCCACCGTCTC	0.532																																						ENST00000393760.1																			0				kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14						c.(454-456)Gcc>Acc		zinc finger, DHHC-type containing 16		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	136.0	124.0	129.0		454,454,454,259,454	5.0	0.7	10	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ZDHHC16	NM_032327.2,NM_198043.1,NM_198044.1,NM_198045.1,NM_198046.1	58,58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	152/378,152/362,152/339,87/297,152/378	99212187	1,13005	2203	4300	6503	SO:0001583	missense	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99212187G>A	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.454G>A	10.37:g.99212187G>A	ENSP00000359891:p.Ala152Thr					ZDHHC16_ENST00000353979.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.A87T|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000495735.1_3'UTR	p.A152T	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	5	803	+		Colorectal(252;0.0846)	152					D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	c.454G>A	CCDS7460.1	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111705	0.20714	0.0	1.16E-4	ENSG00000171307	ENST00000370854;ENST00000393760;ENST00000414567;ENST00000370846;ENST00000352634;ENST00000353979;ENST00000370842;ENST00000345745;ENST00000433086	T;T;T;T;T;T;T;T	0.72725	0.63;0.63;-0.09;-0.68;0.32;0.32;-0.07;0.34	5.95	5.03	0.67393	.	0.159012	0.56097	N	0.000027	T	0.48714	0.1515	N	0.16266	0.395	0.35015	D	0.757283	B;B;B;B;B;B;B;B	0.13145	0.0;0.0;0.007;0.004;0.0;0.001;0.003;0.0	B;B;B;B;B;B;B;B	0.09377	0.002;0.002;0.004;0.003;0.002;0.002;0.002;0.001	T	0.50939	-0.8768	10	0.15066	T	0.55	-14.7595	6.6928	0.23183	0.1698:0.148:0.6822:0.0	.	152;87;152;127;152;87;152;152	B4DNL2;E9PCL9;B1AMU0;B1AMU1;Q969W1-3;Q969W1-4;Q969W1-2;Q969W1	.;.;.;.;.;.;.;ZDH16_HUMAN	T	152;152;152;152;152;152;152;87;87	ENSP00000359891:A152T;ENSP00000377357:A152T;ENSP00000400719:A152T;ENSP00000359883:A152T;ENSP00000345383:A152T;ENSP00000359879:A152T;ENSP00000304487:A87T;ENSP00000398532:A87T	ENSP00000304487:A87T	A	+	1	0	ZDHHC16	99202177	0.998000	0.40836	0.653000	0.29593	0.895000	0.52256	4.575000	0.60908	1.482000	0.48325	0.561000	0.74099	GCC		0.532	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		16	87	0	0	0	0.608945	0	16	87				
OR10K1	391109	broad.mit.edu	37	1	158436009	158436009	+	Missense_Mutation	SNP	C	C	T	rs185874732		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:158436009C>T	ENST00000289451.2	+	1	738	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, 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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CTCCTACATCCGCATCATCTC	0.478													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22474	0.0		0.0	False		,,,				2504	0.0					ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(658-660)Cgc>Tgc		olfactory receptor, family 10, subfamily K, member 1		C	CYS/ARG	0,4406		0,0,2203	127.0	118.0	121.0		658	4.2	0.0	1		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10K1	NM_001004473.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	220/314	158436009	1,13005	2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436009C>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.658C>T	1.37:g.158436009C>T	ENSP00000289451:p.Arg220Cys						p.R220C	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	738	+	all_hematologic(112;0.0378)		220					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.658C>T	CCDS30897.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	1.332	-0.596619	0.03771	0.0	1.16E-4	ENSG00000173285	ENST00000289451	T	0.00099	8.73	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.990047	0.08200	N	0.982456	T	0.00039	0.0001	N	0.04636	-0.2	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.13953	-1.0490	10	0.35671	T	0.21	.	9.3686	0.38239	0.0:0.8989:0.0:0.1011	.	220	Q8NGX5	O10K1_HUMAN	C	220	ENSP00000289451:R220C	ENSP00000289451:R220C	R	+	1	0	OR10K1	156702633	0.000000	0.05858	0.021000	0.16686	0.131000	0.20780	-1.500000	0.02283	2.160000	0.67779	0.557000	0.71058	CGC		0.478	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			21	82	0	0	0	0.639603	0	21	82				
DNAJB11	51726	broad.mit.edu	37	3	186299282	186299282	+	Silent	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:186299282C>T	ENST00000439351.1	+	6	1508	c.579C>T	c.(577-579)tgC>tgT	p.C193C	DNAJB11_ENST00000265028.3_Silent_p.C193C			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	193					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGTGGTCTGCGACGAATGCC	0.502																																						ENST00000439351.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(577-579)tgC>tgT		DnaJ (Hsp40) homolog, subfamily B, member 11							82.0	84.0	84.0					3																	186299282		2203	4300	6503	SO:0001819	synonymous_variant	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186299282C>T	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.579C>T	3.37:g.186299282C>T						DNAJB11_ENST00000265028.3_Silent_p.C193C	p.C193C			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	6	1508	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		193					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Silent	SNP	ENST00000439351.1	37	c.579C>T	CCDS3277.1																																																																																				0.502	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			8	89	0	0	0	0.335167	0	8	89				
ZNF597	146434	broad.mit.edu	37	16	3487540	3487540	+	Splice_Site	SNP	T	T	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr16:3487540T>G	ENST00000301744.4	-	4	396		c.e4-2			NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597						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(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CTTCCTCTCCTGTTGATAAAA	0.418																																						ENST00000301744.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						c.e4-2		zinc finger protein 597							37.0	38.0	38.0					16																	3487540		2197	4300	6497	SO:0001630	splice_region_variant	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3487540T>G	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.161-2A>C	16.37:g.3487540T>G						LA16c-306E5.2_ENST00000575785.1_RNA		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN			4	396	-									Splice_Site	SNP	ENST00000301744.4	37		CCDS10505.1	.	.	.	.	.	.	.	.	.	.	T	9.966	1.224097	0.22457	.	.	ENSG00000167981	ENST00000301744	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7372	0.46133	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF597	3427541	0.861000	0.29849	1.000000	0.80357	0.816000	0.46133	0.936000	0.28938	2.095000	0.63458	0.523000	0.50628	.		0.418	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457	Intron	13	31	0	0	0	0.457914	0	13	31				
ANKHD1	54882	broad.mit.edu	37	5	139887388	139887388	+	Silent	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr5:139887388T>A	ENST00000360839.2	+	20	3724	c.3570T>A	c.(3568-3570)ggT>ggA	p.G1190G	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1190G|ANKHD1_ENST00000297183.6_Silent_p.G1190G	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1190						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAAACTAGGTATTTCTCCCC	0.368																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(3568-3570)ggT>ggA		ankyrin repeat and KH domain containing 1							76.0	73.0	74.0					5																	139887388		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139887388T>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3570T>A	5.37:g.139887388T>A						ANKHD1_ENST00000360839.2_Silent_p.G1190G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1190G	p.G1190G	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		20	3694	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.3570T>A	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	T	9.567	1.120000	0.20877	.	.	ENSG00000131503	ENST00000246149	.	.	.	5.68	2.23	0.28157	.	.	.	.	.	T	0.43233	0.1238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24261	-1.0165	4	.	.	.	.	1.5537	0.02580	0.1354:0.1497:0.273:0.4419	.	.	.	.	E	416	.	.	V	+	2	0	ANKHD1	139867572	0.976000	0.34144	1.000000	0.80357	0.998000	0.95712	0.146000	0.16180	0.158000	0.19367	0.524000	0.50904	GTA		0.368	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		6	111	0	0	0	0.278610	0	6	111				
FKBP9P1	360132	broad.mit.edu	37	7	55752886	55752886	+	RNA	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr7:55752886G>A	ENST00000455909.1	-	0	677				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)	p.N77N(1)		endometrium(1)|kidney(1)|lung(3)	5						GGACTTCTCCGTTGCCATCCT	0.557																																						ENST00000455909.1																			1	Substitution - coding silent(1)	p.N77N(1)	endometrium(1)	endometrium(1)|kidney(1)|lung(3)	5								FK506 binding protein 9-like							94.0	85.0	88.0					7																	55752886		692	1591	2283			360132							g.chr7:55752886G>A																													7.37:g.55752886G>A								NR_027340.1|NR_027342.1						0	677	-								B2R7H1	RNA	SNP	ENST00000455909.1	37																																																																																						0.557	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			3	54	0	0	0	0.115264	0	3	54				
MED26	9441	broad.mit.edu	37	19	16688032	16688032	+	Silent	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr19:16688032G>T	ENST00000263390.3	-	3	871	c.609C>A	c.(607-609)ggC>ggA	p.G203G	CTD-3222D19.2_ENST00000409035.1_Silent_p.G211G|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	203					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGCCCTCTGGGCCTGCATGCC	0.672																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(607-609)ggC>ggA		mediator complex subunit 26							52.0	61.0	58.0					19																	16688032		2200	4300	6500	SO:0001819	synonymous_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16688032G>T	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.609C>A	19.37:g.16688032G>T						CTD-3222D19.2_ENST00000409035.1_Silent_p.G211G	p.G203G	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	871	-			203					A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	c.609C>A	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	0.053	-1.245261	0.01481	.	.	ENSG00000105085	ENST00000453758	.	.	.	4.44	0.839	0.18907	.	.	.	.	.	T	0.25975	0.0633	.	.	.	0.24539	N	0.99408	.	.	.	.	.	.	T	0.26815	-1.0092	5	0.42905	T	0.14	-18.3929	1.392	0.02253	0.2264:0.2648:0.3748:0.1339	.	.	.	.	T	86	.	ENSP00000416503:P86T	P	-	1	0	MED26	16549032	1.000000	0.71417	0.015000	0.15790	0.003000	0.03518	1.545000	0.36169	0.342000	0.23796	0.555000	0.69702	CCC		0.672	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		10	143	1	0	6.40141e-05	0.387290	7.08423e-05	10	143				
FLNC	2318	broad.mit.edu	37	7	128475497	128475497	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr7:128475497G>A	ENST00000325888.8	+	2	731	c.470G>A	c.(469-471)cGc>cAc	p.R157H	FLNC_ENST00000346177.6_Missense_Mutation_p.R157H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	157	Actin-binding.				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						GAGGATGCCCGCAAACAGACG	0.582																																						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.(469-471)cGc>cAc		filamin C, gamma							81.0	91.0	88.0					7																	128475497		2203	4300	6503	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128475497G>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.470G>A	7.37:g.128475497G>A	ENSP00000327145:p.Arg157His					FLNC_ENST00000346177.6_Missense_Mutation_p.R157H	p.R157H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			2	731	+			157			Actin-binding.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.470G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581777	0.86748	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85339	-1.97;-1.97	5.84	5.84	0.93424	Calponin homology domain (2);	0.117221	0.53938	D	0.000058	T	0.79375	0.4435	N	0.16478	0.41	0.44006	D	0.996713	D;B	0.58970	0.984;0.024	P;B	0.50659	0.647;0.007	T	0.80872	-0.1188	10	0.87932	D	0	.	8.5759	0.33598	0.1622:0.0:0.8378:0.0	.	157;157	Q14315-2;Q14315	.;FLNC_HUMAN	H	157	ENSP00000327145:R157H;ENSP00000344002:R157H	ENSP00000327145:R157H	R	+	2	0	FLNC	128262733	0.996000	0.38824	1.000000	0.80357	0.884000	0.51177	2.445000	0.44899	2.768000	0.95171	0.561000	0.74099	CGC		0.582	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			4	162	0	0	0	0.150653	0	4	162				
OTOP1	133060	broad.mit.edu	37	4	4199531	4199531	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr4:4199531C>T	ENST00000296358.4	-	5	1054	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	344					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTGCCGACTCGCTCTTGGTC	0.577																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1030-1032)Gag>Aag		otopetrin 1							50.0	49.0	49.0					4																	4199531		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199531C>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1030G>A	4.37:g.4199531C>T	ENSP00000296358:p.Glu344Lys						p.E344K	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1054	-			344					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1030G>A	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082908	0.55861	.	.	ENSG00000163982	ENST00000296358	T	0.19938	2.11	4.8	3.95	0.45737	.	0.058282	0.64402	D	0.000002	T	0.43478	0.1249	M	0.69823	2.125	0.58432	D	0.999999	D	0.76494	0.999	D	0.63793	0.918	T	0.47328	-0.9126	10	0.66056	D	0.02	-5.9162	15.2829	0.73801	0.0:0.8589:0.1411:0.0	.	344	Q7RTM1	OTOP1_HUMAN	K	344	ENSP00000296358:E344K	ENSP00000296358:E344K	E	-	1	0	OTOP1	4250432	1.000000	0.71417	0.998000	0.56505	0.160000	0.22226	4.530000	0.60595	1.137000	0.42214	-0.714000	0.03626	GAG		0.577	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		32	62	0	0	0	0.853193	0	32	62				
KPRP	448834	broad.mit.edu	37	1	152733398	152733398	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:152733398G>A	ENST00000606109.1	+	1	1362	c.1334G>A	c.(1333-1335)cGg>cAg	p.R445Q	KPRP_ENST00000368773.1_Missense_Mutation_p.R445Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	445	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAACACCGCGGCCAGTTCCC	0.582																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1333-1335)cGg>cAg		keratinocyte proline-rich protein							169.0	170.0	170.0					1																	152733398		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733398G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1334G>A	1.37:g.152733398G>A	ENSP00000475216:p.Arg445Gln					KPRP_ENST00000606109.1_Missense_Mutation_p.R445Q	p.R445Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1392	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		445			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1334G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600698	0.13939	.	.	ENSG00000203786	ENST00000368773	T	0.15256	2.44	1.66	1.66	0.24008	.	0.339830	0.21778	N	0.069258	T	0.02888	0.0086	L	0.38175	1.15	0.09310	N	1	P	0.39250	0.665	B	0.23419	0.046	T	0.41734	-0.9492	10	0.16896	T	0.51	-4.7283	9.3095	0.37895	0.0:0.0:1.0:0.0	.	445	Q5T749	KPRP_HUMAN	Q	445	ENSP00000357762:R445Q	ENSP00000357762:R445Q	R	+	2	0	KPRP	151000022	0.118000	0.22208	0.026000	0.17262	0.034000	0.12701	1.691000	0.37721	1.244000	0.43870	0.462000	0.41574	CGG		0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		78	157	0	0	0	0.870114	0	78	157				
OR2T12	127064	broad.mit.edu	37	1	248458842	248458842	+	Silent	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:248458842T>C	ENST00000317996.1	-	1	38	c.39A>G	c.(37-39)ctA>ctG	p.L13L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L13L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TAAAGAGTCCTAGGAGAATAA	0.448																																						ENST00000317996.1																			1	Substitution - coding silent(1)	p.L13L(1)	lung(1)	endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(37-39)ctA>ctG		olfactory receptor, family 2, subfamily T, member 12							77.0	78.0	78.0					1																	248458842		2203	4298	6501	SO:0001819	synonymous_variant	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458842T>C	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.39A>G	1.37:g.248458842T>C							p.L13L	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	38	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		13						Silent	SNP	ENST00000317996.1	37	c.39A>G	CCDS31110.1																																																																																				0.448	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		5	190	0	0	0	0.248553	0	5	190				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	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	45	0	0	0	0.150653	0	4	45				
TUSC5	286753	broad.mit.edu	37	17	1183623	1183623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr17:1183623G>A	ENST00000333813.3	+	1	667	c.328G>A	c.(328-330)Gtc>Atc	p.V110I		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	110					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGGCCGTCGTCGCCTGCTT	0.632																																						ENST00000333813.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(328-330)Gtc>Atc		tumor suppressor candidate 5							84.0	94.0	90.0					17																	1183623		1962	4126	6088	SO:0001583	missense	286753				response to biotic stimulus	integral to membrane		g.chr17:1183623G>A	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.328G>A	17.37:g.1183623G>A	ENSP00000329548:p.Val110Ile						p.V110I	NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	667	+			110					A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	c.328G>A	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539720	0.27563	.	.	ENSG00000184811	ENST00000333813	D	0.86164	-2.08	5.28	-0.51	0.11973	.	0.594141	0.16497	U	0.211856	T	0.61261	0.2333	N	0.02802	-0.49	0.19575	N	0.999967	B	0.28801	0.223	B	0.20184	0.028	T	0.55055	-0.8200	10	0.38643	T	0.18	-9.2616	0.5522	0.00664	0.2633:0.1259:0.337:0.2738	.	110	Q8IXB3	TUSC5_HUMAN	I	110	ENSP00000329548:V110I	ENSP00000329548:V110I	V	+	1	0	TUSC5	1130373	0.953000	0.32496	0.997000	0.53966	0.551000	0.35334	0.457000	0.21875	0.247000	0.21414	0.537000	0.68136	GTC		0.632	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		10	127	0	0	0	0.335167	0	10	127				
SSPO	23145	broad.mit.edu	37	7	149489766	149489766	+	RNA	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr7:149489766G>A	ENST00000378016.2	+	0	5822							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)			AACAACCCCCGCCCCTCCGGC	0.697																																						ENST00000378016.2																			0													SCO-spondin							20.0	28.0	25.0					7																	149489766		1990	4134	6124			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489766G>A	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.149489766G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	5822	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				29	29	0	0	0	0.740014	0	29	29				
DUS3L	56931	broad.mit.edu	37	19	5788166	5788166	+	Missense_Mutation	SNP	G	G	A	rs545783379		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr19:5788166G>A	ENST00000309061.7	-	5	1060	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.R80W|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	322							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						TTGCAGATCCGTCGGAAGGGC	0.612																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(964-966)Cgg>Tgg		dihydrouridine synthase 3-like (S. cerevisiae)							46.0	47.0	47.0					19																	5788166		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5788166G>A		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.964C>T	19.37:g.5788166G>A	ENSP00000311977:p.Arg322Trp					DUS3L_ENST00000320699.8_Missense_Mutation_p.R80W	p.R322W	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			5	1060	-			322					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.964C>T	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036913	0.54896	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.32753	1.44;1.44	3.78	2.68	0.31781	Aldolase-type TIM barrel (1);	0.000000	0.64402	U	0.000001	T	0.62756	0.2454	H	0.95850	3.73	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.69327	-0.5174	10	0.87932	D	0	-17.1384	7.6301	0.28234	0.0:0.0:0.5388:0.4612	.	80;322	Q96G46-3;Q96G46	.;DUS3L_HUMAN	W	322;80	ENSP00000311977:R322W;ENSP00000315558:R80W	ENSP00000311977:R322W	R	-	1	2	DUS3L	5739166	0.998000	0.40836	0.976000	0.42696	0.523000	0.34469	2.644000	0.46613	1.672000	0.50884	0.306000	0.20318	CGG		0.612	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		7	51	0	0	0	0.307466	0	7	51				
ZNF292	23036	broad.mit.edu	37	6	87966666	87966666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:87966666C>T	ENST00000369577.3	+	8	3362	c.3319C>T	c.(3319-3321)Cga>Tga	p.R1107*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R1102*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1107						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 positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGATGTACTCGAACCTATAA	0.443																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(3319-3321)Cga>Tga		zinc finger protein 292							57.0	53.0	54.0					6																	87966666		1870	4103	5973	SO:0001587	stop_gained	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966666C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3319C>T	6.37:g.87966666C>T	ENSP00000358590:p.Arg1107*					ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R1102*	p.R1107*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	3362	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1107					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	ENST00000369577.3	37	c.3319C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	40	8.178519	0.98691	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	.	.	.	5.55	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4314	0.61057	0.2857:0.7143:0.0:0.0	.	.	.	.	X	1107;1102	.	ENSP00000342847:R1102X	R	+	1	2	ZNF292	88023385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.097000	0.50251	1.321000	0.45227	0.591000	0.81541	CGA		0.443	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		5	47	0	0	0	0.184627	0	5	47				
LRP10	26020	broad.mit.edu	37	14	23344794	23344794	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr14:23344794T>C	ENST00000359591.4	+	5	1328	c.637T>C	c.(637-639)Tca>Cca	p.S213P	LRP10_ENST00000546834.1_Missense_Mutation_p.S213P	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	213	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACACCTAGCCTCAGTCTCCCA	0.627																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(637-639)Tca>Cca		low density lipoprotein receptor-related protein 10							101.0	91.0	94.0					14																	23344794		2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23344794T>C	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.637T>C	14.37:g.23344794T>C	ENSP00000352601:p.Ser213Pro					LRP10_ENST00000546834.1_Missense_Mutation_p.S213P	p.S213P	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1328	+	all_cancers(95;4.69e-05)		213			CUB 2.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.637T>C	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.470|3.470	-0.108054|-0.108054	0.06924|0.06924	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	.|T;T	.|0.27557	.|1.66;1.66	5.2|5.2	2.79|2.79	0.32731|0.32731	.|CUB (5);	.|0.361075	.|0.23021	.|N	.|0.052857	T|T	0.13628|0.13628	0.0330|0.0330	N|N	0.10809|0.10809	0.05|0.05	0.09310|0.09310	N|N	1|1	.|B	.|0.17268	.|0.021	.|B	.|0.20767	.|0.031	T|T	0.16424|0.16424	-1.0403|-1.0403	5|10	.|0.26408	.|T	.|0.33	-7.6918|-7.6918	4.6223|4.6223	0.12461|0.12461	0.0:0.1589:0.1802:0.6609|0.0:0.1589:0.1802:0.6609	.|.	.|213	.|Q7Z4F1	.|LRP10_HUMAN	P|P	114|213	.|ENSP00000352601:S213P;ENSP00000447559:S213P	.|ENSP00000352601:S213P	L|S	+|+	2|1	0|0	LRP10|LRP10	22414634|22414634	0.000000|0.000000	0.05858|0.05858	0.894000|0.894000	0.35097|0.35097	0.134000|0.134000	0.20937|0.20937	0.120000|0.120000	0.15647|0.15647	0.986000|0.986000	0.38683|0.38683	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.627	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			3	189	0	0	0	0.150653	0	3	189				
MMACHC	25974	broad.mit.edu	37	1	45974618	45974618	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:45974618G>A	ENST00000401061.4	+	4	860	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	194					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGCCCTACTCGAAGGCTTCAA	0.562																																						ENST00000401061.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(580-582)Gaa>Aaa		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						113.0	121.0	118.0					1																	45974618		2058	4192	6250	SO:0001583	missense	25974						cobalamin binding	g.chr1:45974618G>A		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.580G>A	1.37:g.45974618G>A	ENSP00000383840:p.Glu194Lys						p.E194K	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			4	860	+	Acute lymphoblastic leukemia(166;0.155)		194					Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	c.580G>A	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293323	0.95546	.	.	ENSG00000132763	ENST00000401061	D	0.98135	-4.74	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.98406	0.9470	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	P	0.56960	0.81	D	0.98942	1.0791	10	0.62326	D	0.03	-14.1818	19.4484	0.94857	0.0:0.0:1.0:0.0	.	194	Q9Y4U1	MMAC_HUMAN	K	194	ENSP00000383840:E194K	ENSP00000383840:E194K	E	+	1	0	MMACHC	45747205	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	9.400000	0.97290	2.711000	0.92665	0.563000	0.77884	GAA		0.562	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		11	138	0	0	0	0.411799	0	11	138				
DNAH1	25981	broad.mit.edu	37	3	52402841	52402841	+	Silent	SNP	G	G	A	rs374690567		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:52402841G>A	ENST00000420323.2	+	37	6111	c.5850G>A	c.(5848-5850)ccG>ccA	p.P1950P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1950	AAA 2. {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)		TCGATGGGCCGGTGGATGCCA	0.572																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5848-5850)ccG>ccA		dynein, axonemal, heavy chain 1		G		0,4196		0,0,2098	137.0	142.0	140.0		5850	-9.9	0.2	3		140	6,8466		0,6,4230	no	coding-synonymous	DNAH1	NM_015512.4		0,6,6328	AA,AG,GG		0.0708,0.0,0.0474		1950/4266	52402841	6,12662	2098	4236	6334	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.chr3:52402841G>A	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.5850G>A	3.37:g.52402841G>A							p.P1950P	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)	37	6111	+			1950			AAA 2 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.5850G>A	CCDS46842.1																																																																																				0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	241	0	0	0	0.150653	0	4	241				
PTGS1	5742	broad.mit.edu	37	9	125154663	125154663	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr9:125154663G>A	ENST00000362012.2	+	11	1645	c.1640G>A	c.(1639-1641)aGc>aAc	p.S547N	PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N|PTGS1_ENST00000223423.4_Missense_Mutation_p.S510N|PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	547					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGGAAGCCGAGCACATTTGGC	0.527																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1639-1641)aGc>aAc		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						115.0	113.0	114.0					9																	125154663		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	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.chr9:125154663G>A	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1640G>A	9.37:g.125154663G>A	ENSP00000354612:p.Ser547Asn					PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N|PTGS1_ENST00000223423.4_Missense_Mutation_p.S510N|PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N	p.S547N	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			11	1645	+			547					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1640G>A	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153043	0.94645	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.55055	-0.8200	10	0.87932	D	0	-31.7031	18.2032	0.89846	0.0:0.0:1.0:0.0	.	485;547;510	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	N	485;547;510;438	ENSP00000437709:S485N;ENSP00000354612:S547N;ENSP00000223423:S510N;ENSP00000362802:S438N	ENSP00000223423:S510N	S	+	2	0	PTGS1	124194484	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	9.864000	0.99589	2.539000	0.85634	0.655000	0.94253	AGC		0.527	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			9	138	0	0	0	0.387290	0	9	138				
CDK12	51755	broad.mit.edu	37	17	37687433	37687433	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr17:37687433G>A	ENST00000447079.4	+	14	4370	c.4337G>A	c.(4336-4338)gGa>gAa	p.G1446E	CDK12_ENST00000430627.2_Missense_Mutation_p.G1437E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1446					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTGGGGCCAGGAACCACTGGG	0.577			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(4336-4338)gGa>gAa		cyclin-dependent kinase 12							52.0	58.0	56.0					17																	37687433		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687433G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4337G>A	17.37:g.37687433G>A	ENSP00000398880:p.Gly1446Glu	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.G1437E	p.G1446E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	4370	+			1446					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.4337G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	4.546	0.101397	0.08731	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.64260	-0.09;0.06	5.54	4.58	0.56647	.	0.000000	0.48286	D	0.000190	T	0.30572	0.0769	N	0.02539	-0.55	0.38526	D	0.948843	B;B	0.16802	0.011;0.019	B;B	0.17433	0.008;0.018	T	0.32955	-0.9887	10	0.02654	T	1	-5.558	10.5931	0.45321	0.0724:0.1333:0.7943:0.0	.	1446;1437	Q9NYV4;Q9NYV4-2	CDK12_HUMAN;.	E	1437;1446	ENSP00000407720:G1437E;ENSP00000398880:G1446E	ENSP00000407720:G1437E	G	+	2	0	CDK12	34940959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.263000	0.65507	1.583000	0.49898	-0.142000	0.14014	GGA		0.577	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		35	70	0	0	0	0.827153	0	35	70				
FAM74A7	100996582	broad.mit.edu	37	9	40716047	40716047	+	lincRNA	SNP	G	G	A	rs529135402	byFrequency	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr9:40716047G>A	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA														p.V67M(1)									CGGAGAAGACGTGGAAAGAGC	0.547													G|||	2	0.000399361	0.0	0.0	5008	,	,		24081	0.001		0.0	False		,,,				2504	0.001					ENST00000604146.1																			1	Substitution - Missense(1)	p.V67M(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10																																														0							g.chr9:40716047G>A																													9.37:g.40716047G>A								NR_026801.1					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	0	386	+									RNA	SNP	ENST00000432614.1	37																																																																																						0.547	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			20	37	0	0	0	0.706142	0	20	37				
ATP8B4	79895	broad.mit.edu	37	15	50212487	50212487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr15:50212487C>A	ENST00000284509.6	-	18	2020	c.1879G>T	c.(1879-1881)Gaa>Taa	p.E627*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E627*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	627						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCTATTCGTTCATCCCTCTCT	0.413																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(1879-1881)Gaa>Taa		ATPase, class I, type 8B, member 4							196.0	181.0	186.0					15																	50212487		2196	4295	6491	SO:0001587	stop_gained	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50212487C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1879G>T	15.37:g.50212487C>A	ENSP00000284509:p.Glu627*					ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E627*	p.E627*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	18	2020	-		all_lung(180;0.00183)	627					Q9H727	Nonsense_Mutation	SNP	ENST00000284509.6	37	c.1879G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	37	6.028551	0.97216	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.49	4.52	0.55395	.	0.301292	0.34555	N	0.003879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	13.4632	0.61239	0.0:0.8416:0.1584:0.0	.	.	.	.	X	627	.	ENSP00000284509:E627X	E	-	1	0	ATP8B4	47999779	0.998000	0.40836	1.000000	0.80357	0.803000	0.45373	3.720000	0.54933	2.587000	0.87381	0.561000	0.74099	GAA		0.413	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		4	176	1	0	0.014758	0.184627	0.015704	4	176				
RYR2	6262	broad.mit.edu	37	1	237754210	237754210	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:237754210G>T	ENST00000366574.2	+	31	4395	c.4078G>T	c.(4078-4080)Gac>Tac	p.D1360Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D1344Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D1358Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1360	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGATCGTGTTGACAAAGACAA	0.423																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4078-4080)Gac>Tac		ryanodine receptor 2 (cardiac)							69.0	65.0	66.0					1																	237754210		1899	4118	6017	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237754210G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4078G>T	1.37:g.237754210G>T	ENSP00000355533:p.Asp1360Tyr					RYR2_ENST00000542537.1_Missense_Mutation_p.D1344Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D1358Y	p.D1360Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4395	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1360			4 X approximate repeats.|B30.2/SPRY 3.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4078G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	18.15	3.560001	0.65538	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96685	-4.09;-4.06;-4.08	5.25	5.25	0.73442	B30.2/SPRY domain (1);	0.252645	0.30999	N	0.008451	D	0.92941	0.7754	N	0.19112	0.55	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	D	0.88326	0.2965	10	0.72032	D	0.01	.	19.4101	0.94667	0.0:0.0:1.0:0.0	.	1360	Q92736	RYR2_HUMAN	Y	1360;1358;1344	ENSP00000355533:D1360Y;ENSP00000353174:D1358Y;ENSP00000443798:D1344Y	ENSP00000353174:D1358Y	D	+	1	0	RYR2	235820833	1.000000	0.71417	0.948000	0.38648	0.993000	0.82548	9.166000	0.94766	2.895000	0.99335	0.650000	0.86243	GAC		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	41	1	0	2.35188e-11	0.539581	2.7112e-11	18	41				
GSTT1	2952	broad.mit.edu	37	22	24381723	24381723	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr22:24381723G>A	ENST00000248935.5	-	2	229	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GSTT1_ENST00000439996.2_Intron	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		59	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	TGAAGTCCCCGTCCTTCAAGG	0.562									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																													ENST00000248935.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6						c.(175-177)gaC>gaT		glutathione S-transferase theta 1	Glutathione(DB00143)						98.0	84.0	89.0					22																	24381723		1708	3615	5323	SO:0001819	synonymous_variant	2952	Myelodysplasia and Acute Myeloid Leukemia (AML), Familial	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML	glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity	g.chr22:24381723G>A																												ENST00000248935.5:c.177C>T	22.37:g.24381723G>A						GSTT1_ENST00000439996.2_Intron	p.D59D	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN			2	229	-			59			GST N-terminal.		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Silent	SNP	ENST00000248935.5	37	c.177C>T	CCDS13822.1																																																																																				0.562	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			4	114	0	0	0	0.150653	0	4	114				
MYH10	4628	broad.mit.edu	37	17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr17:8397110C>G	ENST00000269243.4	-	30	4195	c.4057G>C	c.(4057-4059)Gag>Cag	p.E1353Q	MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q|MYH10_ENST00000360416.3_Missense_Mutation_p.E1384Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1353					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4150-4152)Gag>Cag		myosin, heavy chain 10, non-muscle							85.0	77.0	80.0					17																	8397110		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8397110C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4057G>C	17.37:g.8397110C>G	ENSP00000269243:p.Glu1353Gln					MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1353Q	p.E1384Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			32	4288	-			1353					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4150G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496514	0.64186	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.2	4.22	0.49857	Myosin tail (1);	0.051659	0.85682	D	0.000000	D	0.93203	0.7835	M	0.90759	3.145	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.70016	0.967;0.959;0.967	D	0.94653	0.7841	10	0.87932	D	0	.	15.2172	0.73277	0.1418:0.8582:0.0:0.0	.	1362;1384;1353	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1353;1384;1374;1369	ENSP00000269243:E1353Q;ENSP00000353590:E1384Q;ENSP00000379539:E1374Q;ENSP00000369315:E1369Q	ENSP00000269243:E1353Q	E	-	1	0	MYH10	8337835	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	7.609000	0.82925	1.401000	0.46761	-0.181000	0.13052	GAG		0.587	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			3	64	0	0	0	0.150653	0	3	64				
FBXO16	157574	broad.mit.edu	37	8	28304698	28304698	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr8:28304698G>A	ENST00000380254.2	-	7	981	c.833C>T	c.(832-834)gCa>gTa	p.A278V	FBXO16_ENST00000518734.1_Missense_Mutation_p.A266V|RP11-181B11.2_ENST00000518819.1_RNA|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000346498.2_Missense_Mutation_p.A266V	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	278										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CATTGATTGTGCTTTTCTTAG	0.318																																						ENST00000380254.2																			0				large_intestine(2)|ovary(1)	3						c.(832-834)gCa>gTa		F-box protein 16							219.0	206.0	211.0					8																	28304698		2203	4300	6503	SO:0001583	missense	157574							g.chr8:28304698G>A	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.833C>T	8.37:g.28304698G>A	ENSP00000369604:p.Ala278Val					FBXO16_ENST00000518734.1_Missense_Mutation_p.A266V|FBXO16_ENST00000346498.2_Missense_Mutation_p.A266V	p.A278V	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	7	981	-		Ovarian(32;2.06e-05)	278					Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	c.833C>T	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459898	0.63401	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734	T;T;T	0.23950	2.02;1.88;2.02	4.87	4.87	0.63330	.	0.869827	0.09645	U	0.774438	T	0.39809	0.1092	M	0.74881	2.28	0.80722	D	1	P;P;D	0.55172	0.836;0.836;0.97	P;P;P	0.47134	0.453;0.453;0.539	T	0.34403	-0.9830	10	0.54805	T	0.06	-0.5027	13.8522	0.63504	0.0:0.0:1.0:0.0	.	266;266;278	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	V	278;266;266	ENSP00000369604:A278V;ENSP00000341416:A266V;ENSP00000429687:A266V	ENSP00000341416:A266V	A	-	2	0	FBXO16	28360617	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.415000	0.52700	2.408000	0.81797	0.591000	0.81541	GCA		0.318	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		10	127	0	0	0	0.411799	0	10	127				
MYLK4	340156	broad.mit.edu	37	6	2689172	2689172	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:2689172G>A	ENST00000274643.7	-	4	596	c.254C>T	c.(253-255)cCg>cTg	p.P85L	MYLK4_ENST00000268446.5_Missense_Mutation_p.P85L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	85						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AAATGGGGCCGGAGGAGCCGG	0.502																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(253-255)cCg>cTg		myosin light chain kinase family, member 4							119.0	128.0	125.0					6																	2689172		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2689172G>A		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.254C>T	6.37:g.2689172G>A	ENSP00000274643:p.Pro85Leu					MYLK4_ENST00000268446.5_Missense_Mutation_p.P85L	p.P85L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			4	596	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	85					A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.254C>T	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.239084	0.39598	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.68181	0.01;-0.31	5.23	5.23	0.72850	.	0.318740	0.22054	N	0.065265	T	0.52141	0.1716	L	0.52011	1.625	0.47819	D	0.999527	B	0.27679	0.185	B	0.20577	0.03	T	0.58335	-0.7654	10	0.87932	D	0	.	18.1489	0.89668	0.0:0.0:1.0:0.0	.	85	Q86YV6	MYLK4_HUMAN	L	85	ENSP00000268446:P85L;ENSP00000274643:P85L	ENSP00000268446:P85L	P	-	2	0	MYLK4	2634171	0.998000	0.40836	0.995000	0.50966	0.141000	0.21300	6.631000	0.74277	2.610000	0.88304	0.655000	0.94253	CCG		0.502	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		4	148	0	0	0	0.184627	0	4	148				
C6orf62	81688	broad.mit.edu	37	6	24714586	24714586	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:24714586G>C	ENST00000378119.4	-	3	2556	c.389C>G	c.(388-390)tCt>tGt	p.S130C	C6orf62_ENST00000540769.1_Missense_Mutation_p.S72C|C6orf62_ENST00000378102.3_Missense_Mutation_p.S101C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	130						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TTTCCACCTAGAAAACAGGAG	0.343																																						ENST00000378119.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						c.(388-390)tCt>tGt		chromosome 6 open reading frame 62							77.0	79.0	78.0					6																	24714586		2203	4300	6503	SO:0001583	missense	81688					intracellular		g.chr6:24714586G>C	AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.389C>G	6.37:g.24714586G>C	ENSP00000367359:p.Ser130Cys					C6orf62_ENST00000378102.3_Missense_Mutation_p.S101C|C6orf62_ENST00000540769.1_Missense_Mutation_p.S72C	p.S130C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN			3	2556	-			130					Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	c.389C>G	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	G	33	5.205256	0.95033	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.39787	1.06;1.06;1.06	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.51973	-0.8637	10	0.87932	D	0	-15.0205	20.0529	0.97634	0.0:0.0:1.0:0.0	.	130	Q9GZU0	CF062_HUMAN	C	130;72;101	ENSP00000367359:S130C;ENSP00000446225:S72C;ENSP00000367342:S101C	ENSP00000367342:S101C	S	-	2	0	C6orf62	24822565	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.767000	0.98960	2.814000	0.96858	0.591000	0.81541	TCT		0.343	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		15	81	0	0	0	0.539581	0	15	81				
ATM	472	broad.mit.edu	37	11	108164131	108164131	+	Missense_Mutation	SNP	A	A	T	rs368830730		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr11:108164131A>T	ENST00000452508.2	+	32	4892	c.4703A>T	c.(4702-4704)cAt>cTt	p.H1568L	ATM_ENST00000278616.4_Missense_Mutation_p.H1568L			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1568					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTTCCTGACCATGTTGTTTTT	0.308			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4702-4704)cAt>cTt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							105.0	111.0	109.0					11																	108164131		2200	4295	6495	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108164131A>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4703A>T	11.37:g.108164131A>T	ENSP00000388058:p.His1568Leu	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.H1568L	p.H1568L	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	31	5088	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1568					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.4703A>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	8.774	0.926526	0.18056	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01369	4.97;4.97	5.31	3.0	0.34707	Armadillo-type fold (1);	0.319320	0.37136	N	0.002229	T	0.01029	0.0034	L	0.28274	0.84	0.26706	N	0.971072	B	0.02656	0.0	B	0.01281	0.0	T	0.47560	-0.9108	10	0.11485	T	0.65	.	4.6875	0.12764	0.709:0.0:0.1505:0.1405	.	1568	Q13315	ATM_HUMAN	L	1568	ENSP00000278616:H1568L;ENSP00000388058:H1568L	ENSP00000278616:H1568L	H	+	2	0	ATM	107669341	0.135000	0.22499	1.000000	0.80357	0.999000	0.98932	0.707000	0.25704	0.965000	0.38133	0.533000	0.62120	CAT		0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		8	102	0	0	0	0.307466	0	8	102				
LPAR1	1902	broad.mit.edu	37	9	113704388	113704388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr9:113704388G>A	ENST00000374431.3	-	4	489	c.106C>T	c.(106-108)Cga>Tga	p.R36*	LPAR1_ENST00000374430.2_Nonsense_Mutation_p.R36*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.R36*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.R37*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	36					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|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)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TTTCCACTTCGGTTATAAAAG	0.418																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(106-108)Cga>Tga		lysophosphatidic acid receptor 1							99.0	86.0	91.0					9																	113704388		2203	4300	6503	SO:0001587	stop_gained	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704388G>A	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.106C>T	9.37:g.113704388G>A	ENSP00000363553:p.Arg36*					LPAR1_ENST00000358883.4_Nonsense_Mutation_p.R36*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.R36*	p.R36*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	489	-			36					B4DK36|O00656|O00722|P78351	Nonsense_Mutation	SNP	ENST00000374431.3	37	c.106C>T	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	G	37	6.343127	0.97489	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	.	.	.	5.36	3.51	0.40186	.	0.054695	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	9.4556	0.38753	0.0745:0.0:0.7824:0.143	.	.	.	.	X	36;37;36;36;18;37;36	.	ENSP00000351755:R36X	R	-	1	2	LPAR1	112744209	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.242000	0.51384	0.639000	0.30564	0.655000	0.94253	CGA		0.418	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		4	108	0	0	0	0.217242	0	4	108				
CHRNA4	1137	broad.mit.edu	37	20	61981681	61981681	+	Missense_Mutation	SNP	G	G	A	rs267606048		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr20:61981681G>A	ENST00000370263.4	-	5	1303	c.1082C>T	c.(1081-1083)cCg>cTg	p.P361L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	361					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.P361L(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GACCACGGACGGCCGCTTCAT	0.662																																						ENST00000370263.4																			3	Substitution - Missense(3)	p.P361L(3)	prostate(3)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1081-1083)cCg>cTg		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						74.0	55.0	62.0					20																	61981681		2203	4300	6503	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981681G>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1082C>T	20.37:g.61981681G>A	ENSP00000359285:p.Pro361Leu					CHRNA4_ENST00000463705.1_5'UTR	p.P361L	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1303	-	all_cancers(38;1.71e-10)		361					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1082C>T	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825807	0.90955	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.72725	-0.68	4.85	4.85	0.62838	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.946	D	0.85975	0.1479	10	0.87932	D	0	.	18.3259	0.90254	0.0:0.0:1.0:0.0	.	290;361	Q4VAQ5;P43681	.;ACHA4_HUMAN	L	267;361;290	ENSP00000359285:P361L	ENSP00000359280:P267L	P	-	2	0	CHRNA4	61452125	1.000000	0.71417	0.980000	0.43619	0.807000	0.45602	7.719000	0.84751	2.390000	0.81377	0.655000	0.94253	CCG		0.662	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			3	47	0	0	0	0.115264	0	3	47				
EFCAB7	84455	broad.mit.edu	37	1	64022884	64022884	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:64022884G>A	ENST00000371088.4	+	10	1560	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	438	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAAGTGGTGAGAAATGTGATG	0.318																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(1312-1314)gaG>gaA		EF-hand calcium binding domain 7							73.0	83.0	80.0					1																	64022884		2203	4300	6503	SO:0001819	synonymous_variant	84455						calcium ion binding	g.chr1:64022884G>A	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1314G>A	1.37:g.64022884G>A						EFCAB7_ENST00000461039.1_3'UTR	p.E438E	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			10	1560	+			438			EF-hand 3.		Q658P0|Q96B95|Q96JM6	Silent	SNP	ENST00000371088.4	37	c.1314G>A	CCDS30737.1																																																																																				0.318	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		3	37	0	0	0	0.150653	0	3	37				
PACSIN1	29993	broad.mit.edu	37	6	34498308	34498308	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:34498308G>A	ENST00000538621.1	+	8	1226	c.981G>A	c.(979-981)gcG>gcA	p.A327A	PACSIN1_ENST00000374043.2_Silent_p.A285A|PACSIN1_ENST00000244458.2_Silent_p.A327A	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	327					actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGGAGTGGCGCTGACCAATG	0.637																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(979-981)gcG>gcA		protein kinase C and casein kinase substrate in neurons 1							100.0	80.0	87.0					6																	34498308		2203	4300	6503	SO:0001819	synonymous_variant	0				endocytosis		protein kinase activity	g.chr6:34498308G>A	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.981G>A	6.37:g.34498308G>A						PACSIN1_ENST00000374043.2_Silent_p.A285A|PACSIN1_ENST00000244458.2_Silent_p.A327A	p.A327A	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			8	1226	+			327					Q9P2G8	Silent	SNP	ENST00000538621.1	37	c.981G>A	CCDS4793.1																																																																																				0.637	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			3	25	0	0	0	0.115264	0	3	25				
TSKS	60385	broad.mit.edu	37	19	50245231	50245231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr19:50245231G>A	ENST00000246801.3	-	9	1490	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	TSKS_ENST00000358830.3_Nonsense_Mutation_p.R270*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	470					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)		GTCAGTGCTCGGTCCAGCAGC	0.612																																						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.(1408-1410)Cga>Tga		testis-specific serine kinase substrate							96.0	84.0	88.0					19																	50245231		2203	4300	6503	SO:0001587	stop_gained	60385						protein binding	g.chr19:50245231G>A	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.1408C>T	19.37:g.50245231G>A	ENSP00000246801:p.Arg470*					TSKS_ENST00000358830.3_Nonsense_Mutation_p.R270*	p.R470*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	9	1490	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	470					Q8WXJ0	Nonsense_Mutation	SNP	ENST00000246801.3	37	c.1408C>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073331	0.76415	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	.	.	.	4.42	3.38	0.38709	.	0.000000	0.44902	D	0.000416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0288	8.5184	0.33259	0.1068:0.0:0.8932:0.0	.	.	.	.	X	470;270	.	ENSP00000246801:R470X	R	-	1	2	TSKS	54937043	0.959000	0.32827	0.971000	0.41717	0.155000	0.21991	2.774000	0.47694	1.226000	0.43582	-0.265000	0.10407	CGA		0.612	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		3	65	0	0	0	0.150653	0	3	65				
WNT5A	7474	broad.mit.edu	37	3	55508372	55508372	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:55508372C>T	ENST00000474267.1	-	5	1198	c.677G>A	c.(676-678)gGc>gAc	p.G226D	WNT5A_ENST00000497027.1_Missense_Mutation_p.G211D|WNT5A_ENST00000264634.4_Missense_Mutation_p.G226D			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	226					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CACCCTGCGGCCGGCCTCGTT	0.672																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(676-678)gGc>gAc		wingless-type MMTV integration site family, member 5A							19.0	25.0	23.0					3																	55508372		2188	4294	6482	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55508372C>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.677G>A	3.37:g.55508372C>T	ENSP00000417310:p.Gly226Asp					WNT5A_ENST00000497027.1_Missense_Mutation_p.G211D|WNT5A_ENST00000264634.4_Missense_Mutation_p.G226D	p.G226D			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	5	1198	-			226					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.677G>A	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386784	0.95967	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027;ENST00000482079	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98109	1.0419	10	0.87932	D	0	.	17.8575	0.88769	0.0:1.0:0.0:0.0	.	226	P41221	WNT5A_HUMAN	D	226;226;137;211;211	ENSP00000417310:G226D;ENSP00000264634:G226D;ENSP00000420104:G211D;ENSP00000418184:G211D	ENSP00000264634:G226D	G	-	2	0	WNT5A	55483412	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	7.636000	0.83301	2.275000	0.75901	0.557000	0.71058	GGC		0.672	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		7	46	0	0	0	0.335167	0	7	46				
MECOM	2122	broad.mit.edu	37	3	168834358	168834358	+	Silent	SNP	C	C	G	rs199815249	byFrequency	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:168834358C>G	ENST00000464456.1	-	7	1938	c.738G>C	c.(736-738)gcG>gcC	p.A246A	MECOM_ENST00000468789.1_Silent_p.A246A|MECOM_ENST00000460814.1_Silent_p.A246A|MECOM_ENST00000392736.3_Silent_p.A246A|MECOM_ENST00000494292.1_Silent_p.A434A|MECOM_ENST00000433243.2_Silent_p.A247A|MECOM_ENST00000264674.3_Silent_p.A311A|MECOM_ENST00000472280.1_Silent_p.A247A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCCACCTGCCGCAAAATGGT	0.468																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(736-738)gcG>gcC		MDS1 and EVI1 complex locus							357.0	306.0	323.0					3																	168834358		2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168834358C>G	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.738G>C	3.37:g.168834358C>G						MECOM_ENST00000494292.1_Silent_p.A434A|MECOM_ENST00000433243.2_Silent_p.A247A|MECOM_ENST00000472280.1_Silent_p.A247A|MECOM_ENST00000460814.1_Silent_p.A246A|MECOM_ENST00000392736.3_Silent_p.A246A|MECOM_ENST00000468789.1_Silent_p.A246A|MECOM_ENST00000264674.3_Silent_p.A311A	p.A246A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	1938	-			0					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.738G>C	CCDS54669.1																																																																																				0.468	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		12	159	0	0	0	0.411799	0	12	159				
ENOPH1	58478	broad.mit.edu	37	4	83376002	83376002	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr4:83376002C>A	ENST00000273920.3	+	4	785	c.517C>A	c.(517-519)Ctt>Att	p.L173I	ENOPH1_ENST00000509635.1_Missense_Mutation_p.L85I	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GGGAGATATTCTTGAGGTAGG	0.398																																						ENST00000273920.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						c.(517-519)Ctt>Att		enolase-phosphatase 1							225.0	204.0	211.0					4																	83376002		2203	4300	6503	SO:0001583	missense	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83376002C>A		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.517C>A	4.37:g.83376002C>A	ENSP00000273920:p.Leu173Ile					ENOPH1_ENST00000509635.1_Missense_Mutation_p.L85I	p.L173I	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN			4	785	+			173						Missense_Mutation	SNP	ENST00000273920.3	37	c.517C>A	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	c	14.17	2.455797	0.43634	.	.	ENSG00000145293	ENST00000273920;ENST00000456931;ENST00000509635	T;T	0.05139	3.49;3.49	5.74	5.74	0.90152	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	M	0.73430	2.235	0.52501	D	0.999956	P	0.51933	0.949	D	0.63381	0.914	T	0.00031	-1.2280	10	0.37606	T	0.19	-16.0731	13.1315	0.59385	0.0:0.8866:0.0:0.1134	.	173	Q9UHY7	ENOPH_HUMAN	I	173;173;85	ENSP00000273920:L173I;ENSP00000422005:L85I	ENSP00000273920:L173I	L	+	1	0	ENOPH1	83595026	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	2.899000	0.48679	2.881000	0.98747	0.650000	0.86243	CTT		0.398	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		4	176	1	0	0.150653	0.150653	0.158281	4	176				
ACTL6B	51412	broad.mit.edu	37	7	100246363	100246363	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr7:100246363A>T	ENST00000160382.5	-	6	657	c.551T>A	c.(550-552)gTt>gAt	p.V184D		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	184					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTGCTGCAGAACGTAGCCGTC	0.627																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(550-552)gTt>gAt		actin-like 6B							71.0	66.0	68.0					7																	100246363		2203	4300	6503	SO:0001583	missense	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100246363A>T	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.551T>A	7.37:g.100246363A>T	ENSP00000160382:p.Val184Asp						p.V184D	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			6	657	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		184					A4D2D0|O75421	Missense_Mutation	SNP	ENST00000160382.5	37	c.551T>A	CCDS5702.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.346432	0.82022	.	.	ENSG00000077080	ENST00000160382	D	0.95069	-3.6	5.12	5.12	0.69794	.	0.080947	0.48286	D	0.000192	D	0.97523	0.9189	M	0.91140	3.18	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.98266	1.0501	10	0.87932	D	0	.	12.9182	0.58216	1.0:0.0:0.0:0.0	.	184	O94805	ACL6B_HUMAN	D	184	ENSP00000160382:V184D	ENSP00000160382:V184D	V	-	2	0	ACTL6B	100084299	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	7.083000	0.76859	2.148000	0.66965	0.528000	0.53228	GTT		0.627	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		5	86	0	0	0	0.248553	0	5	86				
TSNAXIP1	55815	broad.mit.edu	37	16	67859051	67859051	+	Silent	SNP	G	G	T	rs367742568		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr16:67859051G>T	ENST00000388833.3	+	7	905	c.528G>T	c.(526-528)ctG>ctT	p.L176L	TSNAXIP1_ENST00000561639.1_Silent_p.L230L|TSNAXIP1_ENST00000415766.3_Silent_p.L161L|TSNAXIP1_ENST00000562321.1_3'UTR	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGACCAAACTGAGGAAGAACT	0.607																																						ENST00000388833.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22						c.(526-528)ctG>ctT		translin-associated factor X interacting protein 1							75.0	77.0	77.0					16																	67859051		2047	4189	6236	SO:0001819	synonymous_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67859051G>T	AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.528G>T	16.37:g.67859051G>T						TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000415766.3_Silent_p.L161L|TSNAXIP1_ENST00000561639.1_Silent_p.L230L	p.L176L	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	7	905	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	176						Silent	SNP	ENST00000388833.3	37	c.528G>T	CCDS10846.2																																																																																				0.607	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268876.2	NM_018430		5	72	1	0	0.00116845	0.217242	0.00127607	5	72				
MRPL19	9801	broad.mit.edu	37	2	75879653	75879653	+	Silent	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr2:75879653T>C	ENST00000393909.2	+	4	370	c.345T>C	c.(343-345)agT>agC	p.S115S	MRPL19_ENST00000358788.6_Silent_p.S115S|MRPL19_ENST00000409374.1_Silent_p.S115S	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	115					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						TTGTAGGAAGTATTCTTCGTG	0.383																																						ENST00000393909.2																			0				kidney(1)|large_intestine(1)|lung(6)	8						c.(343-345)agT>agC		mitochondrial ribosomal protein L19							126.0	115.0	118.0					2																	75879653		1830	4076	5906	SO:0001819	synonymous_variant	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75879653T>C	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.345T>C	2.37:g.75879653T>C						MRPL19_ENST00000358788.6_Silent_p.S115S|MRPL19_ENST00000409374.1_Silent_p.S115S	p.S115S	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN			4	370	+			115					Q53TX9|Q96Q52	Silent	SNP	ENST00000393909.2	37	c.345T>C	CCDS1960.2																																																																																				0.383	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		62	61	0	0	0	0.870114	0	62	61				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs62464331		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732									GTF2I repeat domain containing 2 pseudogene 1																		cagagtgatttcggatgaatt	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72658179T>C	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658179T>C								NR_002164.1						0	1732	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		3	71	0	0	0	0.115264	0	3	71				
UBR1	197131	broad.mit.edu	37	15	43242542	43242542	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr15:43242542C>G	ENST00000290650.4	-	46	5104	c.5026G>C	c.(5026-5028)Gtc>Ctc	p.V1676L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1676					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCAACCAGGACCACTCGGCAT	0.403																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(5026-5028)Gtc>Ctc		ubiquitin protein ligase E3 component n-recognin 1							68.0	69.0	69.0					15																	43242542		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43242542C>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.5026G>C	15.37:g.43242542C>G	ENSP00000290650:p.Val1676Leu					UBR1_ENST00000382177.2_3'UTR	p.V1676L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	46	5104	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1676					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.5026G>C	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352137	0.41700	.	.	ENSG00000159459	ENST00000290650	T	0.34667	1.35	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	N	0.02202	-0.64	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.15549	-1.0433	10	0.02654	T	1	-0.8198	19.3691	0.94477	0.0:1.0:0.0:0.0	.	1676	Q8IWV7	UBR1_HUMAN	L	1676	ENSP00000290650:V1676L	ENSP00000290650:V1676L	V	-	1	0	UBR1	41029834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.998000	0.76277	2.822000	0.97130	0.650000	0.86243	GTC		0.403	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		4	94	0	0	0	0.217242	0	4	94				
DNASE2B	58511	broad.mit.edu	37	1	84880355	84880356	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:84880355_84880356insT	ENST00000370665.3	+	6	923_924	c.890_891insT	c.(889-894)tcttatfs	p.Y298fs	DNASE2B_ENST00000370662.3_Frame_Shift_Ins_p.Y90fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	298					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TCACGACACTCTTATTTCAGTT	0.406																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(889-891)ttafs		deoxyribonuclease II beta																																				SO:0001589	frameshift_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84880355_84880356insT	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.892dupT	1.37:g.84880357_84880357dupT	ENSP00000359699:p.Tyr298fs					DNASE2B_ENST00000370662.3_Frame_Shift_Ins_p.L89fs	p.L297fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	6	923_924	+			297					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Frame_Shift_Ins	INS	ENST00000370665.3	37	c.890_891insT	CCDS44167.1																																																																																				0.406	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		18	54						18	54	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152521933	152521933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:152521933delG	ENST00000172853.10	-	42	5299	c.5152delC	c.(5152-5154)cagfs	p.Q1718fs	NEB_ENST00000603639.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.Q1718fs			P20929	NEBU_HUMAN	nebulin	1718					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGGGGTGCTGGCGATACTTC	0.493																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(5152-5154)agfs		nebulin							235.0	231.0	233.0					2																	152521933		2056	4187	6243	SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152521933delG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5152delC	2.37:g.152521933delG	ENSP00000172853:p.Gln1718fs					NEB_ENST00000397345.3_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.Q1718fs	p.Q1718fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	42	5354	-			1718					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	37	c.5152delC																																																																																					0.493	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		21	16						21	16	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160824131	160824132	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:160824131_160824132insT	ENST00000283243.7	-	20	3028_3029	c.2822_2823insA	c.(2821-2823)aagfs	p.K941fs	PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.K941fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	941					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGAGCCAAACCTTTTTTCGCTT	0.391																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(2821-2823)agtfs		phospholipase A2 receptor 1, 180kDa																																				SO:0001589	frameshift_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160824131_160824132insT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2823dupA	2.37:g.160824137_160824137dupT	ENSP00000283243:p.Lys941fs					PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.S941fs	p.S941fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			20	3028_3029	-			941					B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Ins	INS	ENST00000283243.7	37	c.2822_2823insA	CCDS33309.1																																																																																				0.391	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			29	22						29	22	---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42242450	42242450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:42242450delC	ENST00000327628.5	+	12	1731	c.1331delC	c.(1330-1332)accfs	p.T444fs	TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	444	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGCGTCAGCACCCCCCGGTCC	0.592																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1330-1332)acfs		trafficking protein, kinesin binding 1							117.0	110.0	112.0					3																	42242450		2203	4300	6503	SO:0001589	frameshift_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42242450delC		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1331delC	3.37:g.42242450delC	ENSP00000328998:p.Thr444fs					TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs	p.T444fs	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			12	1731	+			444			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Frame_Shift_Del	DEL	ENST00000327628.5	37	c.1331delC	CCDS43072.1																																																																																				0.592	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		7	289						7	289	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149776147	149776149	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:149776147_149776149delAAG	ENST00000504761.2	+	24	4084_4086	c.4084_4086delAAG	c.(4084-4086)aagdel	p.K1366del	TCOF1_ENST00000451292.1_In_Frame_Del_p.K1403del|TCOF1_ENST00000323668.7_In_Frame_Del_p.K1289del|TCOF1_ENST00000513346.1_In_Frame_Del_p.K1366del|TCOF1_ENST00000445265.2_In_Frame_Del_p.K1290del|TCOF1_ENST00000377797.3_In_Frame_Del_p.K1367del|TCOF1_ENST00000439160.2_In_Frame_Del_p.K1329del			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1366	Poly-Lys.				skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.K1362delK(1)|p.K1285delK(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGGAGCAAGAAGAAGAAGA	0.601																																						ENST00000451292.1																			2	Deletion - In frame(2)	p.K1362delK(1)|p.K1285delK(1)	breast(2)	NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(4195-4197)del		Treacher Collins-Franceschetti syndrome 1			,,,,	142,4018		6,130,1944					,,,,	3.8	1.0			10	321,7729		16,289,3720	no	coding,coding,coding,coding,coding	TCOF1	NM_001195141.1,NM_001135245.1,NM_001135244.1,NM_001135243.1,NM_000356.3	,,,,	22,419,5664	A1A1,A1R,RR		3.9876,3.4135,3.792	,,,,	,,,,		463,11747				SO:0001651	inframe_deletion	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149776147_149776149delAAG		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.4084_4086delAAG	5.37:g.149776156_149776158delAAG	ENSP00000421655:p.Lys1366del					TCOF1_ENST00000323668.7_In_Frame_Del_p.K1289del|TCOF1_ENST00000439160.2_In_Frame_Del_p.K1329del|TCOF1_ENST00000445265.2_In_Frame_Del_p.K1290del|TCOF1_ENST00000513346.1_In_Frame_Del_p.K1366del|TCOF1_ENST00000377797.3_In_Frame_Del_p.K1367del|TCOF1_ENST00000504761.2_In_Frame_Del_p.K1366del	p.K1403del			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		25	4303_4305	+		all_hematologic(541;0.224)	1366					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	In_Frame_Del	DEL	ENST00000504761.2	37	c.4195_4197delAAG	CCDS54936.1																																																																																				0.601	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		3	5						3	5	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38875871	38875872	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:38875871_38875872insA	ENST00000359357.3	+	62	9091_9092	c.8837_8838insA	c.(8836-8841)ttacatfs	p.H2947fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.H3164fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.H2911fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2947	AAA 4. {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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAAGAACTTACATGTTGTTC	0.356																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(8836-8838)tcafs		dynein, axonemal, heavy chain 8																																				SO:0001589	frameshift_variant	1769							g.chr6:38875871_38875872insA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8838dupA	6.37:g.38875872_38875872dupA	ENSP00000352312:p.His2947fs					DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.S2910fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.S3163fs	p.S2946fs							62	9091_9092	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Ins	INS	ENST00000359357.3	37	c.8837_8838insA																																																																																					0.356	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		7	39						7	39	---	---	---	---
MARCKS	4082	broad.mit.edu	37	6	114181209	114181210	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:114181209_114181210insA	ENST00000368635.4	+	2	834_835	c.453_454insA	c.(454-456)aaafs	p.K152fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	152	Calmodulin-binding (PSD).				energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		ACGAGACCCCGAAAAAAAAAAA	0.614																																						ENST00000368635.4																			1	Deletion - Frameshift(1)	p.K155fs*12(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(451-456)ccaaaafs		myristoylated alanine-rich protein kinase C substrate																																				SO:0001589	frameshift_variant	4082				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	g.chr6:114181209_114181210insA	M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.464dupA	6.37:g.114181220_114181220dupA	ENSP00000357624:p.Lys152fs						p.PK151fs	NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)	2	834_835	+		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)	151					E1P560|Q2LA83|Q5TDB7	Frame_Shift_Ins	INS	ENST00000368635.4	37	c.453_454insA	CCDS5101.1																																																																																				0.614	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1	NM_002356		8	22						8	22	---	---	---	---
PPP1R17	10842	broad.mit.edu	37	7	31735178	31735179	+	Frame_Shift_Ins	INS	-	-	A	rs546054902		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:31735178_31735179insA	ENST00000342032.3	+	3	806_807	c.178_179insA	c.(178-180)caafs	p.Q60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	60					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										TGAGTCAGACCAAAAAAAACCA	0.436																																						ENST00000342032.3																			0											c.(178-180)aaafs		protein phosphatase 1, regulatory subunit 17																																				SO:0001589	frameshift_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31735178_31735179insA	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.186dupA	7.37:g.31735186_31735186dupA	ENSP00000340125:p.Gln60fs					PPP1R17_ENST00000409146.3_Intron	p.K60fs	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			3	806_807	+			60					B4DE58|Q9UDQ0	Frame_Shift_Ins	INS	ENST00000342032.3	37	c.178_179insA	CCDS5436.1																																																																																				0.436	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		7	335						7	335	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2807750	2807753	+	Splice_Site	DEL	TACA	TACA	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr8:2807750_2807753delTACA	ENST00000520002.1	-	68	10872_10873	c.10317_10318delTGTA	c.(10315-10320)tatgta>tata	p.V3440fs	CSMD1_ENST00000602723.1_Splice_Site_p.V3263fs|CSMD1_ENST00000400186.3_Splice_Site_p.V3263fs|CSMD1_ENST00000602557.1_Splice_Site_p.V3440fs|CSMD1_ENST00000542608.1_Splice_Site_p.V3262fs|CSMD1_ENST00000537824.1_Splice_Site_p.V3439fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3440						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACATGTACTTACATAACCATCTA	0.441																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.e68+1		CUB and Sushi multiple domains 1																																				SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:2807750_2807753delTACA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10317+1TGTA>-	8.37:g.2807750_2807753delTACA						CSMD1_ENST00000602723.1_Splice_Site_p.Y3262_splice|CSMD1_ENST00000400186.3_Splice_Site_p.Y3262_splice|CSMD1_ENST00000602557.1_Splice_Site_p.Y3439_splice|CSMD1_ENST00000542608.1_Splice_Site_p.Y3261_splice|CSMD1_ENST00000537824.1_Splice_Site_p.Y3438_splice	p.Y3439_splice			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	68	10872_10873	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3439					Q0H0J5|Q96QU9|Q96RM4	Splice_Site	DEL	ENST00000520002.1	37	c.10317_splice																																																																																					0.441	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Frame_Shift_Del	11	151						11	151	---	---	---	---
POU5F1B	5462	broad.mit.edu	37	8	128428147	128428147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr8:128428147delG	ENST00000465342.2	+	2	1193	c.36delG	c.(34-36)tcgfs	p.S12fs	POU5F1B_ENST00000391675.1_Frame_Shift_Del_p.S12fs|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						TCGCCTTCTCGCCCCCTCCAG	0.632																																						ENST00000465342.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(34-36)tcfs		POU class 5 homeobox 1B							2.0	3.0	3.0					8																	128428147		467	1254	1721	SO:0001589	frameshift_variant	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428147delG	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.36delG	8.37:g.128428147delG	ENSP00000419298:p.Ser12fs					CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Frame_Shift_Del_p.S12fs|CASC8_ENST00000502082.1_RNA	p.S12fs			Q06416	P5F1B_HUMAN			2	1193	+			12					D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Frame_Shift_Del	DEL	ENST00000465342.2	37	c.36delG	CCDS55274.1																																																																																				0.632	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		2	4						2	4	---	---	---	---
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.G88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589																																						ENST00000341156.4																			1	Deletion - Frameshift(1)	p.G88fs*24(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(262-264)gctfs		beta-1,4-N-acetyl-galactosaminyl transferase 1				32,4228		0,32,2098						1.8	0.0			83	25,8229		0,25,4102	no	frameshift	B4GALNT1	NM_001478.3		0,57,6200	A1A1,A1R,RR		0.3029,0.7512,0.4555				57,12457				SO:0001589	frameshift_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58025102_58025103insC	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.264dupG	12.37:g.58025110_58025110dupC	ENSP00000341562:p.Gly88fs					B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs	p.A88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		3	847_848	-	Melanoma(17;0.122)		88					B4DE26|Q8N636	Frame_Shift_Ins	INS	ENST00000341156.4	37	c.263_264insG	CCDS8950.1																																																																																				0.589	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		8	148						8	148	---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21562482	21562483	+	In_Frame_Ins	INS	-	-	GGGGCG	rs56252009|rs550642106	byFrequency	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr13:21562482_21562483insGGGGCG	ENST00000382592.4	-	4	1841_1842	c.1436_1437insCGCCCC	c.(1435-1437)ccg>ccCGCCCCg	p.479_479P>PAP	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_In_Frame_Ins_p.479_479P>PAP	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCTCCGCAgccggggcgggggc	0.787														1274	0.254393	0.1566	0.3429	5008	,	,		6446	0.2133		0.338	False		,,,				2504	0.2802					ENST00000382592.4																			3	Deletion - In frame(2)|Insertion - In frame(1)	p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1)	breast(2)|pancreas(1)	breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1435-1437)cgc>cCGCCCCgc		large tumor suppressor kinase 2				22,194		10,2,96						-10.2	0.0		dbSNP_119	2	119,543		56,7,268	no	coding	LATS2	NM_014572.2		66,9,364	A1A1,A1R,RR		17.9758,10.1852,16.0592				141,737				SO:0001652	inframe_insertion	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562482_21562483insGGGGCG	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1431_1436dupCGCCCC	13.37:g.21562483_21562488dupGGGGCG	ENSP00000372035:p.AlaPro479dup					LATS2_ENST00000542899.1_In_Frame_Ins_p.478_479insPP	p.478_479insPP	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	1841_1842	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	478						In_Frame_Ins	INS	ENST00000382592.4	37	c.1436_1437insCGCCCC	CCDS9294.1																																																																																				0.787	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			6	5						6	5	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			4	7						4	7	---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85525510	85525510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:85525510delG	ENST00000310298.4	+	2	369	c.117delG	c.(115-117)acgfs	p.T39fs	PDE8A_ENST00000394553.1_Frame_Shift_Del_p.T39fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.T39fs|PDE8A_ENST00000557957.1_Intron			O60658	PDE8A_HUMAN	phosphodiesterase 8A	39					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	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)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GCCAGAAGACGGCCGCCTTGC	0.766																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(115-117)acfs		phosphodiesterase 8A							2.0	3.0	2.0					15																	85525510		775	1874	2649	SO:0001589	frameshift_variant	5151				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.chr15:85525510delG	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.117delG	15.37:g.85525510delG	ENSP00000311453:p.Thr39fs					PDE8A_ENST00000339708.5_Frame_Shift_Del_p.T39fs|PDE8A_ENST00000557957.1_Intron|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.T39fs	p.T39fs			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		2	369	+	Colorectal(223;0.227)		39					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Frame_Shift_Del	DEL	ENST00000310298.4	37	c.117delG	CCDS10336.1																																																																																				0.766	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		2	4						2	4	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2165391	2165391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:2165391delG	ENST00000262304.4	-	10	2293	c.2085delC	c.(2083-2085)cccfs	p.P695fs	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Frame_Shift_Del_p.P695fs	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	695					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGTACTGCGCGGGGGGCCCCG	0.677																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72	GRCh37	CD010642	PKD1	D		c.(2083-2085)ccfs		polycystic kidney disease 1 (autosomal dominant)							3.0	4.0	4.0					16																	2165391		1587	3415	5002	SO:0001589	frameshift_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2165391delG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2085delC	16.37:g.2165391delG	ENSP00000262304:p.Pro695fs					PKD1_ENST00000423118.1_Frame_Shift_Del_p.P695fs	p.P695fs	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			10	2293	-			695					Q15140|Q15141	Frame_Shift_Del	DEL	ENST00000262304.4	37	c.2085delC	CCDS32369.1																																																																																				0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			2	4						2	4	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350702	50350704	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chrX:50350702_50350704delTCT	ENST00000289292.7	-	6	3721_3723	c.3438_3440delAGA	c.(3436-3441)gaagag>gag	p.1146_1147EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1030_1031EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1146_1147EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1146	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcctcctcctcttcctcttcct	0.557																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3436-3441)gag>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350702_50350704delTCT	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3438_3440delAGA	X.37:g.50350702_50350704delTCT	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1150del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1034del	p.EE1150del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3463_3465	-	Ovarian(276;0.236)		1150			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3438_3440delAGA	CCDS35277.1																																																																																				0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		2	4						2	4	---	---	---	---
DNASE2B	58511	broad.mit.edu	37	1	84880355	84880356	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:84880355_84880356insT	ENST00000370665.3	+	6	923_924	c.890_891insT	c.(889-894)tcttatfs	p.Y298fs	DNASE2B_ENST00000370662.3_Frame_Shift_Ins_p.Y90fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	298					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TCACGACACTCTTATTTCAGTT	0.406																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(889-891)ttafs		deoxyribonuclease II beta																																				SO:0001589	frameshift_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84880355_84880356insT	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.892dupT	1.37:g.84880357_84880357dupT	ENSP00000359699:p.Tyr298fs					DNASE2B_ENST00000370662.3_Frame_Shift_Ins_p.L89fs	p.L297fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	6	923_924	+			297					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Frame_Shift_Ins	INS	ENST00000370665.3	37	c.890_891insT	CCDS44167.1																																																																																				0.406	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		18	54						18	54	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152521933	152521933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr2:152521933delG	ENST00000172853.10	-	42	5299	c.5152delC	c.(5152-5154)cagfs	p.Q1718fs	NEB_ENST00000603639.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.Q1718fs			P20929	NEBU_HUMAN	nebulin	1718					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGGGGTGCTGGCGATACTTC	0.493																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(5152-5154)agfs		nebulin							235.0	231.0	233.0					2																	152521933		2056	4187	6243	SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152521933delG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5152delC	2.37:g.152521933delG	ENSP00000172853:p.Gln1718fs					NEB_ENST00000427231.2_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs	p.Q1718fs	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	42	5354	-			1718					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	37	c.5152delC																																																																																					0.493	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		21	16						21	16	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160824131	160824132	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr2:160824131_160824132insT	ENST00000283243.7	-	20	3028_3029	c.2822_2823insA	c.(2821-2823)aagfs	p.K941fs	PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.K941fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	941					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGAGCCAAACCTTTTTTCGCTT	0.391																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(2821-2823)agtfs		phospholipase A2 receptor 1, 180kDa																																				SO:0001589	frameshift_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160824131_160824132insT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2823dupA	2.37:g.160824137_160824137dupT	ENSP00000283243:p.Lys941fs					PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.S941fs	p.S941fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			20	3028_3029	-			941					B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Ins	INS	ENST00000283243.7	37	c.2822_2823insA	CCDS33309.1																																																																																				0.391	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			29	22						29	22	---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42242450	42242450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr3:42242450delC	ENST00000327628.5	+	12	1731	c.1331delC	c.(1330-1332)accfs	p.T444fs	TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	444	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGCGTCAGCACCCCCCGGTCC	0.592																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1330-1332)acfs		trafficking protein, kinesin binding 1							117.0	110.0	112.0					3																	42242450		2203	4300	6503	SO:0001589	frameshift_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42242450delC		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1331delC	3.37:g.42242450delC	ENSP00000328998:p.Thr444fs					TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs	p.T444fs	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			12	1731	+			444			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Frame_Shift_Del	DEL	ENST00000327628.5	37	c.1331delC	CCDS43072.1																																																																																				0.592	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		7	289						7	289	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149776147	149776149	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr5:149776147_149776149delAAG	ENST00000504761.2	+	24	4084_4086	c.4084_4086delAAG	c.(4084-4086)aagdel	p.K1366del	TCOF1_ENST00000451292.1_In_Frame_Del_p.K1403del|TCOF1_ENST00000323668.7_In_Frame_Del_p.K1289del|TCOF1_ENST00000513346.1_In_Frame_Del_p.K1366del|TCOF1_ENST00000445265.2_In_Frame_Del_p.K1290del|TCOF1_ENST00000377797.3_In_Frame_Del_p.K1367del|TCOF1_ENST00000439160.2_In_Frame_Del_p.K1329del			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1366	Poly-Lys.				skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.K1362delK(1)|p.K1285delK(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGGAGCAAGAAGAAGAAGA	0.601																																						ENST00000451292.1																			2	Deletion - In frame(2)	p.K1362delK(1)|p.K1285delK(1)	breast(2)	NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(4195-4197)del		Treacher Collins-Franceschetti syndrome 1			,,,,	142,4018		6,130,1944					,,,,	3.8	1.0			10	321,7729		16,289,3720	no	coding,coding,coding,coding,coding	TCOF1	NM_001195141.1,NM_001135245.1,NM_001135244.1,NM_001135243.1,NM_000356.3	,,,,	22,419,5664	A1A1,A1R,RR		3.9876,3.4135,3.792	,,,,	,,,,		463,11747				SO:0001651	inframe_deletion	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149776147_149776149delAAG		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.4084_4086delAAG	5.37:g.149776156_149776158delAAG	ENSP00000421655:p.Lys1366del					TCOF1_ENST00000377797.3_In_Frame_Del_p.K1367del|TCOF1_ENST00000439160.2_In_Frame_Del_p.K1329del|TCOF1_ENST00000513346.1_In_Frame_Del_p.K1366del|TCOF1_ENST00000504761.2_In_Frame_Del_p.K1366del|TCOF1_ENST00000323668.7_In_Frame_Del_p.K1289del|TCOF1_ENST00000445265.2_In_Frame_Del_p.K1290del	p.K1403del			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		25	4303_4305	+		all_hematologic(541;0.224)	1366					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	In_Frame_Del	DEL	ENST00000504761.2	37	c.4195_4197delAAG	CCDS54936.1																																																																																				0.601	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		3	5						3	5	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38875871	38875872	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:38875871_38875872insA	ENST00000359357.3	+	62	9091_9092	c.8837_8838insA	c.(8836-8841)ttacatfs	p.H2947fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.H3164fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.H2911fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2947	AAA 4. {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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAAGAACTTACATGTTGTTC	0.356																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(8836-8838)tcafs		dynein, axonemal, heavy chain 8																																				SO:0001589	frameshift_variant	1769							g.chr6:38875871_38875872insA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8838dupA	6.37:g.38875872_38875872dupA	ENSP00000352312:p.His2947fs					DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.S2910fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.S3163fs	p.S2946fs							62	9091_9092	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Ins	INS	ENST00000359357.3	37	c.8837_8838insA																																																																																					0.356	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		7	39						7	39	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2807750	2807753	+	Splice_Site	DEL	TACA	TACA	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr8:2807750_2807753delTACA	ENST00000520002.1	-	68	10872_10873	c.10317_10318delTGTA	c.(10315-10320)tatgta>tata	p.V3440fs	CSMD1_ENST00000602723.1_Splice_Site_p.V3263fs|CSMD1_ENST00000400186.3_Splice_Site_p.V3263fs|CSMD1_ENST00000602557.1_Splice_Site_p.V3440fs|CSMD1_ENST00000542608.1_Splice_Site_p.V3262fs|CSMD1_ENST00000537824.1_Splice_Site_p.V3439fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3440						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACATGTACTTACATAACCATCTA	0.441																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.e68+1		CUB and Sushi multiple domains 1																																				SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:2807750_2807753delTACA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10317+1TGTA>-	8.37:g.2807750_2807753delTACA						CSMD1_ENST00000542608.1_Splice_Site_p.Y3261_splice|CSMD1_ENST00000537824.1_Splice_Site_p.Y3438_splice|CSMD1_ENST00000400186.3_Splice_Site_p.Y3262_splice|CSMD1_ENST00000602723.1_Splice_Site_p.Y3262_splice|CSMD1_ENST00000602557.1_Splice_Site_p.Y3439_splice	p.Y3439_splice			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	68	10872_10873	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3439					Q0H0J5|Q96QU9|Q96RM4	Splice_Site	DEL	ENST00000520002.1	37	c.10317_splice																																																																																					0.441	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Frame_Shift_Del	11	151						11	151	---	---	---	---
POU5F1B	5462	broad.mit.edu	37	8	128428147	128428147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr8:128428147delG	ENST00000465342.2	+	2	1193	c.36delG	c.(34-36)tcgfs	p.S12fs	POU5F1B_ENST00000391675.1_Frame_Shift_Del_p.S12fs|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						TCGCCTTCTCGCCCCCTCCAG	0.632																																						ENST00000465342.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(34-36)tcfs		POU class 5 homeobox 1B							2.0	3.0	3.0					8																	128428147		467	1254	1721	SO:0001589	frameshift_variant	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428147delG	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.36delG	8.37:g.128428147delG	ENSP00000419298:p.Ser12fs					CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Frame_Shift_Del_p.S12fs	p.S12fs			Q06416	P5F1B_HUMAN			2	1193	+			12					D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Frame_Shift_Del	DEL	ENST00000465342.2	37	c.36delG	CCDS55274.1																																																																																				0.632	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		2	4						2	4	---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85525510	85525510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr15:85525510delG	ENST00000310298.4	+	2	369	c.117delG	c.(115-117)acgfs	p.T39fs	PDE8A_ENST00000394553.1_Frame_Shift_Del_p.T39fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.T39fs|PDE8A_ENST00000557957.1_Intron			O60658	PDE8A_HUMAN	phosphodiesterase 8A	39					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	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)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GCCAGAAGACGGCCGCCTTGC	0.766																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(115-117)acfs		phosphodiesterase 8A							2.0	3.0	2.0					15																	85525510		775	1874	2649	SO:0001589	frameshift_variant	5151				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.chr15:85525510delG	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.117delG	15.37:g.85525510delG	ENSP00000311453:p.Thr39fs					PDE8A_ENST00000339708.5_Frame_Shift_Del_p.T39fs|PDE8A_ENST00000557957.1_Intron|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.T39fs	p.T39fs			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		2	369	+	Colorectal(223;0.227)		39					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Frame_Shift_Del	DEL	ENST00000310298.4	37	c.117delG	CCDS10336.1																																																																																				0.766	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		2	4						2	4	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		3	5						3	5	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2165391	2165391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr16:2165391delG	ENST00000262304.4	-	10	2293	c.2085delC	c.(2083-2085)cccfs	p.P695fs	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Frame_Shift_Del_p.P695fs	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	695					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGTACTGCGCGGGGGGCCCCG	0.677																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72	GRCh37	CD010642	PKD1	D		c.(2083-2085)ccfs		polycystic kidney disease 1 (autosomal dominant)							3.0	4.0	4.0					16																	2165391		1587	3415	5002	SO:0001589	frameshift_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2165391delG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2085delC	16.37:g.2165391delG	ENSP00000262304:p.Pro695fs					PKD1_ENST00000423118.1_Frame_Shift_Del_p.P695fs	p.P695fs	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			10	2293	-			695					Q15140|Q15141	Frame_Shift_Del	DEL	ENST00000262304.4	37	c.2085delC	CCDS32369.1																																																																																				0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			2	4						2	4	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350702	50350704	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chrX:50350702_50350704delTCT	ENST00000289292.7	-	6	3721_3723	c.3438_3440delAGA	c.(3436-3441)gaagag>gag	p.1146_1147EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1030_1031EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1146_1147EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1146	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcctcctcctcttcctcttcct	0.557																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3436-3441)gag>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350702_50350704delTCT	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3438_3440delAGA	X.37:g.50350702_50350704delTCT	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1150del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1034del	p.EE1150del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3463_3465	-	Ovarian(276;0.236)		1150			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3438_3440delAGA	CCDS35277.1																																																																																				0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		2	4						2	4	---	---	---	---
