#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_ACHILLES_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
PADI2	11240	broad.mit.edu	37	1	17405776	17405776	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:17405776G>A	ENST00000375486.4	-	11	1356	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	PADI2_ENST00000444885.2_Silent_p.I315I|PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000375481.1_Silent_p.I431I	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	431					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.I431I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGCTGCTCCCGATGAGGATGC	0.572																																							uc001baf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1291-1293)ATC>ATT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						54.0	55.0	55.0					1																	17405776		2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17405776G>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1293C>T	1.37:g.17405776G>A						PADI2_uc010ocm.1_Silent_p.I315I|PADI2_uc001bag.1_Silent_p.I431I	p.I431I	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	11	1375	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	431					Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	c.1293C>T	CCDS177.1																																																																																				0.572	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			4	55	0	0	0	0.009096	0	4	55				
CSF3R	1441	broad.mit.edu	37	1	36937240	36937240	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:36937240G>A	ENST00000373106.1	-	10	1626	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	CSF3R_ENST00000361632.4_Missense_Mutation_p.P360L|CSF3R_ENST00000373103.1_Missense_Mutation_p.P360L|CSF3R_ENST00000418048.2_Missense_Mutation_p.P360L|CSF3R_ENST00000331941.5_Missense_Mutation_p.P360L|CSF3R_ENST00000440588.2_Missense_Mutation_p.P360L|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.P360L|CSF3R_ENST00000373104.1_Missense_Mutation_p.P360L	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	360	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.P360L(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTCCTCCAGGGGCACTGGCTG	0.582																																							uc001caw.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(1078-1080)CCC>CTC		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						58.0	61.0	60.0					1																	36937240		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36937240G>A	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1079C>T	1.37:g.36937240G>A	ENSP00000362198:p.Pro360Leu					CSF3R_uc001cat.1_5'Flank|CSF3R_uc009vvc.1_5'UTR|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.P360L|CSF3R_uc001cax.1_Missense_Mutation_p.P360L|CSF3R_uc001cay.1_Missense_Mutation_p.P360L	p.P360L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			10	1257	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	360			Extracellular (Potential).|Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000373106.1	37	c.1079C>T	CCDS413.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601880	0.28534	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.2	0.918	0.19386	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.422428	0.25714	N	0.028799	T	0.17023	0.0409	M	0.68952	2.095	0.09310	N	1	B;B;B;B	0.26120	0.142;0.091;0.013;0.051	B;B;B;B	0.22386	0.014;0.039;0.018;0.015	T	0.16453	-1.0402	10	0.28530	T	0.3	-5.5992	3.7515	0.08568	0.1854:0.0:0.4774:0.3372	.	360;360;360;360	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	L	360	ENSP00000362198:P360L;ENSP00000362196:P360L;ENSP00000362195:P360L;ENSP00000355406:P360L;ENSP00000332180:P360L;ENSP00000401588:P360L;ENSP00000345013:P360L;ENSP00000397568:P360L	ENSP00000332180:P360L	P	-	2	0	CSF3R	36709827	0.662000	0.27439	0.318000	0.25279	0.963000	0.63663	0.731000	0.26058	0.197000	0.20387	0.561000	0.74099	CCC		0.582	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		7	101	0	0	0	0.00308	0	7	101				
GRIK3	2899	broad.mit.edu	37	1	37271784	37271784	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:37271784G>A	ENST00000373091.3	-	14	2251	c.2235C>T	c.(2233-2235)taC>taT	p.Y745Y	GRIK3_ENST00000373093.4_Silent_p.Y745Y	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	745					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.Y745Y(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TCTGCGTGACGTACTCGATGG	0.642																																							uc001caz.2		NA																	2	Substitution - coding silent(2)		ovary(1)|lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(2233-2235)TAC>TAT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						195.0	138.0	157.0					1																	37271784		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37271784G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2235C>T	1.37:g.37271784G>A						GRIK3_uc001cba.1_Silent_p.Y745Y	p.Y745Y	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			14	2370	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	745			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.2235C>T	CCDS416.1																																																																																				0.642	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		10	81	0	0	0	0.013537	0	10	81				
GRIK3	2899	broad.mit.edu	37	1	37324731	37324731	+	Missense_Mutation	SNP	C	C	T	rs569112734		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:37324731C>T	ENST00000373091.3	-	7	1098	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	361					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R361H(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTTCATGAAGCGGCCGCCAAA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18567	0.0		0.0	False		,,,				2504	0.001						uc001caz.2		NA																	2	Substitution - Missense(2)		prostate(1)|lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(1081-1083)CGC>CAC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						77.0	81.0	80.0					1																	37324731		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37324731C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1082G>A	1.37:g.37324731C>T	ENSP00000362183:p.Arg361His					GRIK3_uc001cba.1_Missense_Mutation_p.R361H	p.R361H	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			7	1217	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	361			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1082G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578993	0.96565	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83163	-1.69;-1.69	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.71581	2.175	0.80722	D	1	D;D	0.55605	0.972;0.963	P;P	0.55545	0.778;0.703	D	0.88965	0.3396	10	0.54805	T	0.06	.	19.7849	0.96432	0.0:1.0:0.0:0.0	.	361;361	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	361	ENSP00000362183:R361H;ENSP00000362185:R361H	ENSP00000362183:R361H	R	-	2	0	GRIK3	37097318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.785000	0.68998	2.671000	0.90904	0.650000	0.86243	CGC		0.627	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		17	58	0	0	0	0.006122	0	17	58				
TIE1	7075	broad.mit.edu	37	1	43775179	43775179	+	Missense_Mutation	SNP	C	C	T	rs376549515		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:43775179C>T	ENST00000372476.3	+	9	1388	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	TIE1_ENST00000433781.2_Missense_Mutation_p.R82W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	437					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R437W(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAAGACAGCCGGCGCTTCAA	0.582																																							uc001ciu.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1309-1311)CGG>TGG		tyrosine kinase with immunoglobulin-like and							86.0	76.0	79.0					1																	43775179		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43775179C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1309C>T	1.37:g.43775179C>T	ENSP00000361554:p.Arg437Trp					TIE1_uc010okd.1_Missense_Mutation_p.R437W|TIE1_uc010oke.1_Missense_Mutation_p.R392W|TIE1_uc009vwq.2_Missense_Mutation_p.R393W|TIE1_uc010okf.1_Missense_Mutation_p.R82W|TIE1_uc010okg.1_Missense_Mutation_p.R82W|TIE1_uc010okc.1_3'UTR	p.R437W	NM_005424	NP_005415	P35590	TIE1_HUMAN			9	1388	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	437			Extracellular (Potential).		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1309C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576534	0.86645	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.42131	2.57;0.98	4.93	3.98	0.46160	Immunoglobulin-like fold (1);	0.000000	0.34676	N	0.003770	T	0.56514	0.1990	M	0.70595	2.14	0.49582	D	0.999804	D;D;D;D;D	0.71674	0.98;0.984;0.998;0.966;0.998	B;P;P;B;P	0.59643	0.443;0.727;0.861;0.258;0.837	T	0.61515	-0.7047	10	0.87932	D	0	.	11.1083	0.48216	0.1431:0.7189:0.1381:0.0	.	82;392;437;82;437	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	W	437;82	ENSP00000361554:R437W;ENSP00000411728:R82W	ENSP00000361554:R437W	R	+	1	2	TIE1	43547766	0.696000	0.27757	0.997000	0.53966	0.994000	0.84299	0.311000	0.19380	2.288000	0.76882	0.563000	0.77884	CGG		0.582	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		8	33	0	0	0	0.004482	0	8	33				
USP24	23358	broad.mit.edu	37	1	55604671	55604671	+	Silent	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:55604671A>T	ENST00000294383.6	-	25	2762	c.2763T>A	c.(2761-2763)ctT>ctA	p.L921L	USP24_ENST00000407756.1_Silent_p.L761L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	921					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.L921L(1)|p.L838L(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CAATTATTACAAGTTTAGTAG	0.343																																							uc001cyg.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|kidney(6)|breast(1)	13						c.(2281-2283)CTT>CTA		ubiquitin specific protease 24							55.0	52.0	53.0					1																	55604671		1826	4083	5909	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55604671A>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2763T>A	1.37:g.55604671A>T							p.L761L	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			22	2283	-			921					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.2283T>A	CCDS44154.2																																																																																				0.343	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			9	25	0	0	0	0.008291	0	9	25				
VAV3	10451	broad.mit.edu	37	1	108185292	108185292	+	Silent	SNP	G	G	C	rs142820345		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:108185292G>C	ENST00000370056.4	-	20	2137	c.1863C>G	c.(1861-1863)gcC>gcG	p.A621A	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.A621A|VAV3_ENST00000415432.2_Silent_p.A61A|VAV3_ENST00000544443.1_Silent_p.A25A	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	621	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.A621A(1)|p.A61A(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CGGTATCCCCGGCCTGGAGCT	0.507																																							uc001dvk.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(2)|breast(2)	9						c.(1861-1863)GCC>GCG		vav 3 guanine nucleotide exchange factor isoform							110.0	107.0	108.0					1																	108185292		2203	4300	6503	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108185292G>C	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1863C>G	1.37:g.108185292G>C						VAV3_uc010ouu.1_Silent_p.A25A|VAV3_uc001dvj.1_Silent_p.A61A|VAV3_uc010ouv.1_Silent_p.A25A|VAV3_uc010ouw.1_Silent_p.A621A	p.A621A	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	20	1917	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	621			SH3 1.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.1863C>G	CCDS785.1	.	.	.	.	.	.	.	.	.	.	G	3.416	-0.119228	0.06838	.	.	ENSG00000134215	ENST00000529809	.	.	.	5.37	-2.82	0.05787	.	.	.	.	.	T	0.37046	0.0989	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50448	-0.8827	5	0.87932	D	0	.	1.503	0.02480	0.1312:0.2058:0.2979:0.365	.	.	.	.	R	149	.	ENSP00000434944:P46R	P	-	2	0	VAV3	107986815	0.718000	0.27976	0.952000	0.39060	0.308000	0.27856	-0.615000	0.05597	-0.412000	0.07519	-0.410000	0.06199	CCG		0.507	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		44	71	0	0	0	0.01441	0	44	71				
TMEM167B	56900	broad.mit.edu	37	1	109635561	109635561	+	Silent	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:109635561C>G	ENST00000338272.8	+	2	1130	c.60C>G	c.(58-60)acC>acG	p.T20T	RP5-1065J22.8_ENST00000608574.1_RNA|TMEM167B_ENST00000473828.1_3'UTR	NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B	20						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.T20T(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						TTGTTTGCACCTGTGCCTACT	0.448																																							uc001dwn.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)ACC>ACG		transmembrane protein 167B precursor							328.0	344.0	339.0					1																	109635561		2203	4300	6503	SO:0001819	synonymous_variant	56900					Golgi membrane|integral to membrane		g.chr1:109635561C>G		CCDS30789.1	1p13.3	2008-06-06	2008-06-06	2008-06-06	ENSG00000215717	ENSG00000215717			30187	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 119"""	C1orf119		12477932	Standard	NM_020141		Approved	AD-020, FLJ90710	uc001dwn.3	Q9NRX6	OTTHUMG00000042364	ENST00000338272.8:c.60C>G	1.37:g.109635561C>G						TMEM167B_uc009weu.2_Intron	p.T20T	NM_020141	NP_064526	Q9NRX6	KISHB_HUMAN			2	152	+			20					B2RUU9	Silent	SNP	ENST00000338272.8	37	c.60C>G	CCDS30789.1																																																																																				0.448	TMEM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100611.2	NM_020141		87	356	0	0	0	0.01441	0	87	356				
SPAG17	200162	broad.mit.edu	37	1	118584635	118584635	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:118584635C>T	ENST00000336338.5	-	21	2910	c.2845G>A	c.(2845-2847)Gaa>Aaa	p.E949K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	949						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.E949K(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGCTCCTCTTCTGCTAATCGA	0.378																																							uc001ehk.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(2845-2847)GAA>AAA		sperm associated antigen 17							200.0	192.0	195.0					1																	118584635		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118584635C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2845G>A	1.37:g.118584635C>T	ENSP00000337804:p.Glu949Lys						p.E949K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	21	2913	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	949			Potential.		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2845G>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667627	0.88348	.	.	ENSG00000155761	ENST00000336338	T	0.41065	1.01	5.36	5.36	0.76844	.	0.098802	0.64402	D	0.000003	T	0.51363	0.1670	M	0.64997	1.995	0.33084	D	0.53708	D	0.57257	0.979	P	0.62560	0.904	T	0.53704	-0.8401	10	0.54805	T	0.06	.	17.2317	0.86985	0.0:1.0:0.0:0.0	.	949	Q6Q759	SPG17_HUMAN	K	949	ENSP00000337804:E949K	ENSP00000337804:E949K	E	-	1	0	SPAG17	118386158	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.215000	0.58534	2.671000	0.90904	0.650000	0.86243	GAA		0.378	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		14	199	0	0	0	0.016723	0	14	199				
TCHH	7062	broad.mit.edu	37	1	152084547	152084547	+	Silent	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:152084547C>T	ENST00000368804.1	-	2	1145	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	382	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.Q382Q(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgcgcctcagctgctgctcgc	0.721																																							uc001ezp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1144-1146)CAG>CAA		trichohyalin							3.0	5.0	4.0					1																	152084547		1028	2606	3634	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084547C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1146G>A	1.37:g.152084547C>T						TCHH_uc009wne.1_Silent_p.Q382Q	p.Q382Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1146	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		382			8 X 6 AA tandem repeats of R-R-E-Q-Q-L.|2-1.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.1146G>A	CCDS41396.1																																																																																				0.721	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		5	12	0	0	0	0.001168	0	5	12				
RXRG	6258	broad.mit.edu	37	1	165370602	165370602	+	Silent	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:165370602G>T	ENST00000359842.5	-	10	1592	c.1290C>A	c.(1288-1290)ggC>ggA	p.G430G		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	430	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G430G(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GGCATTTCAAGCCAATGGAAC	0.592																																							uc001gda.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1288-1290)GGC>GGA		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						86.0	82.0	84.0					1																	165370602		2203	4300	6503	SO:0001819	synonymous_variant	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165370602G>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1290C>A	1.37:g.165370602G>T							p.G430G	NM_006917	NP_008848	P48443	RXRG_HUMAN			10	1590	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		430			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Silent	SNP	ENST00000359842.5	37	c.1290C>A	CCDS1248.1																																																																																				0.592	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		4	90	1	0	0.00024832	0.009096	0.000272665	4	90				
TPR	7175	broad.mit.edu	37	1	186322931	186322931	+	Silent	SNP	T	T	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:186322931T>G	ENST00000367478.4	-	18	2519	c.2223A>C	c.(2221-2223)tcA>tcC	p.S741S	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	741					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.S742S(1)|p.S741S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTCATGAAGTGATGTTATTT	0.353			T	NTRK1	papillary thyroid																																		uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(2221-2223)TCA>TCC		nuclear pore complex-associated protein TPR							263.0	236.0	244.0					1																	186322931		1915	4131	6046	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186322931T>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2223A>C	1.37:g.186322931T>G							p.S741S	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	18	2520	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	741			Potential.		Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.2223A>C	CCDS41446.1																																																																																				0.353	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		6	90	0	0	0	0.001168	0	6	90				
ZNF281	23528	broad.mit.edu	37	1	200377574	200377574	+	Silent	SNP	G	G	A	rs149361792		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:200377574G>A	ENST00000294740.3	-	2	1384	c.1260C>T	c.(1258-1260)acC>acT	p.T420T	ZNF281_ENST00000367353.1_Silent_p.T420T|ZNF281_ENST00000367352.3_Silent_p.T384T	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	420					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.T420T(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTGTTTTACCGGTCTTCTGTT	0.373																																							uc001gve.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1258-1260)ACC>ACT		zinc finger protein 281		G		0,4406		0,0,2203	137.0	136.0	136.0		1260	-1.1	0.9	1	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF281	NM_012482.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		420/896	200377574	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377574G>A	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1260C>T	1.37:g.200377574G>A						ZNF281_uc001gvf.1_Silent_p.T420T|ZNF281_uc001gvg.1_Silent_p.T384T	p.T420T	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	1367	-			420					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Silent	SNP	ENST00000294740.3	37	c.1260C>T	CCDS1402.1																																																																																				0.373	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		6	116	0	0	0	0.001168	0	6	116				
ZNF281	23528	broad.mit.edu	37	1	200377927	200377927	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:200377927G>T	ENST00000294740.3	-	2	1031	c.907C>A	c.(907-909)Cta>Ata	p.L303I	ZNF281_ENST00000367353.1_Missense_Mutation_p.L303I|ZNF281_ENST00000367352.3_Missense_Mutation_p.L267I	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	303					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.L303I(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTCTGTAGTAGGTATTTCTGA	0.423																																							uc001gve.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(907-909)CTA>ATA		zinc finger protein 281							125.0	127.0	126.0					1																	200377927		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377927G>T	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.907C>A	1.37:g.200377927G>T	ENSP00000294740:p.Leu303Ile					ZNF281_uc001gvf.1_Missense_Mutation_p.L303I|ZNF281_uc001gvg.1_Missense_Mutation_p.L267I	p.L303I	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	1014	-			303			C2H2-type 2.		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.907C>A	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406390	0.62399	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.07567	3.18;3.18;3.18	5.64	5.64	0.86602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000006	T	0.14184	0.0343	N	0.17594	0.5	0.47065	D	0.999301	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.06180	-1.0841	10	0.44086	T	0.13	-3.404	11.0989	0.48161	0.1423:0.0:0.8577:0.0	.	267;303	A6NF48;Q9Y2X9	.;ZN281_HUMAN	I	303;303;267;8	ENSP00000294740:L303I;ENSP00000356322:L303I;ENSP00000356321:L267I	ENSP00000294740:L303I	L	-	1	2	ZNF281	198644550	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.100000	0.50275	2.644000	0.89710	0.655000	0.94253	CTA		0.423	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		8	180	1	0	5.18039e-06	0.00308	6.04379e-06	8	180				
CENPF	1063	broad.mit.edu	37	1	214815962	214815962	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:214815962G>A	ENST00000366955.3	+	12	4449	c.4281G>A	c.(4279-4281)caG>caA	p.Q1427Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.Q1427Q(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCACTGTCAGATGAGCTCTA	0.378																																					Colon(80;575 1284 11000 14801 43496)	Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(4279-4281)CAG>CAA		centromere protein F							42.0	45.0	44.0					1																	214815962		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214815962G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4281G>A	1.37:g.214815962G>A							p.Q1427Q	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	4455	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.4281G>A	CCDS31023.1																																																																																				0.378	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		4	39	0	0	0	0.009096	0	4	39				
OR2T6	254879	broad.mit.edu	37	1	248551128	248551128	+	Nonsense_Mutation	SNP	C	C	A	rs61736241	byFrequency	TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:248551128C>A	ENST00000355728.2	+	1	219	c.219C>A	c.(217-219)taC>taA	p.Y73*		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y73*(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACATTATACATCTCCACCA	0.498																																							uc001iei.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(217-219)TAC>TAA		olfactory receptor, family 2, subfamily T,							197.0	155.0	169.0					1																	248551128		2203	4300	6503	SO:0001587	stop_gained	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551128C>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.219C>A	1.37:g.248551128C>A	ENSP00000347965:p.Tyr73*						p.Y73*	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	219	+	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)		73			Helical; Name=2; (Potential).		A6NE36	Nonsense_Mutation	SNP	ENST00000355728.2	37	c.219C>A	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199308	0.38806	.	.	ENSG00000198104	ENST00000355728	.	.	.	4.38	2.31	0.28768	.	0.000000	0.41001	D	0.000965	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9591	0.41686	0.0:0.8061:0.0:0.1939	.	.	.	.	X	73	.	ENSP00000347965:Y73X	Y	+	3	2	OR2T6	246617751	0.000000	0.05858	1.000000	0.80357	0.267000	0.26476	-0.625000	0.05534	1.042000	0.40150	0.643000	0.83706	TAC		0.498	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		14	56	1	0	7.93312e-07	0.020292	9.35273e-07	14	56				
CREM	1390	broad.mit.edu	37	10	35495854	35495854	+	Silent	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr10:35495854C>T	ENST00000395895.2	+	9	975	c.813C>T	c.(811-813)atC>atT	p.I271I	CREM_ENST00000342105.3_Silent_p.I155I|CREM_ENST00000395887.3_Silent_p.I192I|CREM_ENST00000439705.1_Silent_p.I196I|CREM_ENST00000479070.1_Silent_p.I222I|CREM_ENST00000429130.3_Silent_p.I255I|CREM_ENST00000374734.3_Silent_p.I147I|CREM_ENST00000488741.1_Silent_p.I13I|CREM_ENST00000463314.1_Silent_p.I48I|CREM_ENST00000488328.1_Silent_p.I19I|CREM_ENST00000374728.3_Silent_p.I131I|CREM_ENST00000337656.4_Silent_p.I210I|CREM_ENST00000474931.1_Silent_p.I23I|CREM_ENST00000487763.1_Silent_p.I31I|CREM_ENST00000356917.5_Silent_p.I19I|CREM_ENST00000468236.1_Silent_p.I35I|CREM_ENST00000463960.1_Silent_p.I104I|CREM_ENST00000460270.1_Silent_p.I6I|CREM_ENST00000333809.8_Silent_p.I259I|CREM_ENST00000354759.3_Silent_p.I159I|CREM_ENST00000484283.1_Silent_p.I129I|CREM_ENST00000345491.3_Silent_p.I210I|CREM_ENST00000490511.1_Silent_p.I23I|CREM_ENST00000348787.2_Silent_p.I131I|CREM_ENST00000344351.5_Silent_p.I6I|CREM_ENST00000473940.1_Silent_p.I31I|CREM_ENST00000361599.4_Silent_p.I180I|CREM_ENST00000474362.1_Silent_p.I6I|CREM_ENST00000374721.3_Silent_p.I180I			Q03060	CREM_HUMAN	cAMP responsive element modulator	271					cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I23I(1)|p.I192I(1)|p.I210I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						CTTACCAGATCCGAGCTCCTA	0.458																																							uc001iyb.2		NA																	3	Substitution - coding silent(3)		lung(3)		0						c.(628-630)ATC>ATT		cAMP responsive element modulator isoform a							135.0	143.0	140.0					10																	35495854		2203	4300	6503	SO:0001819	synonymous_variant	1390				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:35495854C>T		CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.813C>T	10.37:g.35495854C>T						CREM_uc001ixy.2_Silent_p.I6I|CREM_uc001ixz.2_Silent_p.I6I|CREM_uc001iya.2_Silent_p.I159I|CREM_uc001iyc.2_Silent_p.I131I|CREM_uc001iyd.2_Silent_p.I210I|CREM_uc001iye.2_Silent_p.I147I|CREM_uc001iyf.2_Silent_p.I180I|CREM_uc001iyg.2_Silent_p.I117I|CREM_uc001iyh.2_Silent_p.I155I|CREM_uc001iyi.2_Silent_p.I92I|CREM_uc001iyj.2_Silent_p.I89I|CREM_uc001iyk.2_Silent_p.I89I|CREM_uc001iyl.2_Silent_p.I31I|CREM_uc001iym.2_Silent_p.I31I|CREM_uc001iyn.2_Silent_p.I19I|CREM_uc001iyo.2_Silent_p.I19I|CREM_uc001iyp.2_Silent_p.I13I|CREM_uc001iyq.2_Silent_p.I23I|CREM_uc001iyr.2_Silent_p.I23I|CREM_uc001iys.2_Silent_p.I6I|CREM_uc001iyt.2_Silent_p.I6I	p.I210I	NM_181571	NP_853549	Q03060	CREM_HUMAN			7	792	+			271					A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Silent	SNP	ENST00000395895.2	37	c.630C>T																																																																																					0.458	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		15	286	0	0	0	0.004007	0	15	286				
C11orf16	56673	broad.mit.edu	37	11	8942930	8942930	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr11:8942930C>T	ENST00000326053.5	-	6	1443	c.1337G>A	c.(1336-1338)gGg>gAg	p.G446E	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	446								p.G446E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TTCAGCTTCCCCTGGCGGGGT	0.522																																							uc001mhb.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1336-1338)GGG>GAG		hypothetical protein LOC56673							133.0	126.0	128.0					11																	8942930		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8942930C>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1337G>A	11.37:g.8942930C>T	ENSP00000318999:p.Gly446Glu					C11orf16_uc001mhc.3_Intron	p.G446E	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	6	1461	-			446					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.1337G>A	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.500731	0.01001	.	.	ENSG00000176029	ENST00000326053	T	0.26223	1.75	3.46	2.35	0.29111	.	1.412180	0.04770	N	0.427842	T	0.11367	0.0277	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27020	-1.0086	10	0.02654	T	1	-21.3444	5.0042	0.14280	0.0:0.1428:0.0:0.8572	.	446	Q9NQ32	CK016_HUMAN	E	446	ENSP00000318999:G446E	ENSP00000318999:G446E	G	-	2	0	C11orf16	8899506	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.829000	0.04415	0.714000	0.32081	-0.312000	0.09012	GGG		0.522	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		8	125	0	0	0	0.006214	0	8	125				
MAP3K11	4296	broad.mit.edu	37	11	65375118	65375118	+	Missense_Mutation	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr11:65375118C>G	ENST00000530153.1	-	4	989	c.468G>C	c.(466-468)aaG>aaC	p.K156N	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000532507.1_5'Flank|MAP3K11_ENST00000309100.3_Missense_Mutation_p.K413N					mitogen-activated protein kinase kinase kinase 11									p.K413N(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCACCTTTTCCTTGGCTCGCA	0.637																																							uc001oew.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1237-1239)AAG>AAC		mitogen-activated protein kinase kinase kinase							57.0	61.0	60.0					11																	65375118		2201	4297	6498	SO:0001583	missense	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65375118C>G		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.468G>C	11.37:g.65375118C>G	ENSP00000433886:p.Lys156Asn					MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.K156N|MAP3K11_uc001oex.1_5'UTR	p.K413N	NM_002419	NP_002410	Q16584	M3K11_HUMAN			4	1732	-			413			Leucine-zipper 1.			Missense_Mutation	SNP	ENST00000530153.1	37	c.1239G>C		.	.	.	.	.	.	.	.	.	.	C	17.52	3.411257	0.62399	.	.	ENSG00000173327	ENST00000309100;ENST00000530153	T;T	0.78481	-1.05;-1.18	5.24	2.17	0.27698	.	0.119433	0.53938	D	0.000045	T	0.81380	0.4810	L	0.54965	1.715	0.50632	D	0.999889	D	0.69078	0.997	D	0.66196	0.942	T	0.78984	-0.1988	10	0.87932	D	0	.	7.3958	0.26936	0.0:0.6247:0.0:0.3753	.	413	Q16584	M3K11_HUMAN	N	413;156	ENSP00000309597:K413N;ENSP00000433886:K156N	ENSP00000309597:K413N	K	-	3	2	MAP3K11	65131694	0.985000	0.35326	1.000000	0.80357	0.801000	0.45260	0.227000	0.17795	0.239000	0.21243	0.491000	0.48974	AAG		0.637	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			22	29	0	0	0	0.01892	0	22	29				
ACAT1	38	broad.mit.edu	37	11	108010912	108010912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr11:108010912G>T	ENST00000265838.4	+	7	791	c.700G>T	c.(700-702)Gaa>Taa	p.E234*		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	234					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)	p.E234*(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	ATTTGGAAATGAAGTTATTCC	0.343																																							uc001pjy.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(700-702)GAA>TAA		acetyl-Coenzyme A acetyltransferase 1 precursor	Sulfasalazine(DB00795)						86.0	89.0	88.0					11																	108010912		2201	4298	6499	SO:0001587	stop_gained	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108010912G>T	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.700G>T	11.37:g.108010912G>T	ENSP00000265838:p.Glu234*					ACAT1_uc001pjx.2_Nonsense_Mutation_p.E108*	p.E234*	NM_000019	NP_000010	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	7	776	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	234					B2R6H1|G3XAB4|Q96FG8	Nonsense_Mutation	SNP	ENST00000265838.4	37	c.700G>T	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379627	0.95945	.	.	ENSG00000075239	ENST00000265838	.	.	.	5.85	5.85	0.93711	.	0.043301	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.0018	20.1775	0.98187	0.0:0.0:1.0:0.0	.	.	.	.	X	234	.	ENSP00000265838:E234X	E	+	1	0	ACAT1	107516122	1.000000	0.71417	0.955000	0.39395	0.832000	0.47134	9.426000	0.97469	2.771000	0.95319	0.561000	0.74099	GAA		0.343	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		6	94	1	0	8.12818e-05	0.001984	9.10357e-05	6	94				
SCN3B	55800	broad.mit.edu	37	11	123508984	123508984	+	Missense_Mutation	SNP	A	A	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr11:123508984A>G	ENST00000392770.2	-	4	1296	c.494T>C	c.(493-495)cTt>cCt	p.L165P	SCN3B_ENST00000299333.3_Missense_Mutation_p.L165P|SCN3B_ENST00000530277.1_Missense_Mutation_p.L165P	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	165					atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.L165P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GAAGACCAGAAGGATGTACAT	0.463																																							uc001pza.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(493-495)CTT>CCT		voltage-gated sodium channel beta-3 subunit							97.0	83.0	88.0					11																	123508984		2202	4299	6501	SO:0001583	missense	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123508984A>G	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.494T>C	11.37:g.123508984A>G	ENSP00000376523:p.Leu165Pro					SCN3B_uc001pzb.1_Missense_Mutation_p.L165P	p.L165P	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	5	901	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	165			Helical; (Potential).		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	c.494T>C	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018679	0.75275	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277	D;D;D	0.97041	-4.22;-4.22;-4.22	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97188	0.9081	L	0.55481	1.735	0.80722	D	1	D	0.58268	0.982	P	0.57283	0.817	D	0.96789	0.9581	10	0.37606	T	0.19	-5.4356	15.7616	0.78087	1.0:0.0:0.0:0.0	.	165	Q9NY72	SCN3B_HUMAN	P	165	ENSP00000376523:L165P;ENSP00000299333:L165P;ENSP00000432785:L165P	ENSP00000299333:L165P	L	-	2	0	SCN3B	123014194	0.999000	0.42202	0.955000	0.39395	0.994000	0.84299	4.026000	0.57232	2.121000	0.65114	0.533000	0.62120	CTT		0.463	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		4	67	0	0	0	0.009096	0	4	67				
ANO2	57101	broad.mit.edu	37	12	5685180	5685180	+	Splice_Site	SNP	G	G	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr12:5685180G>C	ENST00000356134.5	-	25	2515	c.2444C>G	c.(2443-2445)gCt>gGt	p.A815G	ANO2_ENST00000546188.1_Splice_Site_p.A815G|ANO2_ENST00000327087.8_Splice_Site_p.A814G	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	819					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.A815G(1)|p.A814G(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AATGACAAAAGCCTGAGGGAC	0.517																																							uc001qnm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(2440-2442)GCT>GGT		anoctamin 2							62.0	66.0	65.0					12																	5685180		1967	4157	6124	SO:0001630	splice_region_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5685180G>C	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2443-1C>G	12.37:g.5685180G>C							p.A814G	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			24	2513	-			819			Helical; (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2441C>G		.	.	.	.	.	.	.	.	.	.	G	23.9	4.468918	0.84533	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.65732	-0.17;-0.17;-0.17	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75883	-0.3160	10	0.39692	T	0.17	.	17.35	0.87321	0.0:0.0:1.0:0.0	.	814	Q9NQ90-3	.	G	814;815;815;819	ENSP00000314048:A814G;ENSP00000348453:A815G;ENSP00000440981:A815G	ENSP00000314048:A814G	A	-	2	0	ANO2	5555441	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.402000	0.81655	0.650000	0.86243	GCT		0.517	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	Missense_Mutation	2	7	0	0	0	0.004672	0	2	7				
IRAK4	51135	broad.mit.edu	37	12	44180500	44180500	+	Silent	SNP	A	A	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr12:44180500A>G	ENST00000448290.2	+	12	1436	c.1365A>G	c.(1363-1365)caA>caG	p.Q455Q	IRAK4_ENST00000440781.2_Silent_p.Q331Q|IRAK4_ENST00000551736.1_Silent_p.Q455Q|IRAK4_ENST00000431837.1_Silent_p.Q331Q	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	455					cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q455Q(1)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AGCTGCTGCAAGAGATGACAG	0.294																																							uc001rnu.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1363-1365)CAA>CAG		interleukin-1 receptor-associated kinase 4							57.0	64.0	62.0					12																	44180500		2202	4299	6501	SO:0001819	synonymous_variant	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44180500A>G	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1365A>G	12.37:g.44180500A>G						IRAK4_uc001rnt.3_Silent_p.Q455Q|IRAK4_uc001rnx.3_Silent_p.Q331Q|IRAK4_uc001rny.3_Silent_p.Q331Q|IRAK4_uc010sky.1_Silent_p.Q331Q|IRAK4_uc001rnv.3_Silent_p.Q331Q|IRAK4_uc001rnw.3_Silent_p.Q331Q	p.Q455Q	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	13	1495	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	455					Q69FE1|Q8TDF7|Q9Y589	Silent	SNP	ENST00000448290.2	37	c.1365A>G	CCDS8744.1																																																																																				0.294	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			4	85	0	0	0	0.014758	0	4	85				
KDM2B	84678	broad.mit.edu	37	12	121881874	121881874	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr12:121881874C>T	ENST00000377071.4	-	16	2464	c.2392G>A	c.(2392-2394)Gtg>Atg	p.V798M	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.V166M|KDM2B_ENST00000377069.4_Missense_Mutation_p.V767M	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	798					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.V437M(1)|p.V798M(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCAGGTGCACGTCGTCAGAC	0.642											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001uat.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2392-2394)GTG>ATG		F-box and leucine-rich repeat protein 10 isoform							77.0	84.0	82.0					12																	121881874		2045	4186	6231	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121881874C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2392G>A	12.37:g.121881874C>T	ENSP00000366271:p.Val798Met		OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1514	KDM2B_uc001uaq.2_Missense_Mutation_p.V238M|KDM2B_uc010szy.1_Missense_Mutation_p.V238M|KDM2B_uc001uar.2_Missense_Mutation_p.V389M|KDM2B_uc001uas.2_Missense_Mutation_p.V767M|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.V46M|KDM2B_uc010szx.1_Missense_Mutation_p.V46M|KDM2B_uc001uap.2_RNA	p.V798M	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			16	2496	-			798					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2392G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157419	0.57259	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.23754	2.22;2.36;1.89	5.92	5.04	0.67666	.	0.136299	0.32548	N	0.005960	T	0.20780	0.0500	L	0.40543	1.245	0.80722	D	1	B;B;D;B	0.58620	0.066;0.154;0.983;0.066	B;B;B;B	0.38296	0.007;0.01;0.27;0.007	T	0.02156	-1.1204	10	0.36615	T	0.2	-13.7328	14.8489	0.70281	0.0:0.9315:0.0:0.0685	.	238;798;767;241	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	M	798;166;767;798;241;801	ENSP00000437821:V166M;ENSP00000366269:V767M;ENSP00000366271:V798M	ENSP00000261824:V801M	V	-	1	0	KDM2B	120366257	0.991000	0.36638	0.900000	0.35374	0.730000	0.41778	4.089000	0.57685	1.520000	0.48965	0.561000	0.74099	GTG		0.642	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		23	59	0	0	0	0.01892	0	23	59				
CEBPE	1053	broad.mit.edu	37	14	23586974	23586974	+	Missense_Mutation	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr14:23586974C>A	ENST00000206513.5	-	2	1092	c.568G>T	c.(568-570)Gct>Tct	p.A190S		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	190					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AAGGGGCCAGCCGGGGAGGGC	0.662																																					NSCLC(63;1230 1818 14565 22565)	NSCLC(63;1230 1818 14565 22565)	uc001wiv.1		NA																	0				ovary(2)	2						c.(568-570)GCT>TCT		CCAAT/enhancer binding protein epsilon							42.0	47.0	46.0					14																	23586974		2202	4297	6499	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23586974C>A		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.568G>T	14.37:g.23586974C>A	ENSP00000206513:p.Ala190Ser						p.A190S	NM_001805	NP_001796	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	2	742	-	all_cancers(95;4.6e-05)		190					Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.568G>T	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	C	5.175	0.217805	0.09810	.	.	ENSG00000092067	ENST00000206513	T	0.30182	1.54	5.2	5.2	0.72013	.	0.341749	0.31358	N	0.007798	T	0.15782	0.0380	N	0.22421	0.69	0.09310	N	1	B	0.29862	0.259	B	0.20955	0.032	T	0.20974	-1.0259	10	0.02654	T	1	-4.6037	11.3442	0.49550	0.1815:0.8185:0.0:0.0	.	190	Q15744	CEBPE_HUMAN	S	190	ENSP00000206513:A190S	ENSP00000206513:A190S	A	-	1	0	CEBPE	22656814	0.008000	0.16893	0.205000	0.23548	0.395000	0.30598	0.859000	0.27858	2.416000	0.81992	0.655000	0.94253	GCT		0.662	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		4	103	1	0	3.59834e-05	0.001168	4.11238e-05	4	103				
DHRS2	10202	broad.mit.edu	37	14	24108557	24108557	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr14:24108557G>T	ENST00000250383.6	+	3	786	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.V104L	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	104					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)	p.V104L(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GGAGCAGCTGGTGGCCAAGGT	0.637																																							uc001wkt.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(310-312)GTG>TTG		dehydrogenase/reductase member 2 isoform 1							22.0	25.0	24.0					14																	24108557		2203	4299	6502	SO:0001583	missense	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24108557G>T		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.310G>T	14.37:g.24108557G>T	ENSP00000250383:p.Val104Leu					DHRS2_uc010aku.1_Missense_Mutation_p.V104L|DHRS2_uc001wku.3_Missense_Mutation_p.V104L|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.V104L	p.V104L	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	3	757	+			82					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.310G>T	CCDS9604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.162|8.162	0.789645|0.789645	0.16258|0.16258	.|.	.|.	ENSG00000100867|ENSG00000100867	ENST00000557535|ENST00000432832;ENST00000250383;ENST00000344777;ENST00000553600	.|T;T;T;T	.|0.43688	.|0.94;0.94;0.94;0.94	4.91|4.91	4.0|4.0	0.46444|0.46444	.|NAD(P)-binding domain (1);	.|0.150158	.|0.47093	.|D	.|0.000242	T|T	0.31389|0.31389	0.0795|0.0795	L|L	0.31207|0.31207	0.915|0.915	0.35553|0.35553	D|D	0.80403|0.80403	.|B;B;B;B	.|0.26002	.|0.002;0.011;0.139;0.035	.|B;B;B;B	.|0.32677	.|0.031;0.053;0.106;0.15	T|T	0.36866|0.36866	-0.9730|-0.9730	5|10	.|0.44086	.|T	.|0.13	.|.	7.7892|7.7892	0.29110|0.29110	0.1888:0.0:0.8112:0.0|0.1888:0.0:0.8112:0.0	.|.	.|82;104;104;82	.|Q13268;C9JZP6;D3DS54;Q13268-2	.|DHRS2_HUMAN;.;.;.	V|L	19|104;104;104;4	.|ENSP00000401213:V104L;ENSP00000250383:V104L;ENSP00000344674:V104L;ENSP00000451485:V4L	.|ENSP00000250383:V104L	G|V	+|+	2|1	0|0	DHRS2|DHRS2	23178397|23178397	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.004000|0.004000	0.04260|0.04260	1.452000|1.452000	0.35156|0.35156	1.263000|1.263000	0.44181|0.44181	0.491000|0.491000	0.48974|0.48974	GGT|GTG		0.637	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		4	24	1	0	0.00909568	0.009096	0.00952071	4	24				
EGLN3	112399	broad.mit.edu	37	14	34398322	34398322	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr14:34398322G>A	ENST00000250457.3	-	3	902	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	EGLN3_ENST00000553215.1_Missense_Mutation_p.R98C	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	192	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	GGGTTCCTACGATCTGACCAG	0.507																																					Esophageal Squamous(161;245 1904 13895 22565 30076)	Esophageal Squamous(161;245 1904 13895 22565 30076)	uc001wsa.3		NA																	0					0						c.(574-576)CGT>TGT		egl nine homolog 3	Vitamin C(DB00126)						108.0	101.0	104.0					14																	34398322		2203	4300	6503	SO:0001583	missense	112399				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	g.chr14:34398322G>A	AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 3"""	606426	"""EGL nine (C.elegans) homolog 3"", ""egl nine homolog 3 (C. elegans)"""				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.574C>T	14.37:g.34398322G>A	ENSP00000250457:p.Arg192Cys					EGLN3_uc001wry.2_Missense_Mutation_p.R98C|EGLN3_uc001wrz.2_Missense_Mutation_p.R192C	p.R192C	NM_022073	NP_071356	Q9H6Z9	EGLN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	3	900	-	Breast(36;0.0303)|Hepatocellular(127;0.133)		192			Fe2OG dioxygenase.		Q2TA79|Q3B8N4|Q6P1R2	Missense_Mutation	SNP	ENST00000250457.3	37	c.574C>T	CCDS9646.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687594	0.68157	.	.	ENSG00000129521	ENST00000250457;ENST00000539567;ENST00000553215;ENST00000487915	T;T;T	0.60672	0.17;0.17;0.17	5.52	4.62	0.57501	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	M	0.86651	2.83	0.80722	D	1	P;P	0.49185	0.92;0.854	P;B	0.48114	0.567;0.316	T	0.75932	-0.3143	10	0.62326	D	0.03	-5.9528	13.6494	0.62301	0.0:0.0:0.7181:0.2819	.	192;98	Q9H6Z9;F8W1G2	EGLN3_HUMAN;.	C	192;192;98;74	ENSP00000250457:R192C;ENSP00000447470:R98C;ENSP00000451316:R74C	ENSP00000250457:R192C	R	-	1	0	EGLN3	33468073	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	5.473000	0.66774	1.442000	0.47568	0.655000	0.94253	CGT		0.507	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1			8	81	0	0	0	0.004482	0	8	81				
CHGA	1113	broad.mit.edu	37	14	93393922	93393922	+	Missense_Mutation	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr14:93393922A>T	ENST00000216492.5	+	4	495	c.215A>T	c.(214-216)cAt>cTt	p.H72L	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Missense_Mutation_p.H72L	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	72					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)		p.H72L(1)		cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		ATTCTGAGACATCAGAATTTA	0.433																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	uc001ybc.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(214-216)CAT>CTT		chromogranin A precursor							182.0	195.0	191.0					14																	93393922		2203	4300	6503	SO:0001583	missense	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93393922A>T		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.215A>T	14.37:g.93393922A>T	ENSP00000216492:p.His72Leu					CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_Missense_Mutation_p.H72L	p.H72L	NM_001275	NP_001266	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	4	475	+		all_cancers(154;0.0843)	72					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	37	c.215A>T	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303727	0.81136	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.01560	4.77;4.77	5.97	5.97	0.96955	.	0.105297	0.64402	D	0.000004	T	0.07818	0.0196	M	0.62723	1.935	0.40057	D	0.975851	D;D	0.89917	0.998;1.0	D;D	0.80764	0.943;0.994	T	0.02226	-1.1192	10	0.72032	D	0.01	-17.8395	10.024	0.42059	0.9256:0.0:0.0744:0.0	.	72;72	G5E968;P10645	.;CMGA_HUMAN	L	72	ENSP00000216492:H72L;ENSP00000334023:H72L	ENSP00000216492:H72L	H	+	2	0	CHGA	92463675	1.000000	0.71417	0.996000	0.52242	0.884000	0.51177	4.867000	0.63013	2.288000	0.76882	0.533000	0.62120	CAT		0.433	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		8	264	0	0	0	0.00308	0	8	264				
TRIM72	493829	broad.mit.edu	37	16	31234266	31234266	+	Splice_Site	SNP	G	G	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr16:31234266G>C	ENST00000322122.3	+	6	1143	c.859G>C	c.(859-861)Gcg>Ccg	p.A287P		NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase									p.A287P(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TCTGATGCCAGGTACCGGGAG	0.602																																							uc002ebn.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(859-861)GCG>CCG		tripartite motif-containing 72							86.0	89.0	88.0					16																	31234266		2197	4300	6497	SO:0001630	splice_region_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31234266G>C	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32671	protein-coding gene	gene with protein product	"""mitsugumin 53"""	613288	"""tripartite motif-containing 72"", ""tripartite motif containing 72"""			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.859+1G>C	16.37:g.31234266G>C						uc002ebp.1_5'Flank	p.A287P	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN			6	1088	+			287			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000322122.3	37	c.859G>C	CCDS32437.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523521	0.64747	.	.	ENSG00000177238	ENST00000322122	T	0.61274	0.12	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.252977	0.32952	N	0.005441	T	0.58566	0.2131	M	0.69823	2.125	0.53688	D	0.999975	B	0.25521	0.128	B	0.19391	0.025	T	0.58526	-0.7621	10	0.41790	T	0.15	.	17.2936	0.87163	0.0:0.0:1.0:0.0	.	287	Q6ZMU5	TRI72_HUMAN	P	287	ENSP00000312675:A287P	ENSP00000312675:A287P	A	+	1	0	TRIM72	31141767	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.865000	0.69583	2.362000	0.80069	0.561000	0.74099	GCG		0.602	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1	NM_001008274	Missense_Mutation	6	108	0	0	0	0.001984	0	6	108				
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G	rs371409680		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr17:7577090C>G	ENST00000269305.4	-	8	1037	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000420246.2_Missense_Mutation_p.R283P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCTCTGTGCGCCGGTCTCT	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		73	Substitution - Missense(44)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(2)|Unknown(2)|Complex - deletion inframe(1)	p.R283P(23)|p.R283C(18)|p.R283H(12)|p.0?(7)|p.R283L(4)|p.R283R(4)|p.R283fs*62(4)|p.R283G(2)|p.R283fs*63(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)	lung(13)|upper_aerodigestive_tract(10)|urinary_tract(9)|haematopoietic_and_lymphoid_tissue(6)|large_intestine(5)|breast(5)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(3)|oesophagus(3)|pancreas(2)|autonomic_ganglia(2)|liver(2)|cervix(1)|biliary_tract(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM021154	TP53	M		c.(847-849)CGC>CCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							86.0	73.0	78.0					17																	7577090		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577090C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.848G>C	17.37:g.7577090C>G	ENSP00000269305:p.Arg283Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R283P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R151P|TP53_uc010cng.1_Missense_Mutation_p.R151P|TP53_uc002gii.1_Missense_Mutation_p.R151P|TP53_uc010cnh.1_Missense_Mutation_p.R283P|TP53_uc010cni.1_Missense_Mutation_p.R283P|TP53_uc002gij.2_Missense_Mutation_p.R283P	p.R283P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1042	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	283		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.848G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692626	0.68271	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99804	-6.83;-6.83;-6.83;-6.83;-6.83;-6.83	4.99	4.02	0.46733	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.056377	0.64402	D	0.000003	D	0.99641	0.9868	M	0.78049	2.395	0.28236	N	0.925907	P;D;D;P	0.76494	0.939;0.999;0.977;0.951	P;D;D;D	0.70016	0.889;0.967;0.933;0.933	D	0.98126	1.0428	10	0.87932	D	0	-4.3612	11.3481	0.49573	0.0:0.9114:0.0:0.0886	.	283;283;283;283	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	283;283;283;283;283;272;151	ENSP00000352610:R283P;ENSP00000269305:R283P;ENSP00000398846:R283P;ENSP00000391127:R283P;ENSP00000391478:R283P;ENSP00000425104:R151P	ENSP00000269305:R283P	R	-	2	0	TP53	7517815	0.998000	0.40836	0.015000	0.15790	0.873000	0.50193	3.584000	0.53936	1.318000	0.45170	0.462000	0.41574	CGC		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	15	0	0	0	0.008291	0	11	15				
MYH13	8735	broad.mit.edu	37	17	10248922	10248922	+	Silent	SNP	C	C	T	rs368819674		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr17:10248922C>T	ENST00000418404.3	-	13	1438	c.1275G>A	c.(1273-1275)tcG>tcA	p.S425S	MYH13_ENST00000252172.4_Silent_p.S425S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	425	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.S425S(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GAGCACCCACCGAATTGGTCA	0.478																																							uc002gmk.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(1273-1275)TCG>TCA		myosin, heavy polypeptide 13, skeletal muscle		C		1,4405	2.1+/-5.4	0,1,2202	152.0	143.0	146.0		1275	-8.6	0.1	17		146	0,8600		0,0,4300	no	coding-synonymous	MYH13	NM_003802.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		425/1939	10248922	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248922C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1275G>A	17.37:g.10248922C>T						MYH13_uc010vvf.1_Silent_p.S100S	p.S425S	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			14	1365	-			425			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.1275G>A	CCDS45613.1																																																																																				0.478	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		7	102	0	0	0	0.004482	0	7	102				
CWC25	54883	broad.mit.edu	37	17	36958457	36958457	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr17:36958457C>T	ENST00000225428.5	-	10	1463	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	PIP4K2B_ENST00000269554.3_5'Flank|CWC25_ENST00000536127.1_Missense_Mutation_p.R326H|PIP4K2B_ENST00000311500.6_5'Flank	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	389								p.R389H(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CAGCTTCATGCGGCTAGGAAG	0.453																																							uc002hqu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1165-1167)CGC>CAC		coiled-coil domain containing 49							52.0	49.0	50.0					17																	36958457		1904	4128	6032	SO:0001583	missense	54883							g.chr17:36958457C>T	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1166G>A	17.37:g.36958457C>T	ENSP00000225428:p.Arg389His					CWC25_uc010wdv.1_Missense_Mutation_p.R326H|PIP4K2B_uc002hqs.2_5'Flank|PIP4K2B_uc010wdt.1_5'Flank	p.R389H	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN			10	1319	-			389					A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	c.1166G>A	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374997	0.42105	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.05	2.85	0.33270	.	0.512105	0.23704	N	0.045388	T	0.32194	0.0821	N	0.22421	0.69	0.43489	D	0.995724	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.12066	-1.0562	9	0.35671	T	0.21	.	4.6786	0.12724	0.0:0.5777:0.0:0.4223	.	326;389	B4DJK2;Q9NXE8	.;CWC25_HUMAN	H	389;326	.	ENSP00000225428:R389H	R	-	2	0	CWC25	34211983	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.520000	0.45554	1.280000	0.44463	0.563000	0.77884	CGC		0.453	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		3	33	0	0	0	0.004672	0	3	33				
HSPB9	94086	broad.mit.edu	37	17	40275188	40275188	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr17:40275188C>T	ENST00000355067.3	+	1	433	c.320C>T	c.(319-321)cCg>cTg	p.P107L	CTD-2132N18.3_ENST00000592574.1_Intron|KAT2A_ENST00000225916.5_5'Flank	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	107					response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P107L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AAAATGCTCCCGTCCAACCTG	0.632																																							uc002hyy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(319-321)CCG>CTG		heat shock protein, alpha-crystallin-related,							116.0	100.0	105.0					17																	40275188		2203	4300	6503	SO:0001583	missense	94086				response to stress	cytoplasm|nucleus	protein binding	g.chr17:40275188C>T	AJ302068	CCDS11418.1	17q21	2011-09-02			ENSG00000197723	ENSG00000260325		"""Heat shock proteins / HSPB"""	30589	protein-coding gene	gene with protein product	"""cancer/testis antigen 51"""	608344				11470154, 12820654	Standard	NM_033194		Approved	CT51	uc002hyy.2	Q9BQS6	OTTHUMG00000133500	ENST00000355067.3:c.320C>T	17.37:g.40275188C>T	ENSP00000347178:p.Pro107Leu					KAT2A_uc002hyx.2_5'Flank	p.P107L	NM_033194	NP_149971	Q9BQS6	HSPB9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	1	433	+		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)	107					B3KSG6|Q52LB4	Missense_Mutation	SNP	ENST00000355067.3	37	c.320C>T	CCDS11418.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816669	0.50633	.	.	ENSG00000197723	ENST00000355067	D	0.98249	-4.82	3.68	2.71	0.32032	Heat shock protein Hsp20 (2);	0.000000	0.64402	D	0.000002	D	0.97238	0.9097	M	0.85777	2.775	0.21878	N	0.999492	B	0.24186	0.099	B	0.26094	0.066	D	0.94807	0.7975	10	0.87932	D	0	-19.4559	9.2306	0.37434	0.0:0.8945:0.0:0.1055	.	107	Q9BQS6	HSPB9_HUMAN	L	107	ENSP00000347178:P107L	ENSP00000347178:P107L	P	+	2	0	HSPB9	37528714	0.181000	0.23161	0.032000	0.17829	0.004000	0.04260	2.344000	0.44010	1.147000	0.42369	-0.224000	0.12420	CCG		0.632	HSPB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257438.1	NM_033194		14	76	0	0	0	0.020292	0	14	76				
CEP76	79959	broad.mit.edu	37	18	12699187	12699187	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:12699187G>T	ENST00000262127.2	-	4	536	c.311C>A	c.(310-312)aCa>aAa	p.T104K	CEP76_ENST00000423709.2_Intron|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000586887.1_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	104					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.T104K(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATACCTCCGTGTTGGATCAAT	0.363																																							uc002kri.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(310-312)ACA>AAA		centrosomal protein 76kDa							77.0	78.0	78.0					18																	12699187		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12699187G>T	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.311C>A	18.37:g.12699187G>T	ENSP00000262127:p.Thr104Lys					PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.1_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_Intron	p.T104K	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN			4	467	-			104					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.311C>A	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533511	0.45073	.	.	ENSG00000101624	ENST00000262127	T	0.79653	-1.29	5.83	5.83	0.93111	.	0.177017	0.53938	D	0.000043	T	0.74974	0.3787	L	0.45581	1.43	0.80722	D	1	B	0.21225	0.053	B	0.20955	0.032	T	0.69950	-0.5006	10	0.06099	T	0.92	-13.7436	20.1338	0.98010	0.0:0.0:1.0:0.0	.	104	Q8TAP6	CEP76_HUMAN	K	104	ENSP00000262127:T104K	ENSP00000262127:T104K	T	-	2	0	CEP76	12689187	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.331000	0.72929	2.770000	0.95276	0.655000	0.94253	ACA		0.363	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		7	82	1	0	0.000157383	0.00308	0.000174524	7	82				
ESCO1	114799	broad.mit.edu	37	18	19153993	19153993	+	Missense_Mutation	SNP	T	T	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:19153993T>A	ENST00000269214.5	-	4	1749	c.812A>T	c.(811-813)aAt>aTt	p.N271I		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	271					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGTGTTAGTATTCACTTGTGT	0.428																																							uc002kth.1		NA																	0					0						c.(811-813)AAT>ATT		establishment of cohesion 1 homolog 1							173.0	172.0	172.0					18																	19153993		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19153993T>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.812A>T	18.37:g.19153993T>A	ENSP00000269214:p.Asn271Ile					ESCO1_uc002kti.1_RNA	p.N271I	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN			4	1746	-			271					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.812A>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	6.116	0.389718	0.11581	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.59224	0.28;1.84	4.98	1.21	0.21127	.	0.635593	0.15388	N	0.264974	T	0.45175	0.1329	L	0.51422	1.61	0.09310	N	0.999996	B	0.06786	0.001	B	0.08055	0.003	T	0.38972	-0.9636	10	0.52906	T	0.07	-27.8991	3.8683	0.09025	0.1554:0.1698:0.0:0.6748	.	271	Q5FWF5	ESCO1_HUMAN	I	271	ENSP00000269214:N271I;ENSP00000372763:N271I	ENSP00000269214:N271I	N	-	2	0	ESCO1	17407991	0.478000	0.25917	0.462000	0.27118	0.187000	0.23431	0.881000	0.28173	0.060000	0.16281	0.533000	0.62120	AAT		0.428	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		14	185	0	0	0	0.020292	0	14	185				
LAMA3	3909	broad.mit.edu	37	18	21399897	21399897	+	Missense_Mutation	SNP	G	G	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21399897G>C	ENST00000313654.9	+	19	2481	c.2240G>C	c.(2239-2241)gGa>gCa	p.G747A	LAMA3_ENST00000399516.3_Missense_Mutation_p.G747A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	747					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.G747A(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTTCGATTTGGATTTGATCCG	0.458																																							uc002kuq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2239-2241)GGA>GCA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						135.0	129.0	131.0					18																	21399897		1919	4129	6048	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21399897G>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2240G>C	18.37:g.21399897G>C	ENSP00000324532:p.Gly747Ala					LAMA3_uc002kur.2_Missense_Mutation_p.G747A	p.G747A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			19	2326	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		747					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2240G>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465655	0.84425	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.19105	2.19;2.17	5.47	5.47	0.80525	.	.	.	.	.	T	0.47303	0.1438	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.28744	-1.0034	9	0.42905	T	0.14	.	19.3278	0.94270	0.0:0.0:1.0:0.0	.	747;747	Q6VU67;Q16787	.;LAMA3_HUMAN	A	747;747;745	ENSP00000324532:G747A;ENSP00000382432:G747A	ENSP00000324532:G747A	G	+	2	0	LAMA3	19653895	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	9.399000	0.97285	2.579000	0.87056	0.555000	0.69702	GGA		0.458	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		8	61	0	0	0	0.004482	0	8	61				
LAMA3	3909	broad.mit.edu	37	18	21399920	21399920	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21399920G>A	ENST00000313654.9	+	19	2504	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E755K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	755					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.E755K(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGCATTTCCTGAGTTTAGCTG	0.478																																							uc002kuq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2263-2265)GAG>AAG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						116.0	112.0	113.0					18																	21399920		1947	4139	6086	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21399920G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2263G>A	18.37:g.21399920G>A	ENSP00000324532:p.Glu755Lys					LAMA3_uc002kur.2_Missense_Mutation_p.E755K	p.E755K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			19	2349	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		755					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2263G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990191	0.35131	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.18338	2.23;2.22	5.71	4.84	0.62591	.	.	.	.	.	T	0.16428	0.0395	L	0.47716	1.5	0.28940	N	0.891046	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.07888	-1.0749	9	0.44086	T	0.13	.	9.2245	0.37398	0.2056:0.0:0.7944:0.0	.	755;755	Q6VU67;Q16787	.;LAMA3_HUMAN	K	755;755;753	ENSP00000324532:E755K;ENSP00000382432:E755K	ENSP00000324532:E755K	E	+	1	0	LAMA3	19653918	0.050000	0.20438	0.080000	0.20451	0.776000	0.43924	0.961000	0.29267	1.420000	0.47138	0.555000	0.69702	GAG		0.478	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		8	49	0	0	0	0.004482	0	8	49				
LAMA3	3909	broad.mit.edu	37	18	21402219	21402219	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21402219G>A	ENST00000313654.9	+	20	2549	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	LAMA3_ENST00000399516.3_Missense_Mutation_p.D770N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	770					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.D770N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTTTCAGAATGATGTAAGAAT	0.373																																							uc002kuq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2308-2310)GAT>AAT		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						119.0	109.0	112.0					18																	21402219		1876	4108	5984	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21402219G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2308G>A	18.37:g.21402219G>A	ENSP00000324532:p.Asp770Asn					LAMA3_uc002kur.2_Missense_Mutation_p.D770N	p.D770N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			20	2394	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		770					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2308G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328766	0.60743	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.17370	2.29;2.28	5.29	4.42	0.53409	.	.	.	.	.	T	0.11324	0.0276	N	0.14661	0.345	0.80722	D	1	B;B	0.27823	0.19;0.156	B;B	0.24541	0.05;0.054	T	0.10314	-1.0635	9	0.42905	T	0.14	.	14.4365	0.67284	0.0717:0.0:0.9283:0.0	.	770;770	Q6VU67;Q16787	.;LAMA3_HUMAN	N	770;770;768	ENSP00000324532:D770N;ENSP00000382432:D770N	ENSP00000324532:D770N	D	+	1	0	LAMA3	19656217	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.279000	0.58953	1.363000	0.46019	0.650000	0.86243	GAT		0.373	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		9	57	0	0	0	0.006214	0	9	57				
LAMA3	3909	broad.mit.edu	37	18	21402226	21402226	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21402226G>A	ENST00000313654.9	+	20	2556	c.2315G>A	c.(2314-2316)aGa>aAa	p.R772K	LAMA3_ENST00000399516.3_Missense_Mutation_p.R772K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	772					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R772K(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AATGATGTAAGAATAACATTG	0.363																																							uc002kuq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2314-2316)AGA>AAA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122.0	112.0	115.0					18																	21402226		1875	4105	5980	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21402226G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2315G>A	18.37:g.21402226G>A	ENSP00000324532:p.Arg772Lys					LAMA3_uc002kur.2_Missense_Mutation_p.R772K	p.R772K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			20	2401	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		772					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2315G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	2.896	-0.228525	0.06022	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.18016	2.26;2.24	5.29	-1.31	0.09230	.	.	.	.	.	T	0.07773	0.0195	N	0.17723	0.515	0.20638	N	0.99988	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.003	T	0.42799	-0.9430	9	0.06891	T	0.86	.	6.1547	0.20330	0.4438:0.124:0.4322:0.0	.	772;772	Q6VU67;Q16787	.;LAMA3_HUMAN	K	772;772;770	ENSP00000324532:R772K;ENSP00000382432:R772K	ENSP00000324532:R772K	R	+	2	0	LAMA3	19656224	0.882000	0.30256	0.023000	0.16930	0.979000	0.70002	0.148000	0.16224	-0.228000	0.09869	0.650000	0.86243	AGA		0.363	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		7	61	0	0	0	0.004482	0	7	61				
LAMA3	3909	broad.mit.edu	37	18	21402295	21402295	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21402295G>A	ENST00000313654.9	+	20	2625	c.2384G>A	c.(2383-2385)gGa>gAa	p.G795E	LAMA3_ENST00000399516.3_Missense_Mutation_p.G795E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	795					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.G795E(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GTTAACCCTGGAACTGAAGCA	0.378																																							uc002kuq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2383-2385)GGA>GAA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						115.0	107.0	109.0					18																	21402295		1883	4107	5990	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21402295G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2384G>A	18.37:g.21402295G>A	ENSP00000324532:p.Gly795Glu					LAMA3_uc002kur.2_Missense_Mutation_p.G795E	p.G795E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			20	2470	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		795					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2384G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856147	0.71834	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.18338	2.24;2.22	5.7	5.7	0.88788	.	.	.	.	.	T	0.23572	0.0570	M	0.64676	1.99	0.80722	D	1	P;D	0.56521	0.911;0.976	B;P	0.45538	0.433;0.484	T	0.00817	-1.1554	9	0.54805	T	0.06	.	13.1483	0.59474	0.0729:0.0:0.9271:0.0	.	795;795	Q6VU67;Q16787	.;LAMA3_HUMAN	E	795;795;793	ENSP00000324532:G795E;ENSP00000382432:G795E	ENSP00000324532:G795E	G	+	2	0	LAMA3	19656293	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	3.517000	0.53443	2.705000	0.92388	0.650000	0.86243	GGA		0.378	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		9	85	0	0	0	0.006214	0	9	85				
LAMA3	3909	broad.mit.edu	37	18	21404467	21404467	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21404467G>A	ENST00000313654.9	+	21	2750	c.2509G>A	c.(2509-2511)Gac>Aac	p.D837N	LAMA3_ENST00000399516.3_Missense_Mutation_p.D837N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	837	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.D837N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGGTTTTGCAGACCCATTTTC	0.458																																							uc002kuq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2509-2511)GAC>AAC		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						128.0	127.0	127.0					18																	21404467		1909	4116	6025	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21404467G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2509G>A	18.37:g.21404467G>A	ENSP00000324532:p.Asp837Asn					LAMA3_uc002kur.2_Missense_Mutation_p.D837N	p.D837N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			21	2595	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		837			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2509G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407746	0.62399	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.17691	2.28;2.26	5.95	4.13	0.48395	.	.	.	.	.	T	0.14700	0.0355	L	0.36672	1.1	0.80722	D	1	P;P	0.39665	0.561;0.682	B;B	0.32864	0.079;0.154	T	0.01561	-1.1324	9	0.56958	D	0.05	.	16.6665	0.85254	0.0:0.2449:0.7551:0.0	.	837;837	Q6VU67;Q16787	.;LAMA3_HUMAN	N	837;837;835	ENSP00000324532:D837N;ENSP00000382432:D837N	ENSP00000324532:D837N	D	+	1	0	LAMA3	19658465	1.000000	0.71417	0.707000	0.30419	0.968000	0.65278	4.162000	0.58177	0.814000	0.34374	0.655000	0.94253	GAC		0.458	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		13	74	0	0	0	0.013537	0	13	74				
QPCTL	54814	broad.mit.edu	37	19	46202151	46202151	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr19:46202151G>A	ENST00000012049.5	+	5	1100	c.879G>A	c.(877-879)agG>agA	p.R293R	QPCTL_ENST00000366382.4_Silent_p.R199R	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	293					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.R293R(1)		breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		ATCGGCTGAGGAGCATTGGTA	0.607																																							uc010xxr.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(877-879)AGG>AGA		glutaminyl-peptide cyclotransferase-like isoform							64.0	63.0	63.0					19																	46202151		2203	4300	6503	SO:0001819	synonymous_variant	54814				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	g.chr19:46202151G>A	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.879G>A	19.37:g.46202151G>A						QPCTL_uc010ekn.2_Silent_p.R199R	p.R293R	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)	5	1100	+		Ovarian(192;0.051)|all_neural(266;0.112)	293					Q53HE4|Q96F74	Silent	SNP	ENST00000012049.5	37	c.879G>A	CCDS12672.1																																																																																				0.607	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		5	66	0	0	0	0.014758	0	5	66				
PEG3	5178	broad.mit.edu	37	19	57328566	57328566	+	Missense_Mutation	SNP	G	G	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr19:57328566G>C	ENST00000326441.9	-	10	1607	c.1244C>G	c.(1243-1245)cCc>cGc	p.P415R	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P415R|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.P289R|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.P291R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	415					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P415R(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACATTCAAAGGGCTTCTTCCT	0.493																																							uc002qnu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1243-1245)CCC>CGC		paternally expressed 3 isoform 1							142.0	143.0	142.0					19																	57328566		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328566G>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1244C>G	19.37:g.57328566G>C	ENSP00000326581:p.Pro415Arg					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.P386R|PEG3_uc002qnv.2_Missense_Mutation_p.P415R|PEG3_uc002qnw.2_Missense_Mutation_p.P291R|PEG3_uc002qnx.2_Missense_Mutation_p.P289R|PEG3_uc010etr.2_Missense_Mutation_p.P415R	p.P415R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1595	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	415					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1244C>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886390	0.51908	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02863	4.13;4.13	4.34	4.34	0.51931	.	0.399441	0.18663	N	0.134673	T	0.09202	0.0227	L	0.34521	1.04	.	.	.	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.87578	0.923;0.923;0.998	T	0.16276	-1.0408	9	0.87932	D	0	-23.3923	15.1579	0.72759	0.0:0.0:1.0:0.0	.	291;415;350	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	R	415;415;385	ENSP00000326581:P415R;ENSP00000403051:P415R	ENSP00000292074:P385R	P	-	2	0	ZIM2	62020378	0.923000	0.31300	0.160000	0.22671	0.990000	0.78478	4.087000	0.57671	2.702000	0.92279	0.650000	0.86243	CCC		0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			22	116	0	0	0	0.014323	0	22	116				
ZNF549	256051	broad.mit.edu	37	19	58048682	58048682	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr19:58048682C>T	ENST00000376233.3	+	4	491	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.H91Y|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	104	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H91Y(1)|p.H104Y(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAAATGCTCATTCTTGTGA	0.512																																							uc002qpb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(310-312)CAT>TAT		zinc finger protein 549							143.0	121.0	128.0					19																	58048682		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58048682C>T	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.310C>T	19.37:g.58048682C>T	ENSP00000365407:p.His104Tyr					ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.H91Y	p.H104Y	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	559	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	104			KRAB.		B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.310C>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	C	4.963	0.178889	0.09443	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.52295	0.67;0.67	2.28	0.0889	0.14456	Krueppel-associated box (1);	.	.	.	.	T	0.18759	0.0450	N	0.04724	-0.175	0.09310	N	1	B;B	0.15719	0.0;0.014	B;B	0.20955	0.001;0.032	T	0.30179	-0.9987	9	0.02654	T	1	.	4.4541	0.11635	0.0:0.655:0.0:0.345	.	104;91	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	Y	91;104	ENSP00000240719:H91Y;ENSP00000365407:H104Y	ENSP00000240719:H91Y	H	+	1	0	ZNF549	62740494	0.000000	0.05858	0.003000	0.11579	0.025000	0.11179	-0.298000	0.08265	0.084000	0.17077	-0.136000	0.14681	CAT		0.512	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		38	50	0	0	0	0.00623	0	38	50				
TPO	7173	broad.mit.edu	37	2	1499824	1499824	+	Silent	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:1499824C>A	ENST00000345913.4	+	12	2161	c.2070C>A	c.(2068-2070)tcC>tcA	p.S690S	TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Silent_p.S690S|TPO_ENST00000382201.3_Silent_p.S633S|TPO_ENST00000329066.4_Silent_p.S690S|TPO_ENST00000349624.3_Silent_p.S517S|TPO_ENST00000346956.3_Silent_p.S690S|TPO_ENST00000382198.1_Silent_p.S517S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	690					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.S690S(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGAAGCACTCCCTGTCTCGGG	0.552																																							uc002qww.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(2068-2070)TCC>TCA		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						82.0	67.0	72.0					2																	1499824		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1499824C>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2070C>A	2.37:g.1499824C>A						TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.S633S|TPO_uc002qwr.2_Silent_p.S690S|TPO_uc002qwx.2_Silent_p.S633S|TPO_uc010yio.1_Silent_p.S517S|TPO_uc010yip.1_Silent_p.S690S|TPO_uc002qwy.1_Silent_p.S30S|TPO_uc002qwz.2_Intron	p.S690S	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	12	2161	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	690			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.2070C>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	3.687	-0.064409	0.07273	.	.	ENSG00000115705	ENST00000446278	.	.	.	4.52	-9.05	0.00730	.	.	.	.	.	T	0.33498	0.0865	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38628	-0.9652	4	.	.	.	-30.8173	1.6998	0.02870	0.196:0.156:0.16:0.488	.	.	.	.	H	165	.	.	P	+	2	0	TPO	1478831	0.034000	0.19679	0.013000	0.15412	0.450000	0.32258	-0.727000	0.04931	-2.056000	0.00898	-1.080000	0.02220	CCC		0.552	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		5	25	1	0	2.7689e-08	0.001984	3.44574e-08	5	25				
DHX57	90957	broad.mit.edu	37	2	39025509	39025509	+	Missense_Mutation	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:39025509C>G	ENST00000295373.6	-	24	4219	c.4093G>C	c.(4093-4095)Gat>Cat	p.D1365H		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1365							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D1365H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTACACAGATCAATGCTTGGG	0.428																																					Melanoma(191;1090 2095 4375 23729 47341)	Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(4093-4095)GAT>CAT		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							160.0	146.0	151.0					2																	39025509		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39025509C>G	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.4093G>C	2.37:g.39025509C>G	ENSP00000295373:p.Asp1365His					DHX57_uc002rrd.3_Missense_Mutation_p.D704H|DHX57_uc002rre.2_Missense_Mutation_p.D798H	p.D1365H	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			24	4192	-		all_hematologic(82;0.248)	1365					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.4093G>C	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.145189|4.145189	0.77888|0.77888	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.03212|.	4.01|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.53938|.	D|.	0.000050|.	T|.	0.78065|.	0.4225|.	M|M	0.77406|0.77406	2.37|2.37	0.80722|0.80722	D|D	1|1	D;P|.	0.89917|.	1.0;0.822|.	D;B|.	0.77004|.	0.989;0.366|.	T|.	0.77576|.	-0.2536|.	10|.	0.59425|.	D|.	0.04|.	.|.	19.192|19.192	0.93671|0.93671	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1365;712|.	Q6P158;Q59G60|.	DHX57_HUMAN;.|.	H|S	1365|643	ENSP00000295373:D1365H|.	ENSP00000295373:D1365H|.	D|X	-|-	1|2	0|2	DHX57|DHX57	38879013|38879013	1.000000|1.000000	0.71417|0.71417	0.900000|0.900000	0.35374|0.35374	0.379000|0.379000	0.30106|0.30106	7.524000|7.524000	0.81866|0.81866	2.716000|2.716000	0.92895|0.92895	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.428	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		4	82	0	0	0	0.009096	0	4	82				
ZAP70	7535	broad.mit.edu	37	2	98354270	98354270	+	Silent	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:98354270C>A	ENST00000264972.5	+	12	1748	c.1533C>A	c.(1531-1533)atC>atA	p.I511I	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.I204I|ZAP70_ENST00000442208.1_Silent_p.I385I	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	511	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.I511I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCGAATGCATCAACTTCCGCA	0.637																																							uc002syd.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(1531-1533)ATC>ATA		zeta-chain associated protein kinase 70kDa							121.0	130.0	127.0					2																	98354270		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98354270C>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1533C>A	2.37:g.98354270C>A						ZAP70_uc002sye.1_Silent_p.I401I|ZAP70_uc002syf.1_Silent_p.I204I	p.I511I	NM_001079	NP_001070	P43403	ZAP70_HUMAN			12	1740	+			511			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.1533C>A	CCDS33254.1																																																																																				0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			21	144	1	0	5.45024e-15	0.01892	7.0164e-15	21	144				
NPHP1	4867	broad.mit.edu	37	2	110904346	110904346	+	Missense_Mutation	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:110904346C>A	ENST00000393272.3	-	14	1598	c.1501G>T	c.(1501-1503)Gtt>Ttt	p.V501F	NPHP1_ENST00000355301.4_Missense_Mutation_p.V383F|NPHP1_ENST00000417665.1_Missense_Mutation_p.V445F|NPHP1_ENST00000316534.4_Missense_Mutation_p.V502F|NPHP1_ENST00000445609.2_Missense_Mutation_p.V446F	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	501					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.V502F(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GGAATAGGAACTCCACTGGCA	0.353																																							uc002tfn.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1501-1503)GTT>TTT		nephrocystin 1 isoform 2							93.0	96.0	95.0					2																	110904346		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110904346C>A	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1501G>T	2.37:g.110904346C>A	ENSP00000376953:p.Val501Phe					NPHP1_uc002tfm.3_Missense_Mutation_p.V446F|NPHP1_uc002tfl.3_Missense_Mutation_p.V502F|NPHP1_uc002tfo.3_Missense_Mutation_p.V383F|NPHP1_uc010ywx.1_Missense_Mutation_p.V445F|NPHP1_uc010fjv.1_Missense_Mutation_p.V445F	p.V501F	NM_207181	NP_997064	O15259	NPHP1_HUMAN			14	1595	-			501					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.1501G>T	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390985	0.42410	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.61158	0.13;0.14;0.14;0.14;0.14	6.04	1.49	0.22878	.	0.452267	0.23987	N	0.042605	T	0.39462	0.1079	N	0.22421	0.69	0.58432	D	0.999999	B;B;P;B;P;P	0.36315	0.411;0.411;0.546;0.411;0.546;0.547	B;B;B;B;B;B	0.38954	0.071;0.148;0.149;0.097;0.149;0.286	T	0.12451	-1.0547	10	0.52906	T	0.07	-7.675	4.631	0.12502	0.0:0.2255:0.1674:0.6071	.	445;445;383;501;446;502	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	F	502;446;501;383;445	ENSP00000313169:V502F;ENSP00000389879:V446F;ENSP00000376953:V501F;ENSP00000347452:V383F;ENSP00000402176:V445F	ENSP00000313169:V502F	V	-	1	0	NPHP1	110261635	1.000000	0.71417	0.843000	0.33291	0.929000	0.56500	0.976000	0.29462	0.041000	0.15688	0.563000	0.77884	GTT		0.353	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		8	103	1	0	3.09899e-07	0.004482	3.77268e-07	8	103				
CNTNAP5	129684	broad.mit.edu	37	2	124783277	124783277	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:124783277G>T	ENST00000431078.1	+	1	414	c.50G>T	c.(49-51)gGc>gTc	p.G17V	AC079154.1_ENST00000438816.1_RNA|CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	17					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.G17V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGTTCTCTGGCTTGTGGCAT	0.512																																							uc002tno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(49-51)GGC>GTC		contactin associated protein-like 5 precursor							109.0	112.0	111.0					2																	124783277		1993	4165	6158	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:124783277G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.50G>T	2.37:g.124783277G>T	ENSP00000399013:p.Gly17Val					CNTNAP5_uc010flu.2_Missense_Mutation_p.G17V	p.G17V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	1	414	+			17					Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.50G>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900264	0.33535	.	.	ENSG00000155052	ENST00000431078	D	0.87029	-2.2	5.43	2.19	0.27852	.	0.129790	0.33959	N	0.004400	T	0.74313	0.3700	N	0.19112	0.55	0.50039	D	0.999847	B	0.02656	0.0	B	0.06405	0.002	T	0.62167	-0.6911	10	0.13470	T	0.59	.	10.5859	0.45282	0.0:0.2436:0.6155:0.1409	.	17	Q8WYK1	CNTP5_HUMAN	V	17	ENSP00000399013:G17V	ENSP00000399013:G17V	G	+	2	0	CNTNAP5	124499747	0.020000	0.18652	0.973000	0.42090	0.974000	0.67602	1.499000	0.35671	0.617000	0.30160	0.561000	0.74099	GGC		0.512	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			7	70	1	0	7.48243e-07	0.006214	8.91523e-07	7	70				
SLC25A12	8604	broad.mit.edu	37	2	172691271	172691271	+	Silent	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:172691271T>C	ENST00000422440.2	-	7	754	c.717A>G	c.(715-717)ctA>ctG	p.L239L	SLC25A12_ENST00000392592.4_Silent_p.L132L	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	239					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)	p.L239L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TTGTGCCAGCTAGAGTGCTAT	0.368																																							uc002uhh.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(715-717)CTA>CTG		solute carrier family 25, member 12	L-Aspartic Acid(DB00128)						133.0	125.0	128.0					2																	172691271		2203	4300	6503	SO:0001819	synonymous_variant	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172691271T>C	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.717A>G	2.37:g.172691271T>C						SLC25A12_uc010fqh.2_Silent_p.L132L|SLC25A12_uc010zdv.1_RNA	p.L239L	NM_003705	NP_003696	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		7	806	-			239					B3KR64|Q96AM8	Silent	SNP	ENST00000422440.2	37	c.717A>G	CCDS33327.1																																																																																				0.368	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		5	114	0	0	0	0.001984	0	5	114				
TTN	7273	broad.mit.edu	37	2	179532416	179532416	+	Intron	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:179532416C>T	ENST00000591111.1	-	153	34489				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E11860K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTACTTTTTCTTCTAGGACT	0.313																																							uc010zfk.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(100-102)GAA>AAA		SubName: Full=Titin; Flags: Fragment;							178.0	191.0	187.0					2																	179532416		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179532416C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34264+2528G>A	2.37:g.179532416C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.E34K			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		6	648	-			11229					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.100G>A		.	.	.	.	.	.	.	.	.	.	C	15.44	2.835486	0.50951	.	.	ENSG00000155657	ENST00000541862;ENST00000392423	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	T	0.65893	0.2735	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57106	-0.7868	7	0.02654	T	1	.	19.2996	0.94138	0.0:1.0:0.0:0.0	.	162	Q71S18	.	K	162;14	.	ENSP00000376219:E14K	E	-	1	0	TTN	179240661	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	3.314000	0.51943	2.664000	0.90586	0.563000	0.77884	GAA		0.313	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	150	0	0	0	0.004482	0	8	150				
TTN	7273	broad.mit.edu	37	2	179577963	179577963	+	Silent	SNP	G	G	T	rs377763876		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:179577963G>T	ENST00000591111.1	-	91	26171	c.25947C>A	c.(25945-25947)atC>atA	p.I8649I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.I8966I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.I7722I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12806	Ig-like 69.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I7722I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCACTACTGATCTCATTTC	0.438																																							uc010zfg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(23164-23166)ATC>ATA		titin isoform N2-A		G	,,,	0,3856		0,0,1928	102.0	92.0	95.0		,23166,,	4.1	1.0	2		95	1,8277		0,1,4138	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6066	TT,TG,GG		0.0121,0.0,0.0082	,,,	,7722/33424,,	179577963	1,12133	1928	4139	6067	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577963G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25947C>A	2.37:g.179577963G>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.I4383I	p.I7722I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		90	23390	-			8649					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.23166C>A																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	29	1	0	0.004672	0.004672	0.00493645	3	29				
COL6A3	1293	broad.mit.edu	37	2	238285691	238285691	+	Missense_Mutation	SNP	C	C	A	rs112827048		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:238285691C>A	ENST00000295550.4	-	7	3246	c.2794G>T	c.(2794-2796)Gct>Tct	p.A932S	COL6A3_ENST00000409809.1_Missense_Mutation_p.A726S|COL6A3_ENST00000353578.4_Missense_Mutation_p.A726S|COL6A3_ENST00000346358.4_Missense_Mutation_p.A732S|COL6A3_ENST00000392003.2_Missense_Mutation_p.A525S|COL6A3_ENST00000347401.3_Missense_Mutation_p.A731S|COL6A3_ENST00000392004.3_Missense_Mutation_p.A726S|COL6A3_ENST00000472056.1_Missense_Mutation_p.A325S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	932	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A932S(1)|p.A726S(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCTGCCAGCAGACTTCACA	0.537																																							uc002vwl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(2794-2796)GCT>TCT		alpha 3 type VI collagen isoform 1 precursor							90.0	77.0	81.0					2																	238285691		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238285691C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2794G>T	2.37:g.238285691C>A	ENSP00000295550:p.Ala932Ser					COL6A3_uc002vwo.2_Missense_Mutation_p.A726S|COL6A3_uc010znj.1_Missense_Mutation_p.A325S|COL6A3_uc002vwq.2_Missense_Mutation_p.A726S|COL6A3_uc002vwr.2_Missense_Mutation_p.A525S|COL6A3_uc010znk.1_Missense_Mutation_p.A732S	p.A932S	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3079	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	932			Nonhelical region.|VWFA 5.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.2794G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	5.044	0.193832	0.09599	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.55	2.66	0.31614	von Willebrand factor, type A (3);	0.120229	0.36703	N	0.002458	T	0.72645	0.3486	N	0.17345	0.48	0.33359	D	0.572128	B;P;B;B;P;B	0.37500	0.058;0.597;0.025;0.026;0.55;0.058	B;P;B;B;B;B	0.46917	0.047;0.531;0.052;0.044;0.172;0.047	T	0.70436	-0.4872	10	0.11485	T	0.65	.	8.4041	0.32603	0.1259:0.7392:0.0:0.1348	.	732;325;525;726;726;932	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	S	932;731;726;325;726;732;726;525	ENSP00000295550:A932S;ENSP00000315609:A731S;ENSP00000315873:A726S;ENSP00000418285:A325S;ENSP00000386844:A726S;ENSP00000295546:A732S;ENSP00000375861:A726S;ENSP00000375860:A525S	ENSP00000295550:A932S	A	-	1	0	COL6A3	237950430	0.153000	0.22777	0.009000	0.14445	0.189000	0.23516	0.711000	0.25764	0.706000	0.31912	0.655000	0.94253	GCT		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		9	50	1	0	0.000274275	0.004482	0.000298241	9	50				
NCOA6	23054	broad.mit.edu	37	20	33345399	33345399	+	Silent	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr20:33345399T>C	ENST00000374796.2	-	8	3722	c.1152A>G	c.(1150-1152)tcA>tcG	p.S384S	NCOA6_ENST00000359003.2_Silent_p.S384S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	384	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.S384S(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						TGTGGGCTTGTGAGGCTTGCT	0.577																																							uc002xav.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(1150-1152)TCA>TCG		nuclear receptor coactivator 6							94.0	88.0	90.0					20																	33345399		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.chr20:33345399T>C	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.1152A>G	20.37:g.33345399T>C						NCOA6_uc002xaw.2_Silent_p.S384S|NCOA6_uc010gew.1_Silent_p.S341S	p.S384S	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			8	3723	-			384			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.1152A>G	CCDS13241.1																																																																																				0.577	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		10	99	0	0	0	0.013537	0	10	99				
TGM2	7052	broad.mit.edu	37	20	36768038	36768038	+	Missense_Mutation	SNP	G	G	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr20:36768038G>C	ENST00000361475.2	-	9	1291	c.1118C>G	c.(1117-1119)cCa>cGa	p.P373R	TGM2_ENST00000536724.1_Missense_Mutation_p.P313R|TGM2_ENST00000536701.1_Missense_Mutation_p.P292R	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	373					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.P373R(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AACTGGAACTGGGCCACAGCA	0.567																																							uc002xhr.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1117-1119)CCA>CGA		transglutaminase 2 isoform a	L-Glutamine(DB00130)						71.0	55.0	60.0					20																	36768038		2203	4300	6503	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36768038G>C	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1118C>G	20.37:g.36768038G>C	ENSP00000355330:p.Pro373Arg					TGM2_uc010zvx.1_Missense_Mutation_p.P292R|TGM2_uc010zvy.1_Missense_Mutation_p.P313R|TGM2_uc002xhs.1_Missense_Mutation_p.P349R|TGM2_uc002xht.2_Missense_Mutation_p.P373R	p.P373R	NM_004613	NP_004604	P21980	TGM2_HUMAN			9	1218	-		Myeloproliferative disorder(115;0.00878)	373					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.1118C>G	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715630	0.89112	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	D;D;D	0.96265	-3.96;-3.96;-3.96	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	H	0.96633	3.855	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99552	1.0966	10	0.87932	D	0	-14.047	17.2979	0.87174	0.0:0.0:1.0:0.0	.	313;292;373;313;373	F5H6P0;B4DIT7;P21980-2;B4DTN7;P21980	.;.;.;.;TGM2_HUMAN	R	373;292;313	ENSP00000355330:P373R;ENSP00000444701:P292R;ENSP00000437479:P313R	ENSP00000355330:P373R	P	-	2	0	TGM2	36201452	1.000000	0.71417	0.955000	0.39395	0.976000	0.68499	9.657000	0.98554	2.558000	0.86282	0.591000	0.81541	CCA		0.567	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		3	27	0	0	0	0.004672	0	3	27				
CDH22	64405	broad.mit.edu	37	20	44839056	44839056	+	Silent	SNP	G	G	A	rs200454892	byFrequency	TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr20:44839056G>A	ENST00000372262.3	-	6	1576	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	CDH22_ENST00000537909.1_Silent_p.P392P|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	392	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P392P(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCCGGAACTCGGGGGGCTCGT	0.741													G|||	2	0.000399361	0.0	0.0	5008	,	,		11852	0.0		0.002	False		,,,				2504	0.0						uc002xrm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1174-1176)CCC>CCT		cadherin 22 precursor		G		7,4301		0,7,2147	8.0	10.0	10.0		1176	1.8	1.0	20		10	66,8354		0,66,4144	no	coding-synonymous	CDH22	NM_021248.1		0,73,6291	AA,AG,GG		0.7838,0.1625,0.5735		392/829	44839056	73,12655	2154	4210	6364	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44839056G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1176C>T	20.37:g.44839056G>A						CDH22_uc010ghk.1_Silent_p.P392P|CDH22_uc002xrn.1_Silent_p.P143P	p.P392P	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			6	1577	-		Myeloproliferative disorder(115;0.0122)	392			Extracellular (Potential).|Cadherin 3.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1176C>T	CCDS13395.1																																																																																				0.741	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		5	3	0	0	0	0.014758	0	5	3				
MTG2	26164	broad.mit.edu	37	20	60770918	60770918	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr20:60770918G>T	ENST00000370823.3	+	3	283	c.265G>T	c.(265-267)Gca>Tca	p.A89S	MTG2_ENST00000436421.2_Missense_Mutation_p.A89S|MTG2_ENST00000536470.1_5'UTR	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	89	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.A89S(1)									AGGCGCTGGGGCAAGCTGCTT	0.567																																							uc002yce.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(265-267)GCA>TCA		GTP binding protein 5							98.0	78.0	84.0					20																	60770918		2203	4300	6503	SO:0001583	missense	26164				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding	g.chr20:60770918G>T	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.265G>T	20.37:g.60770918G>T	ENSP00000359859:p.Ala89Ser					GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_5'UTR|GTPBP5_uc011aaf.1_Missense_Mutation_p.A89S|GTPBP5_uc011aag.1_Missense_Mutation_p.A89S	p.A89S	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.5e-08)		3	303	+	Breast(26;3.52e-09)		89			Localized in the mitocondria.|Not localized in the mitocondria.		A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.265G>T	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.068978	0.55539	.	.	ENSG00000101181	ENST00000436421;ENST00000370823;ENST00000448254	T;T;T	0.21734	1.99;1.99;1.99	5.7	-0.383	0.12477	GTP1/OBG subdomain (3);	1.479880	0.03646	N	0.240269	T	0.15869	0.0382	N	0.22421	0.69	0.09310	N	0.999999	B;B;B	0.30068	0.199;0.267;0.02	B;B;B	0.30495	0.051;0.116;0.042	T	0.32079	-0.9920	10	0.20519	T	0.43	-4.801	10.7905	0.46429	0.5537:0.0:0.4463:0.0	.	89;89;89	Q5JXJ0;E7EU10;Q9H4K7	.;.;GTPB5_HUMAN	S	89	ENSP00000392267:A89S;ENSP00000359859:A89S;ENSP00000414693:A89S	ENSP00000359859:A89S	A	+	1	0	GTPBP5	60204313	0.000000	0.05858	0.000000	0.03702	0.444000	0.32077	0.204000	0.17335	0.038000	0.15604	0.561000	0.74099	GCA		0.567	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		18	31	1	0	1.96292e-10	0.010504	2.49826e-10	18	31				
TCEA2	6919	broad.mit.edu	37	20	62701744	62701744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr20:62701744C>T	ENST00000343484.5	+	7	818	c.649C>T	c.(649-651)Cag>Tag	p.Q217*	TCEA2_ENST00000361317.2_Nonsense_Mutation_p.Q190*|TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	217	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q217*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					AACACCCCAGCAGATCGCTGT	0.612																																							uc011abs.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(649-651)CAG>TAG		transcription elongation factor A protein 2							99.0	84.0	89.0					20																	62701744		2203	4300	6503	SO:0001587	stop_gained	6919				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	g.chr20:62701744C>T	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.649C>T	20.37:g.62701744C>T	ENSP00000343515:p.Gln217*					TCEA2_uc011abr.1_Nonsense_Mutation_p.Q190*|TCEA2_uc010gkq.2_3'UTR|TCEA2_uc010gks.2_Nonsense_Mutation_p.Q218*|TCEA2_uc010gkt.2_3'UTR	p.Q217*	NM_003195	NP_003186	Q15560	TCEA2_HUMAN			7	1305	+	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		217			TFIIS central.		B3KNM1|Q8TD37|Q8TD38	Nonsense_Mutation	SNP	ENST00000343484.5	37	c.649C>T	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961533	0.74016	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	.	.	.	4.14	3.16	0.36331	.	0.436994	0.25047	N	0.033558	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	9.0E-4	7.126	0.25471	0.1718:0.74:0.0:0.0882	.	.	.	.	X	190;217;190;190;190	.	ENSP00000339432:Q190X	Q	+	1	0	TCEA2	62172188	1.000000	0.71417	0.466000	0.27168	0.137000	0.21094	1.986000	0.40677	0.812000	0.34326	0.462000	0.41574	CAG		0.612	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723		4	51	0	0	0	0.009096	0	4	51				
MYO18B	84700	broad.mit.edu	37	22	26423044	26423044	+	Silent	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr22:26423044G>T	ENST00000407587.2	+	43	7276	c.7107G>T	c.(7105-7107)ccG>ccT	p.P2369P	MYO18B_ENST00000335473.7_Silent_p.P2368P|MYO18B_ENST00000536101.1_Silent_p.P2368P			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2368						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P2369P(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGAGCTCTCCGACCACACCCA	0.587																																							uc003abz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(7102-7104)CCG>CCT		myosin XVIIIB							92.0	100.0	97.0					22																	26423044		1991	4169	6160	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423044G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7107G>T	22.37:g.26423044G>T						MYO18B_uc003aca.1_Silent_p.P2249P|MYO18B_uc010guy.1_Silent_p.P2250P|MYO18B_uc010guz.1_Silent_p.P2248P|MYO18B_uc011aka.1_Silent_p.P1522P|MYO18B_uc011akb.1_Silent_p.P1881P|MYO18B_uc010gva.1_Silent_p.P351P|MYO18B_uc010gvb.1_RNA	p.P2368P	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	7354	+			2368					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.7104G>T		.	.	.	.	.	.	.	.	.	.	G	4.036	0.004204	0.07866	.	.	ENSG00000133454	ENST00000543971	.	.	.	5.14	-9.84	0.00479	.	.	.	.	.	T	0.15478	0.0373	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.17561	-1.0365	4	.	.	.	.	2.7969	0.05403	0.3116:0.3476:0.2484:0.0924	.	.	.	.	L	318	.	.	R	+	2	0	MYO18B	24753044	0.000000	0.05858	0.000000	0.03702	0.375000	0.29983	-3.238000	0.00545	-1.324000	0.02272	0.462000	0.41574	CGA		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		10	79	1	0	2.17888e-05	0.006214	2.51582e-05	10	79				
EPHA3	2042	broad.mit.edu	37	3	89390135	89390135	+	Missense_Mutation	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr3:89390135C>A	ENST00000336596.2	+	4	1109	c.884C>A	c.(883-885)tCt>tAt	p.S295Y	EPHA3_ENST00000452448.2_Missense_Mutation_p.S295Y|EPHA3_ENST00000494014.1_Missense_Mutation_p.S295Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	295	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.S295Y(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCTCACAGTTCTACTCAGGAA	0.448										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(883-885)TCT>TAT		ephrin receptor EphA3 isoform a precursor							170.0	163.0	165.0					3																	89390135		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390135C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.884C>A	3.37:g.89390135C>A	ENSP00000337451:p.Ser295Tyr	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Missense_Mutation_p.S295Y|EPHA3_uc010hon.1_RNA	p.S295Y	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1109	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	295			Extracellular (Potential).|Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.884C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	2.027	-0.423309	0.04734	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.17528	2.27;2.27;2.27	6.17	6.17	0.99709	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.206543	0.53938	D	0.000054	T	0.12433	0.0302	N	0.12182	0.205	0.48452	D	0.999659	B;B	0.12013	0.005;0.004	B;B	0.12837	0.008;0.006	T	0.25502	-1.0130	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	295;295	P29320;P29320-2	EPHA3_HUMAN;.	Y	295	ENSP00000337451:S295Y;ENSP00000399926:S295Y;ENSP00000419190:S295Y	.	S	+	2	0	EPHA3	89472825	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	3.633000	0.54295	2.941000	0.99782	0.655000	0.94253	TCT		0.448	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		7	150	1	0	8.12818e-05	0.001984	9.10357e-05	7	150				
CCDC39	339829	broad.mit.edu	37	3	180349366	180349366	+	Missense_Mutation	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr3:180349366T>C	ENST00000442201.2	-	14	2008	c.1889A>G	c.(1888-1890)gAg>gGg	p.E630G	CCDC39_ENST00000273654.4_Missense_Mutation_p.E714G	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	630					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.E630G(1)|p.E714G(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACTTAGCCGCTCGCGAAACTC	0.348																																							uc010hxe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1888-1890)GAG>GGG		coiled-coil domain containing 39							61.0	59.0	60.0					3																	180349366		1819	4085	5904	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180349366T>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1889A>G	3.37:g.180349366T>C	ENSP00000405708:p.Glu630Gly					CCDC39_uc003fkn.2_RNA	p.E630G	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		14	2004	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		630					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1889A>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.890794	0.52014	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	5.19	5.19	0.71726	.	0.217841	0.46442	D	0.000296	T	0.75583	0.3869	M	0.81497	2.545	0.51012	D	0.999905	D	0.63046	0.992	P	0.56434	0.798	T	0.80058	-0.1541	9	0.72032	D	0.01	-7.65	14.3153	0.66446	0.0:0.0:0.0:1.0	.	630	Q9UFE4	CCD39_HUMAN	G	714;630	.	ENSP00000273654:E714G	E	-	2	0	CCDC39	181832060	1.000000	0.71417	0.993000	0.49108	0.561000	0.35649	6.505000	0.73708	2.076000	0.62316	0.533000	0.62120	GAG		0.348	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		17	10	0	0	0	0.00499	0	17	10				
PGM2	55276	broad.mit.edu	37	4	37847254	37847254	+	Splice_Site	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:37847254A>T	ENST00000381967.4	+	8	1010	c.910A>T	c.(910-912)Act>Tct	p.T304S	PGM2_ENST00000537241.1_Splice_Site_p.T144S|PGM2_ENST00000544359.1_Splice_Site_p.T165S	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	304					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)	p.T304S(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TCTTCTTCAGACTTTGTCTTT	0.368																																							uc011byb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(910-912)ACT>TCT		phosphoglucomutase 2							96.0	97.0	96.0					4																	37847254		2203	4300	6503	SO:0001630	splice_region_variant	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37847254A>T	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.910-1A>T	4.37:g.37847254A>T						PGM2_uc011bya.1_Missense_Mutation_p.T165S|PGM2_uc011byc.1_Missense_Mutation_p.T144S	p.T304S	NM_018290	NP_060760	Q96G03	PGM2_HUMAN			8	983	+			304					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.910A>T	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.437920	0.25900	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T;T	0.61859	0.07;0.07;0.07	5.48	5.48	0.80851	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.194636	0.53938	D	0.000049	T	0.47820	0.1466	L	0.35593	1.075	0.52501	D	0.999957	B;B	0.11235	0.004;0.003	B;B	0.19946	0.027;0.016	T	0.37957	-0.9683	9	.	.	.	-16.6041	15.58	0.76425	1.0:0.0:0.0:0.0	.	304;165	Q96G03;B4E0G8	PGM2_HUMAN;.	S	304;165;144	ENSP00000371393:T304S;ENSP00000438025:T165S;ENSP00000437342:T144S	.	T	+	1	0	PGM2	37523649	0.998000	0.40836	1.000000	0.80357	0.671000	0.39405	3.587000	0.53957	2.076000	0.62316	0.533000	0.62120	ACT		0.368	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290	Missense_Mutation	8	127	0	0	0	0.00308	0	8	127				
GABRA4	2557	broad.mit.edu	37	4	46966989	46966989	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:46966989G>T	ENST00000264318.3	-	8	2114	c.1132C>A	c.(1132-1134)Cag>Aag	p.Q378K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	378					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Q378K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TCAAATACCTGCAGAGGGGCT	0.408																																					Ovarian(6;283 369 8234 12290 33402)	Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1132-1134)CAG>AAG		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						69.0	76.0	74.0					4																	46966989		2202	4298	6500	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46966989G>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1132C>A	4.37:g.46966989G>T	ENSP00000264318:p.Gln378Lys						p.Q378K	NM_000809	NP_000800	P48169	GBRA4_HUMAN			8	1271	-			378			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1132C>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	8.161	0.789548	0.16258	.	.	ENSG00000109158	ENST00000264318	D	0.85773	-2.03	4.81	4.81	0.61882	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.657890	0.10449	U	0.673297	T	0.75946	0.3919	L	0.29908	0.895	0.30427	N	0.777584	B	0.27013	0.166	B	0.35770	0.21	T	0.66791	-0.5834	10	0.02654	T	1	.	7.1431	0.25566	0.18:0.0:0.82:0.0	.	378	P48169	GBRA4_HUMAN	K	378	ENSP00000264318:Q378K	ENSP00000264318:Q378K	Q	-	1	0	GABRA4	46661746	0.996000	0.38824	0.997000	0.53966	0.113000	0.19764	2.404000	0.44539	2.481000	0.83766	0.591000	0.81541	CAG		0.408	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			14	74	1	0	3.27435e-08	0.020292	4.02997e-08	14	74				
ATP10D	57205	broad.mit.edu	37	4	47559751	47559751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:47559751G>A	ENST00000273859.3	+	12	2164	c.1895G>A	c.(1894-1896)tGg>tAg	p.W632*	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	632					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.W632*(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCCAGAGATGGTCTGTCCGA	0.448																																							uc003gxk.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1894-1896)TGG>TAG		ATPase, class V, type 10D							57.0	61.0	60.0					4																	47559751		2203	4300	6503	SO:0001587	stop_gained	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47559751G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1895G>A	4.37:g.47559751G>A	ENSP00000273859:p.Trp632*					ATP10D_uc003gxl.1_Intron	p.W632*	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			12	2059	+			632			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Nonsense_Mutation	SNP	ENST00000273859.3	37	c.1895G>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	37	5.980177	0.97168	.	.	ENSG00000145246	ENST00000273859	.	.	.	5.48	4.3	0.51218	.	0.322833	0.30593	N	0.009289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.8253	11.982	0.53125	0.0:0.0:0.1467:0.8533	.	.	.	.	X	632	.	ENSP00000273859:W632X	W	+	2	0	ATP10D	47254508	0.999000	0.42202	0.988000	0.46212	0.042000	0.13812	3.511000	0.53400	0.921000	0.36994	-0.364000	0.07487	TGG		0.448	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		18	51	0	0	0	0.006122	0	18	51				
WDFY3	23001	broad.mit.edu	37	4	85605244	85605244	+	Missense_Mutation	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:85605244T>C	ENST00000295888.4	-	63	9985	c.9578A>G	c.(9577-9579)cAt>cGt	p.H3193R	WDFY3_ENST00000322366.6_Missense_Mutation_p.H3176R	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3193	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.H3193R(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCTCCACACATGGATATATGT	0.493																																							uc003hpd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(9577-9579)CAT>CGT		WD repeat and FYVE domain containing 3 isoform							110.0	96.0	101.0					4																	85605244		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85605244T>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9578A>G	4.37:g.85605244T>C	ENSP00000295888:p.His3193Arg					WDFY3_uc003hpc.2_5'Flank	p.H3193R	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	63	9986	-		Hepatocellular(203;0.114)	3193			WD 3.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9578A>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.411890	0.42817	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.25579	1.79;1.79	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	N	0.20845	0.615	0.80722	D	1	B	0.24258	0.1	B	0.17722	0.019	T	0.07986	-1.0744	10	0.18276	T	0.48	.	16.2644	0.82568	0.0:0.0:0.0:1.0	.	3193	Q8IZQ1	WDFY3_HUMAN	R	3176;3193	ENSP00000318466:H3176R;ENSP00000295888:H3193R	ENSP00000295888:H3193R	H	-	2	0	WDFY3	85824268	1.000000	0.71417	0.981000	0.43875	0.452000	0.32318	7.698000	0.84413	2.244000	0.73946	0.528000	0.53228	CAT		0.493	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		13	22	0	0	0	0.013537	0	13	22				
PTPN13	5783	broad.mit.edu	37	4	87696609	87696609	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:87696609G>T	ENST00000411767.2	+	35	5758	c.5695G>T	c.(5695-5697)Gga>Tga	p.G1899*	PTPN13_ENST00000316707.6_Nonsense_Mutation_p.G1708*|PTPN13_ENST00000436978.1_Nonsense_Mutation_p.G1904*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.G1904*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.G1880*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1899	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.G1904*(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTCCTTATGTGGAGGTCATGA	0.338																																							uc003hpz.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.(5695-5697)GGA>TGA		protein tyrosine phosphatase, non-receptor type							86.0	80.0	82.0					4																	87696609		1923	4142	6065	SO:0001587	stop_gained	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87696609G>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5695G>T	4.37:g.87696609G>T	ENSP00000407249:p.Gly1899*					PTPN13_uc003hpy.2_Nonsense_Mutation_p.G1904*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.G1880*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.G1708*|PTPN13_uc003hqc.1_Nonsense_Mutation_p.G265*	p.G1899*	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	35	6175	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1899			PDZ 5.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	ENST00000411767.2	37	c.5695G>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	49	15.328782	0.99830	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.15	5.15	0.70609	.	0.138088	0.32785	N	0.005646	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1621	0.86806	0.0:0.0:1.0:0.0	.	.	.	.	X	1880;1904;1708;1899;1904;1848	.	ENSP00000322675:G1708X	G	+	1	0	PTPN13	87915633	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	8.500000	0.90498	2.552000	0.86080	0.460000	0.39030	GGA		0.338	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			3	17	1	0	0.004672	0.004672	0.00493645	3	17				
SGMS2	166929	broad.mit.edu	37	4	108831634	108831634	+	Silent	SNP	T	T	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:108831634T>G	ENST00000394684.4	+	7	1580	c.1023T>G	c.(1021-1023)ccT>ccG	p.P341P	SGMS2_ENST00000394686.3_Silent_p.P341P|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Silent_p.P341P	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	341					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.P341P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		CTTGGCCTCCTGGCTGCTTCA	0.443																																							uc003hyl.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1021-1023)CCT>CCG		sphingomyelin synthase 2	Choline(DB00122)						59.0	61.0	61.0					4																	108831634		2203	4300	6503	SO:0001819	synonymous_variant	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108831634T>G	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.1023T>G	4.37:g.108831634T>G						uc003hym.1_Intron|SGMS2_uc003hyn.2_Silent_p.P341P|SGMS2_uc003hyo.2_Silent_p.P341P	p.P341P	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	7	1578	+			341			Cytoplasmic (Potential).		A8K2S9|B2RA61	Silent	SNP	ENST00000394684.4	37	c.1023T>G	CCDS3677.1																																																																																				0.443	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621		7	33	0	0	0	0.001984	0	7	33				
FSTL5	56884	broad.mit.edu	37	4	162307279	162307279	+	Missense_Mutation	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:162307279T>C	ENST00000306100.5	-	16	2600	c.2164A>G	c.(2164-2166)Acc>Gcc	p.T722A	FSTL5_ENST00000379164.4_Missense_Mutation_p.T721A|FSTL5_ENST00000536695.1_Missense_Mutation_p.T721A|FSTL5_ENST00000427802.2_Missense_Mutation_p.T712A|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	722						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T722A(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCTCTGATGGTAATGTACTGA	0.413																																							uc003iqh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(2164-2166)ACC>GCC		follistatin-like 5 isoform a							96.0	90.0	92.0					4																	162307279		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307279T>C	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2164A>G	4.37:g.162307279T>C	ENSP00000305334:p.Thr722Ala					FSTL5_uc003iqi.2_Missense_Mutation_p.T721A|FSTL5_uc010iqv.2_Missense_Mutation_p.T712A|uc010iqu.1_RNA	p.T722A	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2600	-	all_hematologic(180;0.24)		722					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2164A>G	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.994334	0.54041	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.94	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);	0.152919	0.64402	D	0.000013	T	0.26702	0.0653	M	0.67700	2.07	0.35751	D	0.819465	B;B;B	0.32324	0.212;0.364;0.061	B;B;B	0.35727	0.137;0.209;0.045	T	0.24764	-1.0151	10	0.66056	D	0.02	.	5.4178	0.16384	0.2863:0.0722:0.0:0.6415	.	712;721;722	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	A	722;721;712;721	ENSP00000305334:T722A;ENSP00000368462:T721A;ENSP00000389270:T712A;ENSP00000440409:T721A	ENSP00000305334:T722A	T	-	1	0	FSTL5	162526729	0.994000	0.37717	0.806000	0.32338	0.934000	0.57294	2.400000	0.44504	0.484000	0.27630	0.533000	0.62120	ACC		0.413	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		18	44	0	0	0	0.00499	0	18	44				
FSTL5	56884	broad.mit.edu	37	4	162307290	162307290	+	Missense_Mutation	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:162307290A>T	ENST00000306100.5	-	16	2589	c.2153T>A	c.(2152-2154)gTt>gAt	p.V718D	FSTL5_ENST00000379164.4_Missense_Mutation_p.V717D|FSTL5_ENST00000536695.1_Missense_Mutation_p.V717D|FSTL5_ENST00000427802.2_Missense_Mutation_p.V708D|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	718						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.V718D(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATGTACTGAACCCTTACAAG	0.423																																							uc003iqh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(2152-2154)GTT>GAT		follistatin-like 5 isoform a							106.0	98.0	100.0					4																	162307290		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307290A>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2153T>A	4.37:g.162307290A>T	ENSP00000305334:p.Val718Asp					FSTL5_uc003iqi.2_Missense_Mutation_p.V717D|FSTL5_uc010iqv.2_Missense_Mutation_p.V708D|uc010iqu.1_RNA	p.V718D	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2589	-	all_hematologic(180;0.24)		718					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2153T>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234958	0.79800	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);	0.184388	0.49916	D	0.000128	T	0.49081	0.1536	M	0.64404	1.975	0.80722	D	1	D;D;D	0.69078	0.977;0.997;0.987	P;D;P	0.72982	0.836;0.979;0.905	T	0.49244	-0.8960	10	0.87932	D	0	.	15.5743	0.76362	1.0:0.0:0.0:0.0	.	708;717;718	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	D	718;717;708;717	ENSP00000305334:V718D;ENSP00000368462:V717D;ENSP00000389270:V708D;ENSP00000440409:V717D	ENSP00000305334:V718D	V	-	2	0	FSTL5	162526740	1.000000	0.71417	0.986000	0.45419	0.895000	0.52256	8.742000	0.91588	2.267000	0.75376	0.533000	0.62120	GTT		0.423	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		16	42	0	0	0	0.003163	0	16	42				
FAT1	2195	broad.mit.edu	37	4	187519168	187519168	+	Missense_Mutation	SNP	C	C	A	rs367812758		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:187519168C>A	ENST00000441802.2	-	23	12424	c.12215G>T	c.(12214-12216)gGa>gTa	p.G4072V	FAT1_ENST00000512347.1_5'UTR	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4072	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4072V(1)|p.G4075V(1)|p.G4075E(1)|p.G4072E(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AACAAAGCCTCCGTTGTCGAC	0.413										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(12214-12216)GGA>GTA		FAT tumor suppressor 1 precursor							68.0	65.0	66.0					4																	187519168		1886	4123	6009	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187519168C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12215G>T	4.37:g.187519168C>A	ENSP00000406229:p.Gly4072Val	HNSCC(5;0.00058)				FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_5'Flank	p.G4072V	NM_005245	NP_005236	Q14517	FAT1_HUMAN			23	12403	-			4072			Extracellular (Potential).|EGF-like 3.			Missense_Mutation	SNP	ENST00000441802.2	37	c.12215G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280521	0.59758	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000507105	D	0.99766	-6.69	5.31	5.31	0.75309	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.262703	0.41396	D	0.000885	D	0.99133	0.9701	M	0.79693	2.465	0.80722	D	1	B	0.34181	0.44	B	0.36289	0.221	D	0.96812	0.9597	10	0.28530	T	0.3	.	6.366	0.21455	0.0:0.7918:0.0:0.2082	.	4072	Q14517	FAT1_HUMAN	V	4072;4074;4	ENSP00000406229:G4072V	ENSP00000260147:G4074V	G	-	2	0	FAT1	187756162	0.984000	0.35163	0.995000	0.50966	0.260000	0.26232	2.389000	0.44407	2.779000	0.95612	0.655000	0.94253	GGA		0.413	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		10	47	1	0	7.48243e-07	0.006214	8.91523e-07	10	47				
SLC1A3	6507	broad.mit.edu	37	5	36671141	36671141	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr5:36671141G>A	ENST00000265113.4	+	4	806	c.330G>A	c.(328-330)gcG>gcA	p.A110A	SLC1A3_ENST00000381918.3_Silent_p.A110A|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	110					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.A110A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAATGGCGGCGCTAGATAGTA	0.453																																							uc003jkj.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(328-330)GCG>GCA		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						75.0	69.0	71.0					5																	36671141		2203	4300	6503	SO:0001819	synonymous_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36671141G>A		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.330G>A	5.37:g.36671141G>A						SLC1A3_uc011cox.1_Silent_p.A3A|SLC1A3_uc010iuy.2_Silent_p.A110A	p.A110A	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	806	+	all_lung(31;0.000245)		110			Helical; (Potential).		B2R5T3|Q4JCQ8	Silent	SNP	ENST00000265113.4	37	c.330G>A	CCDS3919.1																																																																																				0.453	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		4	39	0	0	0	0.014758	0	4	39				
CDK7	1022	broad.mit.edu	37	5	68558042	68558042	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr5:68558042G>A	ENST00000256443.3	+	8	641	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	CDK7_ENST00000502604.1_Missense_Mutation_p.A87T|CDK7_ENST00000514676.1_Missense_Mutation_p.A143T|CDK7_ENST00000513629.1_3'UTR	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)	p.A180T(1)		endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		GTGGTATCGGGCCCCCGAGTT	0.403								Nucleotide excision repair (NER)																															uc003jvs.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(538-540)GCC>ACC	NER	cyclin-dependent kinase 7							207.0	193.0	198.0					5																	68558042		2203	4300	6503	SO:0001583	missense	1022				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68558042G>A		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.538G>A	5.37:g.68558042G>A	ENSP00000256443:p.Ala180Thr					CDK7_uc003jvt.3_Missense_Mutation_p.A139T|CDK7_uc003jvu.3_Missense_Mutation_p.A87T	p.A180T	NM_001799	NP_001790	P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	8	719	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	180			Protein kinase.		Q9BS60|Q9UE19	Missense_Mutation	SNP	ENST00000256443.3	37	c.538G>A	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258476	0.80246	.	.	ENSG00000134058	ENST00000506563;ENST00000256443;ENST00000514676;ENST00000502604	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.63	4.63	0.57726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.107148	0.64402	D	0.000005	D	0.83695	0.5310	H	0.97962	4.115	0.50813	D	0.999899	P;D	0.53619	0.664;0.961	P;P	0.59221	0.7;0.854	D	0.88718	0.3227	10	0.87932	D	0	.	11.8387	0.52342	0.0:0.0:0.8247:0.1753	.	143;180	D6RAD4;P50613	.;CDK7_HUMAN	T	87;180;143;87	ENSP00000425043:A87T;ENSP00000256443:A180T;ENSP00000422737:A143T;ENSP00000422121:A87T	ENSP00000256443:A180T	A	+	1	0	CDK7	68593798	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.627000	0.46469	2.282000	0.76494	0.563000	0.77884	GCC		0.403	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799		12	145	0	0	0	0.013537	0	12	145				
ARAP3	64411	broad.mit.edu	37	5	141049581	141049581	+	Silent	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr5:141049581T>C	ENST00000239440.4	-	15	2222	c.2157A>G	c.(2155-2157)gcA>gcG	p.A719A	ARAP3_ENST00000513878.1_Silent_p.A381A|ARAP3_ENST00000508305.1_Silent_p.A621A	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	719					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A719A(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGTTTTCCGATGCAAACATTT	0.587																																							uc003llm.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(1)|large_intestine(1)	7						c.(2155-2157)GCA>GCG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							59.0	64.0	62.0					5																	141049581		2203	4300	6503	SO:0001819	synonymous_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049581T>C	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2157A>G	5.37:g.141049581T>C						ARAP3_uc011dbe.1_Silent_p.A381A|ARAP3_uc003lln.2_Silent_p.A621A	p.A719A	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			15	2235	-			719					B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	37	c.2157A>G	CCDS4266.1																																																																																				0.587	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		7	35	0	0	0	0.00308	0	7	35				
SLC35B3	51000	broad.mit.edu	37	6	8419843	8419843	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:8419843C>T	ENST00000379660.4	-	7	1199	c.750G>A	c.(748-750)atG>atA	p.M250I	SLC35B3_ENST00000339306.5_Missense_Mutation_p.M250I	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	250					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.M250I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TATGAAGTTTCATAGCTTTCT	0.318																																					Melanoma(83;700 1353 9357 11478 30548)	Melanoma(83;700 1353 9357 11478 30548)	uc010joe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(748-750)ATG>ATA		solute carrier family 35, member B3							80.0	85.0	84.0					6																	8419843		2203	4299	6502	SO:0001583	missense	51000				transmembrane transport	Golgi membrane|integral to membrane		g.chr6:8419843C>T	AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.750G>A	6.37:g.8419843C>T	ENSP00000368981:p.Met250Ile					SLC35B3_uc003mya.2_Missense_Mutation_p.M218I|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Missense_Mutation_p.M250I|SLC35B3_uc011did.1_Missense_Mutation_p.M250I|SLC35B3_uc003myd.2_RNA	p.M250I	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN			7	916	-	Ovarian(93;0.0569)		250					A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	ENST00000379660.4	37	c.750G>A	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116047	0.94339	.	.	ENSG00000124786	ENST00000379660;ENST00000339306	T;T	0.29397	1.57;1.57	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	M	0.86805	2.84	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.73380	0.968;0.98	T	0.60999	-0.7151	9	.	.	.	-29.0744	19.775	0.96388	0.0:1.0:0.0:0.0	.	250;250	Q9H1N7;B2R8V5	S35B3_HUMAN;.	I	250	ENSP00000368981:M250I;ENSP00000345902:M250I	.	M	-	3	0	SLC35B3	8364842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.645000	0.83430	2.741000	0.93983	0.585000	0.79938	ATG		0.318	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948		5	93	0	0	0	0.001984	0	5	93				
NKAPL	222698	broad.mit.edu	37	6	28227351	28227351	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:28227351C>T	ENST00000343684.3	+	1	254	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	68								p.R68C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CCCCTTTAGTCGCTCTGGGTC	0.612																																							uc003nkt.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(202-204)CGC>TGC		NFKB activating protein-like							53.0	58.0	56.0					6																	28227351		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227351C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.202C>T	6.37:g.28227351C>T	ENSP00000345716:p.Arg68Cys					ZKSCAN4_uc011dlb.1_5'Flank	p.R68C	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	254	+			68					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.202C>T	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066523	0.36470	.	.	ENSG00000189134	ENST00000343684	T	0.16597	2.33	4.58	-1.88	0.07713	.	0.364526	0.25400	N	0.030950	T	0.06917	0.0176	M	0.73962	2.25	0.20703	N	0.999862	D	0.63880	0.993	B	0.44315	0.446	T	0.17684	-1.0361	10	0.87932	D	0	1.5179	0.8461	0.01161	0.2894:0.2491:0.2836:0.1779	.	68	Q5M9Q1	NKAPL_HUMAN	C	68	ENSP00000345716:R68C	ENSP00000345716:R68C	R	+	1	0	NKAPL	28335330	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.023000	0.01438	-0.251000	0.09542	-0.152000	0.13540	CGC		0.612	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			5	62	0	0	0	0.014758	0	5	62				
TCTE1	202500	broad.mit.edu	37	6	44250096	44250096	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:44250096G>A	ENST00000371505.4	-	4	1169	c.1047C>T	c.(1045-1047)ccC>ccT	p.P349P	TCTE1_ENST00000371503.3_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	349								p.P349P(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTGGGCACCGGGTGCACGCA	0.602																																							uc003oxi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1045-1047)CCC>CCT		t-complex-associated testis expressed 1							209.0	172.0	185.0					6																	44250096		2203	4300	6503	SO:0001819	synonymous_variant	202500							g.chr6:44250096G>A	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1047C>T	6.37:g.44250096G>A						SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.P349P	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1203	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		349			LRR 2.		B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	c.1047C>T	CCDS4910.1																																																																																				0.602	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		7	119	0	0	0	0.006214	0	7	119				
MYO6	4646	broad.mit.edu	37	6	76623792	76623792	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:76623792C>T	ENST00000369977.3	+	34	3591	c.3452C>T	c.(3451-3453)cCa>cTa	p.P1151L	MYO6_ENST00000369975.1_Missense_Mutation_p.P1119L|MYO6_ENST00000369985.4_Missense_Mutation_p.P1128L|MYO6_ENST00000369981.3_Missense_Mutation_p.P1152L	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1160					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.P1151L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGCAAAACCCAGCAGCTCAG	0.458																																							uc003pih.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)|pancreas(1)	2						c.(3451-3453)CCA>CTA		myosin VI							70.0	73.0	72.0					6																	76623792		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76623792C>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3452C>T	6.37:g.76623792C>T	ENSP00000358994:p.Pro1151Leu					MYO6_uc003pii.1_Missense_Mutation_p.P1128L|MYO6_uc003pij.1_Missense_Mutation_p.P99L	p.P1151L	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	34	3731	+		all_hematologic(105;0.189)	1160					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.3452C>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309575	0.60414	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;T;D	0.89196	-2.44;-2.48;-0.91;-2.47	5.96	5.96	0.96718	.	0.372336	0.30695	N	0.009079	D	0.90642	0.7065	L	0.33245	0.995	0.80722	D	1	B;D	0.76494	0.069;0.999	B;D	0.77557	0.082;0.99	D	0.89701	0.3905	10	0.45353	T	0.12	.	20.3928	0.98949	0.0:1.0:0.0:0.0	.	1128;1151	Q9UM54-2;Q9UM54-1	.;.	L	1161;1152;1128;1151;1119	ENSP00000358998:P1152L;ENSP00000359002:P1128L;ENSP00000358994:P1151L;ENSP00000358992:P1119L	ENSP00000358992:P1119L	P	+	2	0	MYO6	76680512	1.000000	0.71417	0.968000	0.41197	0.329000	0.28539	5.755000	0.68750	2.813000	0.96785	0.655000	0.94253	CCA		0.458	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		15	50	0	0	0	0.003163	0	15	50				
UTRN	7402	broad.mit.edu	37	6	145124171	145124171	+	Splice_Site	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:145124171G>T	ENST00000367545.3	+	64	9245		c.e64-1		UTRN_ENST00000367526.4_Splice_Site	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTTTTCTCTAGGTATAGAAGC	0.318																																							uc003qkt.2		NA																	1	Unknown(1)		lung(1)	ovary(4)|pancreas(1)	5						c.e64-1		utrophin							86.0	84.0	85.0					6																	145124171		2203	4299	6502	SO:0001630	splice_region_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145124171G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9246-1G>T	6.37:g.145124171G>T							p.R3082_splice	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	64	9338	+		Ovarian(120;0.218)						Q5SYY1|Q5SZ57|Q9UJ40	Splice_Site	SNP	ENST00000367545.3	37	c.9246_splice	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429989	0.83776	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000367524;ENST00000545166;ENST00000432686;ENST00000417142;ENST00000455022	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTRN	145165864	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.810000	0.99221	2.836000	0.97738	0.655000	0.94253	.		0.318	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		Intron	38	38	1	0	6.97489e-18	0.021022	9.08357e-18	38	38				
SFRP4	6424	broad.mit.edu	37	7	37953843	37953843	+	Silent	SNP	T	T	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:37953843T>A	ENST00000436072.2	-	3	941	c.564A>T	c.(562-564)gcA>gcT	p.A188A	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	188	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A188A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGAGATACGTTGCCAAAGTTG	0.408																																							uc003tfo.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(562-564)GCA>GCT		secreted frizzled-related  protein 4 precursor							146.0	138.0	141.0					7																	37953843		2203	4300	6503	SO:0001819	synonymous_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37953843T>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.564A>T	7.37:g.37953843T>A							p.A188A	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			3	950	-			188			NTR.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	c.564A>T	CCDS5453.1																																																																																				0.408	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		10	149	0	0	0	0.010729	0	10	149				
HECW1	23072	broad.mit.edu	37	7	43360276	43360276	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:43360276G>A	ENST00000395891.2	+	5	1000	c.395G>A	c.(394-396)gGa>gAa	p.G132E	HECW1_ENST00000453890.1_Missense_Mutation_p.G132E	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	132					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G132E(1)|p.G111E(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AAAAACCGTGGAGTCAATGGT	0.448																																							uc003tid.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(394-396)GGA>GAA		NEDD4-like ubiquitin-protein ligase 1							128.0	124.0	125.0					7																	43360276		1900	4126	6026	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43360276G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.395G>A	7.37:g.43360276G>A	ENSP00000379228:p.Gly132Glu					HECW1_uc011kbi.1_Missense_Mutation_p.G132E|HECW1_uc003tie.1_Missense_Mutation_p.G164E	p.G132E	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			5	1000	+			132					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.395G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	35	5.429262	0.96131	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.42900	0.96;0.96	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.67126	0.2860	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.67542	-0.5644	10	0.87932	D	0	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	132;164;132	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	E	132;132;131	ENSP00000379228:G132E;ENSP00000407774:G132E	ENSP00000265522:G131E	G	+	2	0	HECW1	43326801	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.696000	0.98695	2.820000	0.97059	0.650000	0.86243	GGA		0.448	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		9	62	0	0	0	0.010729	0	9	62				
HECW1	23072	broad.mit.edu	37	7	43360301	43360301	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:43360301G>A	ENST00000395891.2	+	5	1025	c.420G>A	c.(418-420)caG>caA	p.Q140Q	HECW1_ENST00000453890.1_Silent_p.Q140Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	140					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q119Q(1)|p.Q140Q(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATCGGGGCCAGATCATCTGGA	0.458																																							uc003tid.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(418-420)CAG>CAA		NEDD4-like ubiquitin-protein ligase 1							131.0	129.0	130.0					7																	43360301		1928	4132	6060	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43360301G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.420G>A	7.37:g.43360301G>A						HECW1_uc011kbi.1_Silent_p.Q140Q|HECW1_uc003tie.1_Silent_p.Q172Q	p.Q140Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			5	1025	+			140					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.420G>A	CCDS5469.2																																																																																				0.458	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		11	65	0	0	0	0.016723	0	11	65				
CROT	54677	broad.mit.edu	37	7	87011405	87011405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:87011405C>T	ENST00000331536.3	+	12	1263	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	CROT_ENST00000419147.2_Nonsense_Mutation_p.R388*|CROT_ENST00000442291.1_Nonsense_Mutation_p.R360*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	360					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.R360*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AGAGAAGGTACGAGATATACC	0.333																																							uc003uit.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1078-1080)CGA>TGA		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						71.0	71.0	71.0					7																	87011405		2203	4298	6501	SO:0001587	stop_gained	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87011405C>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1078C>T	7.37:g.87011405C>T	ENSP00000331981:p.Arg360*					CROT_uc003uiu.2_Nonsense_Mutation_p.R388*	p.R360*	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			12	1323	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		360					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Nonsense_Mutation	SNP	ENST00000331536.3	37	c.1078C>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	C	36	5.967927	0.97156	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	.	.	.	5.3	3.35	0.38373	.	0.050950	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6886	14.9421	0.71003	0.3345:0.6655:0.0:0.0	.	.	.	.	X	388;360;360	.	ENSP00000331981:R360X	R	+	1	2	CROT	86849341	0.945000	0.32115	0.865000	0.33974	0.949000	0.60115	1.429000	0.34903	1.334000	0.45468	0.467000	0.42956	CGA		0.333	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		22	86	0	0	0	0.012319	0	22	86				
CSMD1	64478	broad.mit.edu	37	8	3224649	3224649	+	Missense_Mutation	SNP	G	G	A	rs147113316		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr8:3224649G>A	ENST00000520002.1	-	21	3578	c.3023C>T	c.(3022-3024)aCg>aTg	p.T1008M	CSMD1_ENST00000537824.1_Missense_Mutation_p.T1007M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1008M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T1008M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T1008M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T1007M|CSMD1_ENST00000539096.1_Missense_Mutation_p.T1007M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1008	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.T736M(1)|p.T1007M(1)		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)		TGCCTTGATCGTATGAGGCAA	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		17922	0.0		0.001	False		,,,				2504	0.0						uc011kwk.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(3022-3024)ACG>ATG		CUB and Sushi multiple domains 1 precursor							72.0	75.0	74.0					8																	3224649		1892	4116	6008	SO:0001583	missense	64478					integral to membrane		g.chr8:3224649G>A			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.3023C>T	8.37:g.3224649G>A	ENSP00000430733:p.Thr1008Met					CSMD1_uc011kwj.1_Missense_Mutation_p.T400M|CSMD1_uc003wqe.2_Missense_Mutation_p.T164M	p.T1008M	NM_033225	NP_150094	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)	20	3413	-		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)	1008			Extracellular (Potential).|CUB 6.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3023C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.57	2.277114	0.40294	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.09	5.09	0.68999	CUB (5);	0.066697	0.64402	D	0.000012	T	0.41236	0.1150	L	0.42581	1.335	0.38160	D	0.939018	D;D;D	0.89917	1.0;0.994;0.978	D;D;P	0.91635	0.999;0.909;0.796	T	0.39099	-0.9630	10	0.62326	D	0.03	.	18.4811	0.90812	0.0:0.0:1.0:0.0	.	1008;1008;1008	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	M	1008;1008;870;1007;1007;1007	ENSP00000383047:T1008M;ENSP00000430733:T1008M;ENSP00000441462:T1007M;ENSP00000446243:T1007M;ENSP00000441675:T1007M	ENSP00000320445:T870M	T	-	2	0	CSMD1	3212056	0.997000	0.39634	0.105000	0.21289	0.062000	0.15995	5.231000	0.65327	2.366000	0.80165	0.455000	0.32223	ACG		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	24	0	0	0	0.001168	0	5	24				
PRKDC	5591	broad.mit.edu	37	8	48689545	48689545	+	Splice_Site	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr8:48689545C>G	ENST00000523565.1	-	85	12098		c.e85-1		PRKDC_ENST00000338368.3_Splice_Site|PRKDC_ENST00000314191.2_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.?(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTTCAAAATTCTAGAAGAAAA	0.328								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	2	Unknown(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.e86-1	NHEJ	protein kinase, DNA-activated, catalytic							100.0	92.0	95.0					8																	48689545		1804	4070	5874	SO:0001630	splice_region_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48689545C>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.1411-1G>C	8.37:g.48689545C>G						PRKDC_uc003xqj.2_Splice_Site_p.N3984_splice|PRKDC_uc011ldh.1_Intron	p.N4015_splice	NM_006904	NP_008835	P78527	PRKDC_HUMAN			86	12100	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)						P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	ENST00000523565.1	37	c.12043_splice		.	.	.	.	.	.	.	.	.	.	C	20.5	4.006321	0.74932	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2007	0.89836	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48852098	1.000000	0.71417	0.998000	0.56505	0.871000	0.50021	7.424000	0.80242	2.801000	0.96364	0.650000	0.86243	.		0.328	PRKDC-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000377896.1	NM_001081640	Intron	26	65	0	0	0	0.013726	0	26	65				
CDKN2A	1029	broad.mit.edu	37	9	21971025	21971025	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr9:21971025G>A	ENST00000304494.5	-	2	603	c.333C>T	c.(331-333)ggC>ggT	p.G111G	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P126S|CDKN2A_ENST00000446177.1_Silent_p.G111G|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P167S|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Silent_p.G60G|CDKN2A_ENST00000497750.1_Silent_p.G60G|CDKN2A_ENST00000494262.1_Silent_p.G60G|CDKN2A_ENST00000498628.2_Silent_p.G60G|CDKN2A_ENST00000479692.2_Silent_p.G60G|CDKN2A_ENST00000498124.1_Silent_p.G111G|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P126S|CDKN2A_ENST00000579122.1_Silent_p.G111G	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	111					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.G111G(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.P167S(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGCAGACGGCCCCAGGCAT	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																													uc003zpk.2		17																	1370	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(6)|Substitution - coding silent(3)|Substitution - Missense(1)	p.0?(1112)|p.?(13)|p.H83fs*2(2)|p.D105fs*8(1)|p.G111G(1)|p.G111D(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(50)|ovary(36)|pancreas(33)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(331-333)GGC>GGT		cyclin-dependent kinase inhibitor 2A isoform 1							19.0	21.0	20.0					9																	21971025		2199	4296	6495	SO:0001819	synonymous_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971025G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.333C>T	9.37:g.21971025G>A		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P167S	p.G111G	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	545	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	111			ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Silent	SNP	ENST00000304494.5	37	c.333C>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	9.798	1.179642	0.21787	.	.	ENSG00000147889	ENST00000361570;ENST00000530628	T;T	0.74737	-0.87;-0.78	5.93	1.52	0.23074	.	0.500602	0.15140	N	0.278330	T	0.56108	0.1963	.	.	.	0.30818	N	0.738089	B	0.17465	0.022	B	0.15052	0.012	T	0.49051	-0.8979	9	0.15952	T	0.53	-18.1367	9.7777	0.40630	0.3972:0.0:0.6028:0.0	.	167	Q8N726	CD2A2_HUMAN	S	167;126	ENSP00000355153:P167S;ENSP00000432664:P126S	ENSP00000355153:P167S	P	-	1	0	CDKN2A	21961025	0.998000	0.40836	1.000000	0.80357	0.964000	0.63967	0.471000	0.22100	0.403000	0.25479	0.655000	0.94253	CCG		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		5	5	0	0	0	0.014758	0	5	5				
VPS13A	23230	broad.mit.edu	37	9	79955320	79955320	+	Splice_Site	SNP	G	G	T	rs199538065		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr9:79955320G>T	ENST00000360280.3	+	50	7140	c.6880G>T	c.(6880-6882)Gtt>Ttt	p.V2294F	VPS13A_ENST00000376634.4_Splice_Site_p.V2294F|VPS13A_ENST00000357409.5_Splice_Site_p.V2294F|VPS13A_ENST00000376636.3_Splice_Site_p.V2255F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2294					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.V2294F(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTTTCTTAGGTTGGTGTCAC	0.244																																							uc004akr.2		NA																	3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(6880-6882)GTT>TTT		vacuolar protein sorting 13A isoform A							56.0	59.0	58.0					9																	79955320		2203	4296	6499	SO:0001630	splice_region_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79955320G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6880-1G>T	9.37:g.79955320G>T						VPS13A_uc004akp.3_Missense_Mutation_p.V2294F|VPS13A_uc004akq.3_Missense_Mutation_p.V2294F|VPS13A_uc004aks.2_Missense_Mutation_p.V2255F	p.V2294F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			50	7140	+			2294					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.6880G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591261	0.86851	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.6	5.6	0.85130	Vacuolar protein sorting-associated protein (1);	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	M	0.69523	2.12	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.996;1.0	D;D;D;D	0.79108	0.986;0.987;0.911;0.992	T	0.58137	-0.7689	9	.	.	.	.	19.9801	0.97322	0.0:0.0:1.0:0.0	.	2255;2294;2294;2294	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	2294;2255;2294;2294	ENSP00000365821:V2294F;ENSP00000365823:V2255F;ENSP00000353422:V2294F;ENSP00000349985:V2294F	.	V	+	1	0	VPS13A	79145140	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.659000	0.91116	2.808000	0.96608	0.650000	0.86243	GTT		0.244	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	Missense_Mutation	4	45	1	0	4.096e-09	0.001168	5.15452e-09	4	45				
ENG	2022	broad.mit.edu	37	9	130588861	130588861	+	Missense_Mutation	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr9:130588861C>G	ENST00000373203.4	-	4	851	c.451G>C	c.(451-453)Gct>Cct	p.A151P	ENG_ENST00000480266.1_5'Flank|ENG_ENST00000344849.3_Missense_Mutation_p.A151P	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	151	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)	p.A151P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CCCCTCTCAGCTGCCCACTCA	0.622									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																														uc004bsj.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(451-453)GCT>CCT		endoglin isoform 1 precursor							62.0	60.0	61.0					9																	130588861		2203	4300	6503	SO:0001583	missense	2022	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130588861C>G	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.451G>C	9.37:g.130588861C>G	ENSP00000362299:p.Ala151Pro					ENG_uc011mam.1_5'UTR|ENG_uc004bsk.3_Missense_Mutation_p.A151P	p.A151P	NM_001114753	NP_001108225	P17813	EGLN_HUMAN			4	864	-			151			Extracellular (Potential).		Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	c.451G>C	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683458	0.29872	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345	T;T	0.47177	0.85;1.43	4.79	1.9	0.25705	.	0.905112	0.09471	N	0.797717	T	0.36771	0.0979	L	0.44542	1.39	0.09310	N	0.999993	P;P	0.49961	0.93;0.93	B;B	0.41571	0.36;0.36	T	0.16928	-1.0386	10	0.38643	T	0.18	-1.4024	4.9234	0.13882	0.1681:0.6474:0.0:0.1845	.	151;151	Q5T9B9;P17813	.;EGLN_HUMAN	P	151	ENSP00000362299:A151P;ENSP00000341917:A151P	ENSP00000341917:A151P	A	-	1	0	ENG	129628682	0.000000	0.05858	0.005000	0.12908	0.139000	0.21198	-0.601000	0.05687	0.291000	0.22468	0.561000	0.74099	GCT		0.622	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			4	43	0	0	0	0.014758	0	4	43				
TUBBP5	643224	broad.mit.edu	37	9	141070915	141070915	+	RNA	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr9:141070915C>T	ENST00000503395.1	+	0	1690									tubulin, beta pseudogene 5									p.T178T(1)									TGTCAGACACCGTGGTGGAGC	0.522																																							uc004com.2		NA																	1	Substitution - coding silent(1)		prostate(1)		0						c.(316-318)ACC>ACT		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141070915C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070915C>T						TUBBP5_uc010ncq.2_3'UTR	p.T106T							4	579	+									Silent	SNP	ENST00000503395.1	37	c.318C>T																																																																																					0.522	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		5	83	0	0	0	0.008291	0	5	83				
CXorf58	254158	broad.mit.edu	37	X	23933856	23933856	+	Missense_Mutation	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chrX:23933856C>G	ENST00000379211.3	+	4	805	c.256C>G	c.(256-258)Ccc>Gcc	p.P86A		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	86								p.P86A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						GAAAGTGGCCCCCTTAGAGGC	0.353																																							uc004daz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(256-258)CCC>GCC		hypothetical protein LOC254158							69.0	59.0	62.0					X																	23933856		2203	4299	6502	SO:0001583	missense	254158							g.chrX:23933856C>G	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.256C>G	X.37:g.23933856C>G	ENSP00000368511:p.Pro86Ala					CXorf58_uc011mju.1_Missense_Mutation_p.P86A	p.P86A	NM_152761	NP_689974	Q96LI9	CX058_HUMAN			4	600	+			86						Missense_Mutation	SNP	ENST00000379211.3	37	c.256C>G	CCDS14209.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.37|16.37	3.104222|3.104222	0.56291|0.56291	.|.	.|.	ENSG00000165182|ENSG00000165182	ENST00000379211|ENST00000435707	T|.	0.33216|.	1.42|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000012|0.000012	T|T	0.77205|0.77205	0.4096|0.4096	M|M	0.79693|0.79693	2.465|2.465	0.41931|0.41931	D|D	0.990567|0.990567	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.78518|0.78518	-0.2173|-0.2173	10|6	0.87932|.	D|.	0|.	-10.8019|-10.8019	15.8642|15.8642	0.79052|0.79052	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	86;86|.	B7ZLS7;Q96LI9|.	.;CX058_HUMAN|.	A|R	86|59	ENSP00000368511:P86A|.	ENSP00000368511:P86A|.	P|P	+|+	1|2	0|0	CXorf58|CXorf58	23843777|23843777	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.343000|0.343000	0.28985|0.28985	4.100000|4.100000	0.57762|0.57762	2.460000|2.460000	0.83146|0.83146	0.540000|0.540000	0.68198|0.68198	CCC|CCC		0.353	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		3	49	0	0	0	0.009096	0	3	49				
IL1RAPL2	26280	broad.mit.edu	37	X	105010969	105010969	+	Missense_Mutation	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chrX:105010969A>T	ENST00000372582.1	+	11	2132	c.1376A>T	c.(1375-1377)gAt>gTt	p.D459V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D459V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	459	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.D459V(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TACATGGAAGATCTCACAAGA	0.388																																							uc004elz.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1375-1377)GAT>GTT		interleukin 1 receptor accessory protein-like 2							67.0	61.0	63.0					X																	105010969		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105010969A>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1376A>T	X.37:g.105010969A>T	ENSP00000361663:p.Asp459Val						p.D459V	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			11	2132	+			459			Cytoplasmic (Potential).|TIR.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1376A>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736310	0.49045	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.07216	3.21;3.21;3.21	5.39	5.39	0.77823	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000005	T	0.19446	0.0467	L	0.41079	1.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02676	-1.1125	10	0.27785	T	0.31	.	13.5324	0.61629	1.0:0.0:0.0:0.0	.	459	Q9NP60	IRPL2_HUMAN	V	459;459;64	ENSP00000361663:D459V;ENSP00000344976:D459V;ENSP00000445576:D64V	ENSP00000344976:D459V	D	+	2	0	IL1RAPL2	104897625	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.962000	0.93254	1.790000	0.52503	0.486000	0.48141	GAT		0.388	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		6	47	0	0	0	0.001168	0	6	47				
SLC16A7	9194	broad.mit.edu	37	12	60168962	60168962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr12:60168962delG	ENST00000261187.4	+	4	1050	c.886delG	c.(886-888)gctfs	p.A296fs	SLC16A7_ENST00000552024.1_Frame_Shift_Del_p.A296fs|SLC16A7_ENST00000547379.1_Frame_Shift_Del_p.A296fs|SLC16A7_ENST00000543448.1_Frame_Shift_Del_p.A197fs|SLC16A7_ENST00000552432.1_Frame_Shift_Del_p.A296fs	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	296					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TGATATGTTTGCTAGGCCTTC	0.403																																							uc001sqs.2		NA																	0				ovary(1)	1						c.(886-888)GCTfs		solute carrier family 16, member 7	Pyruvic acid(DB00119)						114.0	115.0	114.0					12																	60168962		2203	4300	6503	SO:0001589	frameshift_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60168962delG	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.886delG	12.37:g.60168962delG	ENSP00000261187:p.Ala296fs					SLC16A7_uc001sqt.2_Frame_Shift_Del_p.A296fs|SLC16A7_uc001squ.2_Frame_Shift_Del_p.A296fs|SLC16A7_uc009zqi.2_Frame_Shift_Del_p.A197fs|SLC16A7_uc010ssi.1_Frame_Shift_Del_p.A197fs	p.A296fs	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	1185	+			296			Helical; (Potential).		Q8NEM3|Q9UPB3	Frame_Shift_Del	DEL	ENST00000261187.4	37	c.886delG	CCDS8961.1																																																																																				0.403	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		10	86	NA	NA	NA	NA	NA	10	86	---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18113204	18113208	+	Frame_Shift_Del	DEL	TTCGG	TTCGG	-	rs369862362		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	TTCGG	TTCGG	-	-	TTCGG	TTCGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:18113204_18113208delTTCGG	ENST00000403915.1	+	3	1380_1384	c.929_933delTTCGG	c.(928-933)cttcggfs	p.LR310fs	KCNS3_ENST00000304101.4_Frame_Shift_Del_p.LR310fs|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	310					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCGGTAGGACTTCGGTCTCTAGGTG	0.498																																							uc002rcv.2		NA																	0				ovary(4)	4						c.(928-933)CTTCGGfs		potassium voltage-gated channel																																				SO:0001589	frameshift_variant	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18113204_18113208delTTCGG	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.929_933delTTCGG	2.37:g.18113204_18113208delTTCGG	ENSP00000385968:p.Leu310fs					KCNS3_uc002rcw.2_Frame_Shift_Del_p.L310fs	p.L310fs	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			3	1380_1384	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		310_311			Cytoplasmic (Potential).		D6W520|O43651|Q4ZFY1|Q96B56	Frame_Shift_Del	DEL	ENST00000403915.1	37	c.929_933delTTCGG	CCDS1692.1																																																																																				0.498	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		30	101	NA	NA	NA	NA	NA	30	101	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438|rs121913439|rs397517099|rs397517098|rs397517097|rs397517096|rs397517095|rs397517094|rs121913435|rs121913436|rs121913437|rs397509368|rs121913229|rs121913441|rs121913440|rs121913442|rs121913423|rs121913422|rs121913421|rs121913427|rs121913426|rs121913425|rs121913424		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	-	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaggaattaagagaagca>aaa	p.ELREA746del	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.ELREA693del|EGFR_ENST00000455089.1_In_Frame_Del_p.ELREA701del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		ELREAT -> A (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|ELREATS -> D (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2	E746_A750del(NCIH1650_LUNG)|E746K(HCC827_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1576	Deletion - In frame(1161)|Complex - deletion inframe(388)|Substitution - Missense(16)|Insertion - In frame(10)|Complex - compound substitution(1)	p.E746_A750del(1613)|p.L747_P753>S(110)|p.L747_A750>P(74)|p.E746_S752>V(67)|p.L747_T751del(62)|p.E746_T751>A(30)|p.L747_S752del(28)|p.L747_T751>P(20)|p.E746_T751del(18)|p.L747_E749del(18)|p.K745_E749del(14)|p.E746_E749del(12)|p.E746_S752del(10)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_P753>VS(6)|p.E746_A750>IP(5)|p.L747_T751>Q(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.E746_A750>QP(4)|p.E746V(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.L747S(3)|p.L747_S752>Q(3)|p.A750P(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.E746_S752>T(2)|p.A750_E758>P(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_T751>L(2)|p.E746K(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.K745_E746insVPVAIK(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.E746_T751>P(1)|p.E746del(1)|p.A750_K754del(1)|p.L747_S752>QH(1)|p.L747P(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_T751>A(1)|p.E746_P753>LS(1)|p.E746_P753>VQ(1)|p.E746_T751>LS(1)|p.A750_E758del(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746I(1)|p.L747_K754del(1)|p.R748I(1)|p.E746_A750>KP(1)|p.E746_A750>EP(1)	lung(1549)|upper_aerodigestive_tract(9)|salivary_gland(6)|thyroid(3)|large_intestine(2)|breast(2)|ovary(2)|central_nervous_system(1)|prostate(1)|kidney(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2233-2250)AAGGAATTAAGAGAAGCA>AAA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55242465_55242479delGGAATTAAGAGAAGC		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2235_2249delGGAATTAAGAGAAGC	7.37:g.55242465_55242479delGGAATTAAGAGAAGC	ENSP00000275493:p.Glu746_Ala750del	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_In_Frame_Del_p.ELREA701del|EGFR_uc011kco.1_In_Frame_Del_p.ELREA693del	p.ELREA746del	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2481_2495	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		746_750		Missing (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Del	DEL	ENST00000275493.2	37	c.2235_2249delGGAATTAAGAGAAGC	CCDS5514.1																																																																																				0.479	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		55	85	NA	NA	NA	NA	NA	55	85	---	---	---	---
