#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NOC2L	26155	broad.mit.edu	37	1	891548	891548	+	Silent	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:891548T>A	ENST00000327044.6	-	5	583	c.534A>T	c.(532-534)cgA>cgT	p.R178R	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	178				R -> Q (in Ref. 2; CAB43240). {ECO:0000305}.	apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCACAGCTGCTCGGAACGCCT	0.602																																						uc001abz.3		NA																	0				ovary(1)|skin(1)	2						c.(532-534)CGA>CGT		nucleolar complex associated 2 homolog							90.0	86.0	87.0					1																	891548		2203	4300	6503	SO:0001819	synonymous_variant	26155					nucleolus	protein binding	g.chr1:891548T>A	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.534A>T	1.37:g.891548T>A						NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Silent_p.R178R	p.R178R	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	5	593	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	178	R -> Q (in Ref. 1; CAB43240).				Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	37	c.534A>T	CCDS3.1																																																																																				0.602	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		77	37	0	0	0	0	77	37				
ALPL	249	broad.mit.edu	37	1	21896804	21896804	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:21896804C>G	ENST00000374840.3	+	8	1049	c.799C>G	c.(799-801)Cac>Gac	p.H267D	ALPL_ENST00000374832.1_Missense_Mutation_p.H267D|ALPL_ENST00000374830.1_5'UTR|ALPL_ENST00000539907.1_Missense_Mutation_p.H190D|ALPL_ENST00000540617.1_Missense_Mutation_p.H212D|ALPL_ENST00000425315.2_Missense_Mutation_p.H267D	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	267					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CTAGCACTCCCACTTCATCTG	0.587																																						uc001bet.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(799-801)CAC>GAC		tissue-nonspecific alkaline phosphatase	Amifostine(DB01143)						92.0	74.0	80.0					1																	21896804		2203	4300	6503	SO:0001583	missense	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21896804C>G	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.799C>G	1.37:g.21896804C>G	ENSP00000363973:p.His267Asp					ALPL_uc010odn.1_Missense_Mutation_p.H215D|ALPL_uc010odo.1_Missense_Mutation_p.H212D|ALPL_uc010odp.1_Missense_Mutation_p.H190D|ALPL_uc001beu.3_Missense_Mutation_p.H267D	p.H267D	NM_000478	NP_000469	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	8	1056	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	267					A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.799C>G	CCDS217.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519994	0.44866	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02	5.19	3.27	0.37495	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.411620	0.30177	N	0.010239	D	0.91768	0.7396	L	0.31120	0.905	0.35456	D	0.796131	B;B;P	0.41080	0.249;0.445;0.737	B;B;B	0.42062	0.216;0.374;0.324	D	0.90354	0.4368	10	0.46703	T	0.11	.	5.2854	0.15698	0.1482:0.6278:0.1437:0.0804	.	190;215;267	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	D	190;212;267;267;267	ENSP00000437674:H190D;ENSP00000442672:H212D;ENSP00000363973:H267D;ENSP00000363965:H267D;ENSP00000394765:H267D	ENSP00000363965:H267D	H	+	1	0	ALPL	21769391	1.000000	0.71417	0.944000	0.38274	0.963000	0.63663	2.395000	0.44459	0.730000	0.32425	0.561000	0.74099	CAC		0.587	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		46	20	0	0	0	0	46	20				
PPT1	5538	broad.mit.edu	37	1	40542559	40542559	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:40542559T>A	ENST00000433473.3	-	8	1217	c.753A>T	c.(751-753)caA>caT	p.Q251H	PPT1_ENST00000530076.1_Missense_Mutation_p.Q32H|PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000449045.2_Missense_Mutation_p.Q148H	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	251					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTCCTTGGCTTGGCCACTTC	0.463																																						uc001cfb.2		NA																	0				ovary(1)	1						c.(751-753)CAA>CAT		palmitoyl-protein thioesterase 1 isoform 1							134.0	118.0	123.0					1																	40542559		2203	4300	6503	SO:0001583	missense	5538				brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity	g.chr1:40542559T>A	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.753A>T	1.37:g.40542559T>A	ENSP00000394863:p.Gln251His					PPT1_uc010ojf.1_Intron|PPT1_uc010ojg.1_Missense_Mutation_p.Q148H|PPT1_uc009vwa.2_RNA	p.Q251H	NM_000310	NP_000301	P50897	PPT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		8	985	-	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	251					B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	c.753A>T	CCDS447.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058203	0.55325	.	.	ENSG00000131238	ENST00000433473;ENST00000449045;ENST00000530076	D;D;D	0.97209	-4.29;-4.29;-4.29	5.96	2.4	0.29515	.	0.000000	0.85682	D	0.000000	D	0.97829	0.9287	M	0.85373	2.75	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.71870	0.957;0.975	D	0.96554	0.9410	10	0.62326	D	0.03	-18.8952	6.3018	0.21117	0.0:0.1403:0.1356:0.7241	.	148;251	P50897-2;P50897	.;PPT1_HUMAN	H	251;148;32	ENSP00000394863:Q251H;ENSP00000392293:Q148H;ENSP00000434007:Q32H	ENSP00000394863:Q251H	Q	-	3	2	PPT1	40315146	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	1.112000	0.31172	0.482000	0.27582	-0.313000	0.08912	CAA		0.463	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		20	200	0	0	0	0	20	200				
TIE1	7075	broad.mit.edu	37	1	43783610	43783610	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:43783610G>A	ENST00000372476.3	+	17	2868	c.2789G>A	c.(2788-2790)cGg>cAg	p.R930Q	TIE1_ENST00000433781.2_Missense_Mutation_p.R575Q|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	930	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATTTTCTGCGGAAAAGCCGG	0.532																																						uc001ciu.2		NA																	0				lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(2788-2790)CGG>CAG		tyrosine kinase with immunoglobulin-like and							193.0	206.0	202.0					1																	43783610		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783610G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2789G>A	1.37:g.43783610G>A	ENSP00000361554:p.Arg930Gln					TIE1_uc010oke.1_Missense_Mutation_p.R885Q|TIE1_uc009vwq.2_Missense_Mutation_p.R886Q|TIE1_uc010okg.1_Missense_Mutation_p.R575Q	p.R930Q	NM_005424	NP_005415	P35590	TIE1_HUMAN			17	2868	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	930			Cytoplasmic (Potential).|Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2789G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	34	5.402584	0.96030	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.83755	-1.76;-1.76	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.205040	0.23809	N	0.044351	D	0.90160	0.6925	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89660	0.3876	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	885;575;930	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	Q	930;333;213;575	ENSP00000361554:R930Q;ENSP00000411728:R575Q	ENSP00000361553:R333Q	R	+	2	0	TIE1	43556197	1.000000	0.71417	0.514000	0.27761	0.847000	0.48162	6.702000	0.74628	2.882000	0.98803	0.655000	0.94253	CGG		0.532	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		187	366	0	0	0	0	187	366				
ITGA10	8515	broad.mit.edu	37	1	145535006	145535006	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:145535006G>C	ENST00000369304.3	+	15	2084	c.1909G>C	c.(1909-1911)Gcc>Ccc	p.A637P	ITGA10_ENST00000539363.1_Missense_Mutation_p.A494P|ITGA10_ENST00000538811.1_Missense_Mutation_p.A506P	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	637					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAGGGGGCAGCCATCCTGCT	0.562																																						uc001eoa.2		NA																	0				lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(1909-1911)GCC>CCC		integrin, alpha 10 precursor							117.0	105.0	109.0					1																	145535006		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145535006G>C	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1909G>C	1.37:g.145535006G>C	ENSP00000358310:p.Ala637Pro					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.A506P|ITGA10_uc009wiw.2_Missense_Mutation_p.A494P|ITGA10_uc010oyw.1_Missense_Mutation_p.A582P	p.A637P	NM_003637	NP_003628	O75578	ITA10_HUMAN			15	1985	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		637			Extracellular (Potential).|FG-GAP 7.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1909G>C	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003095	0.93287	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.67345	-0.26;-0.26;-0.26	5.07	5.07	0.68467	.	0.069502	0.56097	D	0.000029	T	0.78923	0.4360	M	0.81179	2.53	0.80722	D	1	D;D;D;D	0.76494	0.992;0.986;0.983;0.999	D;D;P;D	0.68483	0.956;0.921;0.657;0.958	T	0.81760	-0.0785	10	0.72032	D	0.01	.	16.329	0.83001	0.0:0.0:1.0:0.0	.	603;506;494;637	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	P	637;603;494;506	ENSP00000358310:A637P;ENSP00000439894:A494P;ENSP00000440011:A506P	ENSP00000358310:A637P	A	+	1	0	ITGA10	144246363	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.791000	0.91849	2.542000	0.85734	0.609000	0.83330	GCC		0.562	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		49	159	0	0	0	0	49	159				
CLK2	1196	broad.mit.edu	37	1	155240700	155240700	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:155240700C>T	ENST00000368361.4	-	2	384	c.69G>A	c.(67-69)cgG>cgA	p.R23R	CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000355560.4_Silent_p.R23R|CLK2_ENST00000536801.1_Silent_p.R23R|CLK2_ENST00000361168.5_Silent_p.R23R			P49760	CLK2_HUMAN	CDC-like kinase 2	23					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R23R(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTTTCGGCTCCGATAGTGTT	0.572								Other conserved DNA damage response genes																														uc001fjy.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(67-69)CGG>CGA	Other_conserved_DNA_damage_response_genes	CDC-like kinase 2							128.0	121.0	124.0					1																	155240700		2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155240700C>T	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.69G>A	1.37:g.155240700C>T						RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Silent_p.R23R|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Silent_p.R23R	p.R23R	NM_003993	NP_003984	P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	359	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		23					B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.69G>A																																																																																					0.572	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		59	145	0	0	0	0	59	145				
LRRN2	10446	broad.mit.edu	37	1	204587388	204587388	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:204587388C>A	ENST00000367175.1	-	1	3945	c.1733G>T	c.(1732-1734)gGa>gTa	p.G578V	LRRN2_ENST00000367177.3_Missense_Mutation_p.G578V|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367176.3_Missense_Mutation_p.G578V|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	578					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCTGTGGGTTCCCCGAGGCAG	0.647																																						uc001hbe.1		NA																	0				central_nervous_system(2)	2						c.(1732-1734)GGA>GTA		leucine rich repeat neuronal 2 precursor							53.0	59.0	57.0					1																	204587388		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587388C>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1733G>T	1.37:g.204587388C>A	ENSP00000356143:p.Gly578Val					MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.G578V|LRRN2_uc009xbf.1_Missense_Mutation_p.G578V|MDM4_uc001hbc.2_Intron	p.G578V	NM_006338	NP_006329	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		3	2121	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		578			Extracellular (Potential).		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1733G>T	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835467	0.50951	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.04917	3.53;3.53;3.53	5.48	5.48	0.80851	.	0.000000	0.39544	N	0.001340	T	0.18383	0.0441	L	0.53249	1.67	0.80722	D	1	D	0.67145	0.996	D	0.65987	0.94	T	0.00043	-1.2224	10	0.87932	D	0	.	12.3372	0.55073	0.0:0.9216:0.0:0.0784	.	578	O75325	LRRN2_HUMAN	V	578	ENSP00000356144:G578V;ENSP00000356145:G578V;ENSP00000356143:G578V	ENSP00000356143:G578V	G	-	2	0	LRRN2	202854011	0.998000	0.40836	1.000000	0.80357	0.955000	0.61496	2.607000	0.46300	2.573000	0.86826	0.543000	0.68304	GGA		0.647	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		15	53	1	0	1.03e-11	1.11e-11	15	53				
OR2W3	343171	broad.mit.edu	37	1	248059227	248059227	+	Silent	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:248059227G>T	ENST00000360358.3	+	1	339	c.339G>T	c.(337-339)ctG>ctT	p.L113L	OR2W3_ENST00000537741.1_Silent_p.L113L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGAGTGCCTGCTTCTGGCTG	0.567																																						uc001idp.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(337-339)CTG>CTT		olfactory receptor, family 2, subfamily W,							126.0	100.0	109.0					1																	248059227		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059227G>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.339G>T	1.37:g.248059227G>T						OR2W3_uc010pzb.1_Silent_p.L113L	p.L113L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	608	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		113			Helical; Name=3; (Potential).		Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.339G>T	CCDS31099.1																																																																																				0.567	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		49	94	1	0	1.33e-27	1.47e-27	49	94				
CSTF2T	23283	broad.mit.edu	37	10	53459124	53459124	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:53459124G>A	ENST00000331173.4	-	1	231	c.186C>T	c.(184-186)tgC>tgT	p.C62C	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	62	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CTTGGTATTCGCAGAAGCCAT	0.537																																						uc001jjp.2		NA																	0				ovary(1)	1						c.(184-186)TGC>TGT		cleavage stimulation factor, 3' pre-RNA, subunit							112.0	121.0	118.0					10																	53459124		2203	4300	6503	SO:0001819	synonymous_variant	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53459124G>A	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.186C>T	10.37:g.53459124G>A						PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	p.C62C	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	232	-			62			RRM.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Silent	SNP	ENST00000331173.4	37	c.186C>T	CCDS7245.1																																																																																				0.537	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		75	149	0	0	0	0	75	149				
CCAR1	55749	broad.mit.edu	37	10	70531028	70531028	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:70531028A>G	ENST00000265872.6	+	18	2483	c.2364A>G	c.(2362-2364)aaA>aaG	p.K788K	CCAR1_ENST00000535016.1_Silent_p.K773K|CCAR1_ENST00000543719.1_Silent_p.K773K	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	788	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GTATATACAAATCATTACTGT	0.308																																						uc001joo.2		NA																	0				ovary(6)|large_intestine(1)	7						c.(2362-2364)AAA>AAG		cell-cycle and apoptosis regulatory protein 1							75.0	83.0	80.0					10																	70531028		2202	4300	6502	SO:0001819	synonymous_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70531028A>G	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2364A>G	10.37:g.70531028A>G						CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Silent_p.K593K|CCAR1_uc009xpx.1_Silent_p.K762K|CCAR1_uc001jon.1_Silent_p.K734K|CCAR1_uc010qiz.1_Silent_p.K773K|CCAR1_uc010qja.1_Silent_p.K773K|CCAR1_uc010qjb.1_RNA	p.K788K	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			18	2483	+			788			Glu-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	37	c.2364A>G	CCDS7282.1																																																																																				0.308	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		54	118	0	0	0	0	54	118				
PLCE1	51196	broad.mit.edu	37	10	95995857	95995857	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:95995857G>A	ENST00000371380.3	+	6	2635	c.2400G>A	c.(2398-2400)ttG>ttA	p.L800L	PLCE1_ENST00000371375.1_Silent_p.L492L|PLCE1_ENST00000260766.3_Silent_p.L800L|PLCE1_ENST00000371385.3_Silent_p.L492L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	800					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGCTCCTTGAAGGATAAAA	0.458																																						uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(2398-2400)TTG>TTA		phospholipase C, epsilon 1 isoform 1							49.0	54.0	52.0					10																	95995857		1885	4103	5988	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95995857G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2400G>A	10.37:g.95995857G>A						PLCE1_uc010qnx.1_Silent_p.L800L|PLCE1_uc001kjm.2_Silent_p.L492L	p.L800L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			7	3034	+		Colorectal(252;0.0458)	800					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.2400G>A	CCDS41552.1																																																																																				0.458	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		12	86	0	0	0	0	12	86				
HPS1	3257	broad.mit.edu	37	10	100182223	100182223	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:100182223C>T	ENST00000325103.6	-	17	1879	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.R549H	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	549					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCCAGTGGTGCGGTCCACATA	0.562									Hermansky-Pudlak syndrome																													uc010qpf.1		NA																	0				skin(1)	1						c.(1645-1647)CGC>CAC		Hermansky-Pudlak syndrome 1 protein isoform a							113.0	111.0	112.0					10																	100182223		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100182223C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1646G>A	10.37:g.100182223C>T	ENSP00000326649:p.Arg549His					HPS1_uc001kpi.1_Missense_Mutation_p.R550H|HPS1_uc001kpj.1_Missense_Mutation_p.R457H|HPS1_uc001kpk.1_Missense_Mutation_p.R374H	p.R549H	NM_000195	NP_000186	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	17	1892	-		Colorectal(252;0.234)	549					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.1646G>A	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161579	0.94727	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891	T;T	0.33438	1.41;1.41	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.71961	-0.4434	10	0.87932	D	0	.	19.0949	0.93246	0.0:1.0:0.0:0.0	.	516;549;550	Q92902-2;Q8WXE5;D3DR62	.;.;.	H	549;549;516	ENSP00000326649:R549H;ENSP00000355310:R549H	ENSP00000326649:R549H	R	-	2	0	HPS1	100172213	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	7.209000	0.77916	2.502000	0.84385	0.561000	0.74099	CGC		0.562	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		66	181	0	0	0	0	66	181				
ABCC8	6833	broad.mit.edu	37	11	17427072	17427072	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:17427072C>A	ENST00000389817.3	-	27	3436	c.3368G>T	c.(3367-3369)aGa>aTa	p.R1123I	ABCC8_ENST00000302539.4_Missense_Mutation_p.R1124I			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1123	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGATGAAAATCTGTTCAGGAT	0.512																																						uc001mnc.2		NA																	0				ovary(1)	1						c.(3367-3369)AGA>ATA		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						166.0	164.0	165.0					11																	17427072		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17427072C>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3368G>T	11.37:g.17427072C>A	ENSP00000374467:p.Arg1123Ile						p.R1123I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	27	3494	-			1123			Cytoplasmic (By similarity).|ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3368G>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	35	5.471124	0.96274	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.93247	-3.19;-3.19	5.75	5.75	0.90469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98012	0.9345	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.98696	1.0698	10	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	1123	Q09428	ABCC8_HUMAN	I	1123;1124	ENSP00000374467:R1123I;ENSP00000303960:R1124I	ENSP00000303960:R1124I	R	-	2	0	ABCC8	17383648	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.725000	0.93324	0.655000	0.94253	AGA		0.512	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		64	146	1	0	2.7e-31	3.02e-31	64	146				
API5	8539	broad.mit.edu	37	11	43345053	43345053	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:43345053C>A	ENST00000531273.1	+	6	756	c.617C>A	c.(616-618)aCa>aAa	p.T206K	API5_ENST00000378852.3_Missense_Mutation_p.T206K|API5_ENST00000534600.1_Missense_Mutation_p.T206K|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.T195K|API5_ENST00000420461.2_Missense_Mutation_p.T152K			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	206	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.L204_S208delLQTVS(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGCTTACAGACAGTGAGTGGA	0.438																																					Pancreas(1;98 122 5625 20895 49453)	uc010rfh.1		NA																	1	Deletion - In frame(1)		prostate(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(616-618)ACA>AAA		apoptosis inhibitor 5 isoform a							108.0	104.0	105.0					11																	43345053		2203	4300	6503	SO:0001583	missense	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43345053C>A	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.617C>A	11.37:g.43345053C>A	ENSP00000431391:p.Thr206Lys					API5_uc010rfg.1_Missense_Mutation_p.T195K|API5_uc001mxf.2_Missense_Mutation_p.T206K|API5_uc010rfi.1_Missense_Mutation_p.T152K|API5_uc001mxg.2_Missense_Mutation_p.T80K	p.T206K	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN			6	790	+			206					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.617C>A	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330619	0.95733	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	M	0.69358	2.11	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.999;1.0;0.986;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.922;0.997;0.951	T	0.43988	-0.9357	10	0.49607	T	0.09	-37.0326	19.6343	0.95724	0.0:1.0:0.0:0.0	.	152;206;195;206;206	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	K	195;206;152;206;206;56	ENSP00000399341:T195K;ENSP00000431391:T206K;ENSP00000402540:T152K;ENSP00000368129:T206K;ENSP00000434462:T206K;ENSP00000436436:T56K	ENSP00000368129:T206K	T	+	2	0	API5	43301629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.809000	0.96659	0.655000	0.94253	ACA		0.438	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		50	94	1	0	6.19e-15	6.68e-15	50	94				
OR5T1	390155	broad.mit.edu	37	11	56043909	56043909	+	Silent	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:56043909G>C	ENST00000313033.2	+	1	881	c.795G>C	c.(793-795)ggG>ggC	p.G265G		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTTATCATGGGACAATCCTCT	0.418																																						uc001nio.1		NA																	0				ovary(2)|pancreas(1)	3						c.(793-795)GGG>GGC		olfactory receptor, family 5, subfamily T,							234.0	202.0	213.0					11																	56043909		2201	4296	6497	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043909G>C	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.795G>C	11.37:g.56043909G>C							p.G265G	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	795	+	Esophageal squamous(21;0.00448)		265			Helical; Name=6; (Potential).		B2RNM9	Silent	SNP	ENST00000313033.2	37	c.795G>C	CCDS31525.1																																																																																				0.418	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		219	247	0	0	0	0	219	247				
VWCE	220001	broad.mit.edu	37	11	61042028	61042028	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:61042028G>C	ENST00000335613.5	-	12	1910	c.1524C>G	c.(1522-1524)taC>taG	p.Y508*	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	508	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCCGTCTGCGTACCACCGGC	0.552																																						uc001nra.2		NA																	0				ovary(1)	1						c.(1522-1524)TAC>TAG		von Willebrand factor C and EGF domains							197.0	125.0	149.0					11																	61042028		2203	4299	6502	SO:0001587	stop_gained	220001					extracellular region	calcium ion binding	g.chr11:61042028G>C	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1524C>G	11.37:g.61042028G>C	ENSP00000334186:p.Tyr508*					VWCE_uc001nrb.2_RNA	p.Y508*	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			12	1803	-			508			VWFC 3.		A5PKV0|Q7Z7L6|Q86WK8	Nonsense_Mutation	SNP	ENST00000335613.5	37	c.1524C>G	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	39	7.673938	0.98425	.	.	ENSG00000167992	ENST00000335613	.	.	.	4.92	-2.32	0.06745	.	0.000000	0.42053	D	0.000770	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0713	0.48006	0.434:0.0:0.566:0.0	.	.	.	.	X	508	.	ENSP00000334186:Y508X	Y	-	3	2	VWCE	60798604	0.000000	0.05858	0.035000	0.18076	0.810000	0.45777	-1.531000	0.02219	-0.495000	0.06659	0.549000	0.68633	TAC		0.552	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		30	147	0	0	0	0	30	147				
NDUFV1	4723	broad.mit.edu	37	11	67377002	67377002	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:67377002C>T	ENST00000322776.6	+	4	559	c.406C>T	c.(406-408)Cac>Tac	p.H136Y	NDUFV1_ENST00000415352.2_Missense_Mutation_p.H129Y|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Missense_Mutation_p.H127Y|RP11-655M14.12_ENST00000533876.1_RNA|C11orf72_ENST00000333139.3_5'Flank|NDUFV1_ENST00000532303.1_Missense_Mutation_p.H35Y	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	136					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						CCATGATCCTCACAAGCTGCT	0.632																																						uc001omj.2		NA																	0				skin(1)	1						c.(406-408)CAC>TAC		NADH dehydrogenase ubiquinone flavoprotein 1	NADH(DB00157)						74.0	95.0	88.0					11																	67377002		2200	4294	6494	SO:0001583	missense	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67377002C>T	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.406C>T	11.37:g.67377002C>T	ENSP00000322450:p.His136Tyr					NDUFV1_uc010rpv.1_Missense_Mutation_p.H35Y|NDUFV1_uc001oml.2_Missense_Mutation_p.H129Y|NDUFV1_uc001omk.3_Missense_Mutation_p.H127Y|NDUFV1_uc009yrz.1_Missense_Mutation_p.H35Y|NDUFV1_uc010rpw.1_5'Flank	p.H136Y	NM_007103	NP_009034	P49821	NDUV1_HUMAN			4	559	+			136					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	37	c.406C>T	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753912	0.89843	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000532343;ENST00000415352;ENST00000533075;ENST00000529867;ENST00000530638;ENST00000528314	D;D;D;D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	4.17	4.17	0.49024	NADH:ubiquinone oxidoreductase, 51kDa subunit (1);	0.054070	0.64402	D	0.000001	D	0.96241	0.8774	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.997;0.988	D;D;D;D	0.76575	0.984;0.988;0.98;0.944	D	0.97027	0.9747	10	0.87932	D	0	-15.3296	15.3019	0.73958	0.0:1.0:0.0:0.0	.	35;129;127;136	B4DE93;G3V0I5;P49821-2;P49821	.;.;.;NDUV1_HUMAN	Y	136;35;35;127;35;129;129;124;97;35	ENSP00000322450:H136Y;ENSP00000432015:H35Y;ENSP00000435202:H35Y;ENSP00000436766:H127Y;ENSP00000431751:H35Y;ENSP00000395368:H129Y;ENSP00000437267:H129Y;ENSP00000434438:H124Y;ENSP00000436936:H97Y;ENSP00000434581:H35Y	ENSP00000322450:H136Y	H	+	1	0	NDUFV1	67133578	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.559000	0.82265	2.174000	0.68829	0.555000	0.69702	CAC		0.632	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		111	311	0	0	0	0	111	311				
MYEOV	26579	broad.mit.edu	37	11	69062839	69062839	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:69062839C>A	ENST00000308946.3	+	2	468	c.18C>A	c.(16-18)tgC>tgA	p.C6*	MYEOV_ENST00000441339.2_Nonsense_Mutation_p.C6*|MYEOV_ENST00000535407.1_Intron	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	6										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		tcagaatctgcgtcacataca	0.577																																						uc001oov.2		NA																	0					0						c.(16-18)TGC>TGA		myeloma overexpressed							190.0	130.0	150.0					11																	69062839		2199	4293	6492	SO:0001587	stop_gained	26579							g.chr11:69062839C>A	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.18C>A	11.37:g.69062839C>A	ENSP00000308330:p.Cys6*					MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Nonsense_Mutation_p.C6*|MYEOV_uc001oow.2_Intron	p.C6*	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	468	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		6					Q9UGN6|Q9UGN7	Nonsense_Mutation	SNP	ENST00000308946.3	37	c.18C>A	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623581	0.87460	.	.	ENSG00000172927	ENST00000441339;ENST00000308946	.	.	.	1.4	-2.8	0.05823	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.0687	0.19877	0.0:0.5827:0.0:0.4173	.	.	.	.	X	6	.	ENSP00000308330:C6X	C	+	3	2	MYEOV	68819415	0.004000	0.15560	0.000000	0.03702	0.008000	0.06430	0.154000	0.16343	-0.973000	0.03555	-0.339000	0.08088	TGC		0.577	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			16	35	1	0	6.32e-08	6.67e-08	16	35				
NCAPD2	9918	broad.mit.edu	37	12	6632162	6632162	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:6632162C>G	ENST00000315579.5	+	16	2922	c.2123C>G	c.(2122-2124)tCt>tGt	p.S708C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.S663C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	708					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AAAGGGGACTCTGCCAGGTAT	0.542																																						uc001qoo.2		NA																	0				ovary(2)|lung(1)|breast(1)|kidney(1)	5						c.(2122-2124)TCT>TGT		non-SMC condensin I complex, subunit D2							60.0	60.0	60.0					12																	6632162		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6632162C>G	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2123C>G	12.37:g.6632162C>G	ENSP00000325017:p.Ser708Cys					NCAPD2_uc009zen.1_Missense_Mutation_p.S580C|NCAPD2_uc010sfd.1_Missense_Mutation_p.S663C	p.S708C	NM_014865	NP_055680	Q15021	CND1_HUMAN			16	2169	+			708					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.2123C>G	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104718	0.77096	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.50548	0.74;0.74;0.74	5.93	5.93	0.95920	Armadillo-type fold (1);	0.216928	0.49305	D	0.000141	T	0.59293	0.2183	L	0.53249	1.67	0.38626	D	0.951265	D;P;P	0.63046	0.992;0.693;0.805	P;P;B	0.52424	0.698;0.572;0.401	T	0.63125	-0.6707	10	0.87932	D	0	-12.416	20.3437	0.98782	0.0:1.0:0.0:0.0	.	663;669;708	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	C	708;580;663;580	ENSP00000325017:S708C;ENSP00000371895:S580C;ENSP00000444417:S663C	ENSP00000325017:S708C	S	+	2	0	NCAPD2	6502423	0.999000	0.42202	0.984000	0.44739	0.983000	0.72400	4.408000	0.59761	2.815000	0.96918	0.561000	0.74099	TCT		0.542	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		34	86	0	0	0	0	34	86				
GYS2	2998	broad.mit.edu	37	12	21693415	21693415	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:21693415G>A	ENST00000261195.2	-	14	1992	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	580					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCCTTTGGCGGCGTGACTGT	0.438																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2		NA																	0				lung(1)|skin(1)	2						c.(1738-1740)CGC>TGC		glycogen synthase 2							154.0	158.0	157.0					12																	21693415		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21693415G>A		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1738C>T	12.37:g.21693415G>A	ENSP00000261195:p.Arg580Cys						p.R580C	NM_021957	NP_068776	P54840	GYS2_HUMAN			14	1993	-			580					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.1738C>T	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544909	0.86022	.	.	ENSG00000111713	ENST00000261195	T	0.73363	-0.74	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.89093	0.6617	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91105	0.4917	10	0.87932	D	0	-16.9227	18.6922	0.91588	0.0:0.0:1.0:0.0	.	580	P54840	GYS2_HUMAN	C	580	ENSP00000261195:R580C	ENSP00000261195:R580C	R	-	1	0	GYS2	21584682	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.655000	0.83696	2.641000	0.89580	0.650000	0.86243	CGC		0.438	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		117	267	0	0	0	0	117	267				
KMT2D	8085	broad.mit.edu	37	12	49435775	49435775	+	Splice_Site	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:49435775T>C	ENST00000301067.7	-	29	6109		c.e29-2			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTGACCAGTCTGGAGGGCAGA	0.557																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.e29-1		myeloid/lymphoid or mixed-lineage leukemia 2							53.0	57.0	56.0					12																	49435775		1982	4165	6147	SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49435775T>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6110-2A>G	12.37:g.49435775T>C		HNSCC(34;0.089)					p.D2037_splice	NM_003482	NP_003473	O14686	MLL2_HUMAN			29	6110	-								O14687	Splice_Site	SNP	ENST00000301067.7	37	c.6110_splice	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581521	0.65992	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6109	0.68514	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47722042	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.089000	0.57685	2.169000	0.68431	0.459000	0.35465	.		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	14	2	0	0	0	0	14	2				
SCN8A	6334	broad.mit.edu	37	12	52201177	52201177	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:52201177C>T	ENST00000354534.6	+	27	6085	c.5907C>T	c.(5905-5907)gcC>gcT	p.A1969A	RP11-923I11.3_ENST00000565518.1_lincRNA|SCN8A_ENST00000545061.1_Silent_p.A1928A|AC068987.1_ENST00000599343.1_5'Flank	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1969					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGGAAAGAGCCAAAAGACAAA	0.428																																						uc001ryw.2		NA																	0				ovary(7)	7						c.(5905-5907)GCC>GCT		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						22.0	24.0	24.0					12																	52201177		1890	4115	6005	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52201177C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5907C>T	12.37:g.52201177C>T						uc001rzb.1_5'Flank	p.A1969A	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	6085	+			1969					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.5907C>T	CCDS44891.1																																																																																				0.428	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		16	23	0	0	0	0	16	23				
ACVR1B	91	broad.mit.edu	37	12	52378996	52378996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:52378996C>T	ENST00000257963.4	+	6	1077	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000415850.2_Nonsense_Mutation_p.R334*|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000542485.1_Nonsense_Mutation_p.R282*|ACVR1B_ENST00000541224.1_Nonsense_Mutation_p.R375*|ACVR1B_ENST00000426655.2_Nonsense_Mutation_p.R334*	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	334	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AATTGCTCATCGAGACTTAAA	0.433																																						uc001rzn.2		NA																	0				pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9						c.(1000-1002)CGA>TGA		activin A receptor, type IB isoform a precursor	Adenosine triphosphate(DB00171)						77.0	74.0	75.0					12																	52378996		2203	4300	6503	SO:0001587	stop_gained	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52378996C>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1000C>T	12.37:g.52378996C>T	ENSP00000257963:p.Arg334*					ACVR1B_uc001rzl.2_Nonsense_Mutation_p.R334*|ACVR1B_uc001rzm.2_Nonsense_Mutation_p.R334*|ACVR1B_uc010snn.1_Nonsense_Mutation_p.R375*	p.R334*	NM_004302	NP_004293	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	6	1042	+			334			Protein kinase.|Cytoplasmic (Potential).		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Nonsense_Mutation	SNP	ENST00000257963.4	37	c.1000C>T	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289488	0.95517	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	.	.	.	4.76	3.8	0.43715	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8478	0.57839	0.2551:0.7449:0.0:0.0	.	.	.	.	X	334;375;334;334;282	.	ENSP00000257963:R334X	R	+	1	2	ACVR1B	50665263	0.927000	0.31430	1.000000	0.80357	0.998000	0.95712	0.782000	0.26788	2.646000	0.89796	0.563000	0.77884	CGA		0.433	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		44	32	0	0	0	0	44	32				
KRT5	3852	broad.mit.edu	37	12	52910945	52910945	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:52910945C>G	ENST00000252242.4	-	6	1554	c.1164G>C	c.(1162-1164)gaG>gaC	p.E388D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	388	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCGGTTCATCTCAGAGATCT	0.522																																						uc001san.2		NA																	0					0						c.(1162-1164)GAG>GAC		keratin 5							134.0	126.0	128.0					12																	52910945		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52910945C>G		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1164G>C	12.37:g.52910945C>G	ENSP00000252242:p.Glu388Asp					KRT5_uc009zmh.2_Missense_Mutation_p.E388D	p.E388D	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1327	-			388			Rod.|Coil 2.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.1164G>C	CCDS8830.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.76|17.76	3.469127|3.469127	0.63625|0.63625	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000548409|ENST00000252242;ENST00000456000	.|D	.|0.90504	.|-2.68	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Filament (1);	.|0.000000	.|0.64402	.|D	.|0.000018	D|D	0.91942|0.91942	0.7448|0.7448	L|L	0.59912|0.59912	1.85|1.85	0.42490|0.42490	D|D	0.992895|0.992895	.|P	.|0.49358	.|0.923	.|P	.|0.57057	.|0.812	D|D	0.91686|0.91686	0.5362|0.5362	5|10	.|0.59425	.|D	.|0.04	.|.	8.9196|8.9196	0.35604|0.35604	0.1491:0.7769:0.0:0.074|0.1491:0.7769:0.0:0.074	.|.	.|388	.|P13647	.|K2C5_HUMAN	H|D	96|388;353	.|ENSP00000252242:E388D	.|ENSP00000252242:E388D	D|E	-|-	1|3	0|2	KRT5|KRT5	51197212|51197212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.690000|2.690000	0.47001|0.47001	2.648000|2.648000	0.89879|0.89879	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.522	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			180	100	0	0	0	0	180	100				
LRP1	4035	broad.mit.edu	37	12	57571369	57571369	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:57571369C>T	ENST00000243077.3	+	26	4822	c.4356C>T	c.(4354-4356)gaC>gaT	p.D1452D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1452					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.D1452D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTGGATTGACGCCAGGTCAG	0.657																																						uc001snd.2		NA																	1	Substitution - coding silent(1)	p.D1452D(1)	central_nervous_system(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(4354-4356)GAC>GAT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						32.0	28.0	29.0					12																	57571369		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57571369C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4356C>T	12.37:g.57571369C>T							p.D1452D	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	26	4822	+			1452			Extracellular (Potential).|LDL-receptor class B 11.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.4356C>T	CCDS8932.1																																																																																				0.657	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		11	53	0	0	0	0	11	53				
KCNMB4	27345	broad.mit.edu	37	12	70824419	70824419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:70824419C>T	ENST00000258111.4	+	3	1078	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	207					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	CATGAAGAAGCGCAAGTTCTC	0.552																																						uc001svx.2		NA																	0					0						c.(619-621)CGC>TGC		calcium-activated potassium channel beta 4							70.0	63.0	65.0					12																	70824419		2203	4300	6503	SO:0001583	missense	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70824419C>T	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.619C>T	12.37:g.70824419C>T	ENSP00000258111:p.Arg207Cys					uc001svy.1_5'Flank	p.R207C	NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		3	1072	+	Renal(347;0.236)		207			Cytoplasmic (Potential).		Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	ENST00000258111.4	37	c.619C>T	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603589	0.66445	.	.	ENSG00000135643	ENST00000258111	T	0.13196	2.61	6.06	5.14	0.70334	.	0.059101	0.64402	D	0.000012	T	0.16428	0.0395	N	0.08118	0	0.53005	D	0.99996	D	0.89917	1.0	P	0.61722	0.893	T	0.08006	-1.0743	10	0.52906	T	0.07	-11.2378	14.2773	0.66189	0.3001:0.6999:0.0:0.0	.	207	Q86W47	KCMB4_HUMAN	C	207	ENSP00000258111:R207C	ENSP00000258111:R207C	R	+	1	0	KCNMB4	69110686	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.234000	0.51320	2.882000	0.98803	0.655000	0.94253	CGC		0.552	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		54	15	0	0	0	0	54	15				
CAMKK2	10645	broad.mit.edu	37	12	121701709	121701709	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:121701709G>A	ENST00000324774.5	-	6	1487	c.659C>T	c.(658-660)cCt>cTt	p.P220L	CAMKK2_ENST00000446440.2_Missense_Mutation_p.P220L|CAMKK2_ENST00000337174.3_Missense_Mutation_p.P220L|CAMKK2_ENST00000392473.2_Missense_Mutation_p.P220L|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P220L|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P220L|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P220L|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P220L|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P220L|CAMKK2_ENST00000392474.2_Missense_Mutation_p.P220L	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|RP domain.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCAGCCTCCAGGAGCTGGCCG	0.612																																						uc001tzu.2		NA																	0				lung(1)|large_intestine(1)|stomach(1)	3						c.(658-660)CCT>CTT		calcium/calmodulin-dependent protein kinase							31.0	30.0	30.0					12																	121701709		2203	4300	6503	SO:0001583	missense	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121701709G>A	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.659C>T	12.37:g.121701709G>A	ENSP00000312741:p.Pro220Leu					CAMKK2_uc001tzt.2_Missense_Mutation_p.P220L|CAMKK2_uc001tzv.2_Missense_Mutation_p.P220L|CAMKK2_uc001tzw.2_Missense_Mutation_p.P220L|CAMKK2_uc001tzx.2_Missense_Mutation_p.P220L|CAMKK2_uc001tzy.2_Missense_Mutation_p.P220L|CAMKK2_uc001uaa.1_Missense_Mutation_p.P220L|CAMKK2_uc001uab.2_Missense_Mutation_p.P220L|CAMKK2_uc001uac.2_Missense_Mutation_p.P220L	p.P220L	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN			6	783	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		220			RP domain.|Protein kinase.		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	c.659C>T	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072388	0.55646	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T	0.73681	-0.76;-0.75;-0.73;-0.75;-0.77;-0.75;-0.77;-0.76;-0.75	5.97	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.317552	0.33180	N	0.005181	T	0.69780	0.3149	L	0.48877	1.53	0.42943	D	0.994356	B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B	0.12837	0.001;0.001;0.005;0.005;0.002;0.008;0.002	T	0.66846	-0.5820	10	0.54805	T	0.06	4.9079	15.615	0.76760	0.0:0.0:0.8614:0.1386	.	220;220;220;220;220;220;220	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	L	220;220;220;220;220;220;220;203;220;220	ENSP00000376266:P220L;ENSP00000321230:P220L;ENSP00000445944:P220L;ENSP00000336634:P220L;ENSP00000312741:P220L;ENSP00000388368:P220L;ENSP00000384600:P220L;ENSP00000388273:P220L;ENSP00000376265:P220L	ENSP00000312741:P220L	P	-	2	0	CAMKK2	120186092	0.971000	0.33674	0.525000	0.27900	0.988000	0.76386	5.097000	0.64542	1.515000	0.48885	0.591000	0.81541	CCT		0.612	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		41	26	0	0	0	0	41	26				
RNF17	56163	broad.mit.edu	37	13	25374506	25374506	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr13:25374506T>C	ENST00000255324.5	+	13	1644	c.1592T>C	c.(1591-1593)gTt>gCt	p.V531A	RNF17_ENST00000255325.6_Missense_Mutation_p.V531A|RNF17_ENST00000381921.1_Missense_Mutation_p.V531A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	531					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCTCCTAGAGTTGTTGATACC	0.328																																						uc001upr.2		NA																	0				ovary(1)|skin(1)	2						c.(1591-1593)GTT>GCT		ring finger protein 17							95.0	99.0	98.0					13																	25374506		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25374506T>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1592T>C	13.37:g.25374506T>C	ENSP00000255324:p.Val531Ala					RNF17_uc010tdd.1_Missense_Mutation_p.V390A|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.V531A|RNF17_uc001ups.2_Missense_Mutation_p.V470A	p.V531A	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	13	1633	+		Lung SC(185;0.0225)|Breast(139;0.077)	531					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.1592T>C	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	7.182	0.589775	0.13812	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	T;T;T	0.26518	1.73;1.73;1.73	4.44	3.26	0.37387	.	0.455157	0.18628	N	0.135648	T	0.13841	0.0335	N	0.19112	0.55	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.14578	0.011;0.01	T	0.09100	-1.0690	10	0.30854	T	0.27	.	4.7344	0.12981	0.1668:0.0922:0.0:0.7411	.	531;531	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	A	531;531;390;532	ENSP00000255324:V531A;ENSP00000371346:V531A;ENSP00000255325:V532A	ENSP00000255324:V531A	V	+	2	0	RNF17	24272506	0.922000	0.31269	1.000000	0.80357	0.117000	0.20001	0.769000	0.26604	0.850000	0.35239	0.460000	0.39030	GTT		0.328	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		53	159	0	0	0	0	53	159				
FREM2	341640	broad.mit.edu	37	13	39264672	39264672	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr13:39264672G>T	ENST00000280481.7	+	1	3407	c.3191G>T	c.(3190-3192)aGc>aTc	p.S1064I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1064					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTGTTGATAGCCAGGCCCCA	0.413																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(3190-3192)AGC>ATC		FRAS1-related extracellular matrix protein 2							108.0	109.0	108.0					13																	39264672		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264672G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3191G>T	13.37:g.39264672G>T	ENSP00000280481:p.Ser1064Ile						p.S1064I	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3500	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1064			Extracellular (Potential).|CSPG 7.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3191G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182511	0.38511	.	.	ENSG00000150893	ENST00000280481	T	0.30448	1.53	5.9	-5.14	0.02875	.	0.328981	0.37178	N	0.002220	T	0.45155	0.1328	M	0.80982	2.52	0.33282	D	0.562393	P	0.48089	0.905	P	0.52514	0.701	T	0.62770	-0.6784	10	0.87932	D	0	.	17.6135	0.88061	0.7063:0.0:0.2937:0.0	.	1064	Q5SZK8	FREM2_HUMAN	I	1064	ENSP00000280481:S1064I	ENSP00000280481:S1064I	S	+	2	0	FREM2	38162672	0.367000	0.25023	0.743000	0.31040	0.799000	0.45148	0.481000	0.22260	-1.114000	0.02977	-0.142000	0.14014	AGC		0.413	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		92	168	1	0	4.08e-41	4.6e-41	92	168				
L2HGDH	79944	broad.mit.edu	37	14	50736050	50736050	+	Splice_Site	SNP	T	T	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:50736050T>G	ENST00000267436.4	-	7	1136		c.e7-2		L2HGDH_ENST00000421284.3_Splice_Site|L2HGDH_ENST00000261699.4_Splice_Site			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTCCTCTCCCTAGTGCAAAAT	0.383																																						uc001wxu.2		NA																	0				ovary(2)	2	GRCh37	CS043123	L2HGDH	S		c.e7-1		L-2-hydroxyglutarate dehydrogenase precursor							85.0	83.0	83.0					14																	50736050		2203	4300	6503	SO:0001630	splice_region_variant	79944				2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	g.chr14:50736050T>G		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.739-2A>C	14.37:g.50736050T>G						L2HGDH_uc010tqn.1_Splice_Site_p.G247_splice|L2HGDH_uc010tqo.1_Splice_Site_p.G247_splice	p.G247_splice	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN			7	818	-	all_epithelial(31;0.000599)|Breast(41;0.0102)							Q9BRR1	Splice_Site	SNP	ENST00000267436.4	37	c.739_splice	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.104963	0.77096	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3343	0.74238	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	L2HGDH	49805800	1.000000	0.71417	0.988000	0.46212	0.872000	0.50106	7.552000	0.82192	2.165000	0.68154	0.528000	0.53228	.		0.383	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884	Intron	154	70	0	0	0	0	154	70				
HIF1A	3091	broad.mit.edu	37	14	62207599	62207599	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:62207599C>G	ENST00000337138.4	+	12	2051	c.1786C>G	c.(1786-1788)Caa>Gaa	p.Q596E	HIF1A_ENST00000539097.1_Missense_Mutation_p.Q620E|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.Q537E|HIF1A_ENST00000394997.1_Missense_Mutation_p.Q597E|HIF1A_ENST00000323441.6_Missense_Mutation_p.Q596E	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	596	ID.|ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	CGCAAGTCCTCAAAGCACAGT	0.448																																						uc001xfq.2		NA																	0				kidney(3)|lung(1)	4						c.(1786-1788)CAA>GAA		hypoxia-inducible factor 1, alpha subunit							132.0	124.0	127.0					14																	62207599		2203	4300	6503	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62207599C>G	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1786C>G	14.37:g.62207599C>G	ENSP00000338018:p.Gln596Glu					HIF1A_uc001xfr.2_Missense_Mutation_p.Q596E|HIF1A_uc001xfs.2_Missense_Mutation_p.Q597E	p.Q596E	NM_001530	NP_001521	Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	12	2190	+			596			ID.|ODD.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.1786C>G	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.614361	0.00120	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.51817	0.8;0.8;0.69;0.8;0.79	0.685	0.685	0.18009	.	7739.210000	0.00166	N	0.000000	T	0.28632	0.0709	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.06405	0.002;0.0;0.0	T	0.17198	-1.0377	9	0.29301	T	0.29	.	.	.	.	.	597;596;596	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	E	347;537;596;597;596;537;620	ENSP00000338018:Q596E;ENSP00000378446:Q597E;ENSP00000323326:Q596E;ENSP00000451696:Q537E;ENSP00000437955:Q620E	ENSP00000323326:Q596E	Q	+	1	0	HIF1A	61277352	0.553000	0.26513	0.178000	0.23040	0.763000	0.43281	0.435000	0.21510	0.641000	0.30601	0.650000	0.86243	CAA		0.448	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		55	106	0	0	0	0	55	106				
SLC8A3	6547	broad.mit.edu	37	14	70515625	70515625	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:70515625C>G	ENST00000381269.2	-	7	3019	c.2266G>C	c.(2266-2268)Gcc>Ccc	p.A756P	SLC8A3_ENST00000533541.1_Missense_Mutation_p.A113P|SLC8A3_ENST00000357887.3_Missense_Mutation_p.A754P|SLC8A3_ENST00000534137.1_Missense_Mutation_p.A753P|SLC8A3_ENST00000356921.2_Missense_Mutation_p.A750P|SLC8A3_ENST00000394330.2_Missense_Mutation_p.A113P|SLC8A3_ENST00000528359.1_Missense_Mutation_p.A754P|SLC8A3_ENST00000216568.7_Missense_Mutation_p.A127P	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	756					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCGAAGCAGGCCCAGCCGTGG	0.582																																						uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(2266-2268)GCC>CCC		solute carrier family 8 (sodium/calcium							74.0	63.0	67.0					14																	70515625		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70515625C>G	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2266G>C	14.37:g.70515625C>G	ENSP00000370669:p.Ala756Pro					SLC8A3_uc001xlu.2_Missense_Mutation_p.A113P|SLC8A3_uc001xlv.2_Missense_Mutation_p.A127P|SLC8A3_uc001xlw.2_Missense_Mutation_p.A753P|SLC8A3_uc001xlx.2_Missense_Mutation_p.A754P|SLC8A3_uc001xlz.2_Missense_Mutation_p.A750P|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.A113P	p.A756P	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	7	3020	-			756			Helical; (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.2266G>C	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683048	0.88542	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000216568;ENST00000394330;ENST00000534137;ENST00000528359;ENST00000533541	T;T;T;T;T;T;T;T	0.71817	1.22;1.14;1.28;-0.6;-0.6;1.21;1.28;0.79	5.52	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	M	0.70595	2.14	0.80722	D	1	B;D;D;D;D;B	0.89917	0.066;1.0;1.0;0.998;0.999;0.187	B;D;D;D;D;B	0.85130	0.261;0.997;0.996;0.987;0.991;0.082	T	0.83341	-0.0008	10	0.44086	T	0.13	.	16.0631	0.80853	0.0:0.8655:0.1345:0.0	.	113;750;756;754;753;127	F2Z391;P57103-2;P57103;Q96QG2;Q96QG1;Q5K3P6	.;.;NAC3_HUMAN;.;.;.	P	750;756;754;127;113;753;754;113	ENSP00000349392:A750P;ENSP00000370669:A756P;ENSP00000350560:A754P;ENSP00000216568:A127P;ENSP00000377863:A113P;ENSP00000436688:A753P;ENSP00000433531:A754P;ENSP00000437103:A113P	ENSP00000216568:A127P	A	-	1	0	SLC8A3	69585378	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.757000	0.85209	1.276000	0.44395	0.455000	0.32223	GCC		0.582	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			8	27	0	0	0	0	8	27				
SERPINA4	5267	broad.mit.edu	37	14	95033334	95033334	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:95033334C>G	ENST00000557004.1	+	3	1098	c.677C>G	c.(676-678)tCa>tGa	p.S226*	SERPINA4_ENST00000555095.1_Nonsense_Mutation_p.S226*|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Nonsense_Mutation_p.S226*			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	226					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TTCATTTCCTCAAGGACCACT	0.512																																						uc001ydk.2		NA																	0				ovary(3)|skin(1)	4						c.(676-678)TCA>TGA		serine (or cysteine) proteinase inhibitor, clade							111.0	105.0	107.0					14																	95033334		2203	4300	6503	SO:0001587	stop_gained	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033334C>G	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.677C>G	14.37:g.95033334C>G	ENSP00000450838:p.Ser226*					SERPINA4_uc010avd.2_Nonsense_Mutation_p.S263*|SERPINA4_uc001ydl.2_Nonsense_Mutation_p.S226*	p.S226*	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	743	+			226					Q53XB5|Q86TR9|Q96BZ5	Nonsense_Mutation	SNP	ENST00000557004.1	37	c.677C>G	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178157	0.94846	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	.	.	.	4.44	-4.81	0.03180	.	1.720280	0.04351	N	0.355702	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.9589	0.09403	0.4478:0.2846:0.193:0.0746	.	.	.	.	X	226	.	ENSP00000298841:S226X	S	+	2	0	SERPINA4	94103087	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.574000	0.00911	-0.551000	0.06175	0.561000	0.74099	TCA		0.512	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		39	100	0	0	0	0	39	100				
FMN1	342184	broad.mit.edu	37	15	33260945	33260945	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr15:33260945T>C	ENST00000559047.1	-	5	2956	c.2957A>G	c.(2956-2958)tAt>tGt	p.Y986C	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Missense_Mutation_p.Y888C|FMN1_ENST00000334528.9_Missense_Mutation_p.Y763C			Q68DA7	FMN1_HUMAN	formin 1	986	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTAGTCCAATATAAAGGCTT	0.463																																						uc001zhf.3		NA																	0				ovary(1)	1						c.(2287-2289)TAT>TGT		formin 1							122.0	118.0	119.0					15																	33260945		1851	4100	5951	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33260945T>C	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2957A>G	15.37:g.33260945T>C	ENSP00000454047:p.Tyr986Cys						p.Y763C	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2288	-		all_lung(180;1.14e-07)	986			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.2288A>G		.	.	.	.	.	.	.	.	.	.	T	15.91	2.973534	0.53720	.	.	ENSG00000248905	ENST00000334528	T	0.18016	2.24	4.64	3.52	0.40303	.	0.179933	0.49916	D	0.000137	T	0.42988	0.1227	M	0.86178	2.8	.	.	.	D	0.89917	1.0	D	0.97110	1.0	T	0.59542	-0.7435	9	0.66056	D	0.02	.	10.1086	0.42548	0.0:0.0793:0.0:0.9207	.	763	Q68DA7-5	.	C	763	ENSP00000333950:Y763C	ENSP00000333950:Y763C	Y	-	2	0	FMN1	31048237	1.000000	0.71417	0.933000	0.37362	0.860000	0.49131	7.782000	0.85680	0.803000	0.34113	0.528000	0.53228	TAT		0.463	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		86	169	0	0	0	0	86	169				
PKD1	5310	broad.mit.edu	37	16	2168022	2168022	+	Missense_Mutation	SNP	C	C	T	rs199476099	byFrequency	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:2168022C>T	ENST00000262304.4	-	5	1179	c.971G>A	c.(970-972)cGc>cAc	p.R324H	PKD1_ENST00000423118.1_Missense_Mutation_p.R324H|RP11-304L19.2_ENST00000562027.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	324	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.		R -> L (in PKD1). {ECO:0000269|PubMed:10364515}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCACATAGCGATGCGAGGC	0.711																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3	GRCh37	CM991042	PKD1	M		c.(970-972)CGC>CAC		polycystin 1 isoform 1 precursor							4.0	5.0	5.0					16																	2168022		1807	3784	5591	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2168022C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.971G>A	16.37:g.2168022C>T	ENSP00000262304:p.Arg324His					PKD1_uc002cot.1_Missense_Mutation_p.R324H	p.R324H	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			5	1180	-			324		R -> L (in ADPKD1).	Extracellular (Potential).|PKD 1.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.971G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	10.68	1.418630	0.25552	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.60672	0.17;0.17	5.05	-0.516	0.11950	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	0.938426	0.08849	N	0.884811	T	0.48333	0.1494	M	0.72894	2.215	0.19775	N	0.99995	B;B	0.31459	0.025;0.324	B;B	0.25506	0.005;0.061	T	0.40098	-0.9581	10	0.45353	T	0.12	.	2.5873	0.04834	0.1153:0.4552:0.2245:0.205	.	324;324	P98161-3;P98161	.;PKD1_HUMAN	H	324;324;257	ENSP00000262304:R324H;ENSP00000399501:R324H	ENSP00000262304:R324H	R	-	2	0	PKD1	2108023	0.316000	0.24580	0.393000	0.26258	0.342000	0.28953	-0.056000	0.11787	-0.311000	0.08754	0.444000	0.29173	CGC		0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			10	12	0	0	0	0	10	12				
PGP	283871	broad.mit.edu	37	16	2264251	2264251	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:2264251G>C	ENST00000333503.7	-	1	557	c.528C>G	c.(526-528)ttC>ttG	p.F176L	BRICD5_ENST00000328540.3_5'Flank|RP11-304L19.8_ENST00000561544.1_lincRNA	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	176					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)		magnesium ion binding (GO:0000287)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphoglycolate phosphatase activity (GO:0008967)|protein tyrosine phosphatase activity (GO:0004725)			skin(1)	1						TCATGTAGCTGAAGTGCGGGT	0.697																																					GBM(63;906 1080 2092 17773 18795)	uc002cpk.1		NA																	0				skin(1)	1						c.(526-528)TTC>TTG		phosphoglycolate phosphatase							9.0	10.0	10.0					16																	2264251		2059	4177	6236	SO:0001583	missense	283871				carbohydrate metabolic process		phosphoglycolate phosphatase activity	g.chr16:2264251G>C	BC035985	CCDS42104.1	16p13.3	2012-10-02				ENSG00000184207	3.1.3.18		8909	protein-coding gene	gene with protein product		172280					Standard	NM_001042371		Approved		uc002cpk.1	A6NDG6		ENST00000333503.7:c.528C>G	16.37:g.2264251G>C	ENSP00000330918:p.Phe176Leu					PGP_uc010uvz.1_RNA	p.F176L	NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN			1	572	-			176						Missense_Mutation	SNP	ENST00000333503.7	37	c.528C>G	CCDS42104.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924032	0.34002	.	.	ENSG00000184207	ENST00000333503	T	0.28895	1.59	4.34	2.39	0.29439	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	0.000000	0.85682	U	0.000000	T	0.20210	0.0486	L	0.39245	1.2	0.80722	D	1	P	0.44946	0.846	B	0.37943	0.261	T	0.03249	-1.1056	10	0.23302	T	0.38	-25.5448	9.0214	0.36202	0.1826:0.0:0.8174:0.0	.	176	A6NDG6	PGP_HUMAN	L	176	ENSP00000330918:F176L	ENSP00000330918:F176L	F	-	3	2	PGP	2204252	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	4.222000	0.58580	0.472000	0.27344	0.643000	0.83706	TTC		0.697	PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435095.1	NM_024118		6	25	0	0	0	0	6	25				
ZG16B	124220	broad.mit.edu	37	16	2881955	2881955	+	Missense_Mutation	SNP	G	G	A	rs377483530		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:2881955G>A	ENST00000382280.3	+	4	501	c.422G>A	c.(421-423)cGc>cAc	p.R141H	ZG16B_ENST00000572863.1_Missense_Mutation_p.R111H	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	141					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.R141H(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						AGCAAGGACCGCTATTTCTAT	0.537																																						uc002cru.2		NA																	1	Substitution - Missense(1)		central_nervous_system(1)	ovary(1)	1						c.(421-423)CGC>CAC		zymogen granule protein 16 homolog B precursor							61.0	65.0	64.0					16																	2881955		1972	4160	6132	SO:0001583	missense	124220					extracellular region	sugar binding	g.chr16:2881955G>A	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.422G>A	16.37:g.2881955G>A	ENSP00000371715:p.Arg141His						p.R141H	NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN			4	498	+			141					A6NIY1|B2R4F6|Q6UW28	Missense_Mutation	SNP	ENST00000382280.3	37	c.422G>A	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	g	13.67	2.306753	0.40795	.	.	ENSG00000162078	ENST00000382280	T	0.35048	1.33	3.2	1.21	0.21127	Mannose-binding lectin (3);	0.517985	0.14639	N	0.307311	T	0.37046	0.0989	L	0.51422	1.61	0.09310	N	1	D	0.65815	0.995	P	0.51229	0.663	T	0.17531	-1.0366	10	0.72032	D	0.01	-25.5507	5.3734	0.16152	0.2677:0.0:0.7323:0.0	.	141	Q96DA0	ZG16B_HUMAN	H	141	ENSP00000371715:R141H	ENSP00000371715:R141H	R	+	2	0	ZG16B	2821956	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	1.030000	0.30153	0.383000	0.24910	0.556000	0.70494	CGC		0.537	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		49	103	0	0	0	0	49	103				
NLRC3	197358	broad.mit.edu	37	16	3613683	3613683	+	RNA	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:3613683C>G	ENST00000301749.7	-	0	1660				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCTTCATGTCTTGCTCGTAA	0.592																																						uc010btn.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1255-1257)GAC>CAC		NOD3 protein							64.0	64.0	64.0					16																	3613683		2028	4178	6206			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613683C>G	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613683C>G							p.D419H	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			5	1666	-			419			NACHT.		Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37	c.1255G>C		.	.	.	.	.	.	.	.	.	.	C	15.48	2.847015	0.51164	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	.	.	.	0.42249	D	0.991968	D	0.64830	0.994	P	0.61201	0.885	D	0.95283	0.8388	9	0.87932	D	0	.	16.5858	0.84727	0.0:1.0:0.0:0.0	.	466	C9JLH9	.	H	419;419;419;466;401	ENSP00000301749:D419H;ENSP00000352039:D419H;ENSP00000414415:D466H;ENSP00000323897:D401H	ENSP00000301749:D419H	D	-	1	0	NLRC3	3553684	1.000000	0.71417	0.978000	0.43139	0.962000	0.63368	7.747000	0.85070	2.503000	0.84419	0.655000	0.94253	GAC		0.592	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		16	31	0	0	0	0	16	31				
ACSM2B	348158	broad.mit.edu	37	16	20565181	20565181	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:20565181A>G	ENST00000329697.6	-	5	826	c.658T>C	c.(658-660)Ttc>Ctc	p.F220L	ACSM2B_ENST00000565322.1_Missense_Mutation_p.F141L|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Missense_Mutation_p.F220L|ACSM2B_ENST00000565232.1_Missense_Mutation_p.F220L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	220					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCACTAGTGAAGTAGATGGCA	0.512																																						uc002dhj.3		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(658-660)TTC>CTC		acyl-CoA synthetase medium-chain family member							95.0	86.0	89.0					16																	20565181		2201	4297	6498	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20565181A>G	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.658T>C	16.37:g.20565181A>G	ENSP00000327453:p.Phe220Leu					ACSM2B_uc002dhk.3_Missense_Mutation_p.F220L|ACSM2B_uc010bwf.1_Missense_Mutation_p.F220L	p.F220L	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			6	868	-			220					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.658T>C	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.722592	0.48728	.	.	ENSG00000066813	ENST00000329697	T	0.55052	0.54	3.36	3.36	0.38483	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.000000	0.49305	D	0.000157	T	0.68851	0.3046	M	0.85710	2.77	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.60473	0.875;0.875	T	0.73748	-0.3885	10	0.87932	D	0	-17.5721	9.6637	0.39972	1.0:0.0:0.0:0.0	.	220;220	A8K051;Q68CK6	.;ACS2B_HUMAN	L	220	ENSP00000327453:F220L	ENSP00000327453:F220L	F	-	1	0	ACSM2B	20472682	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	5.999000	0.70665	1.531000	0.49152	0.496000	0.49642	TTC		0.512	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		61	119	0	0	0	0	61	119				
KCTD13	253980	broad.mit.edu	37	16	29923281	29923281	+	Splice_Site	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:29923281C>T	ENST00000568000.1	-	3	1505	c.504G>A	c.(502-504)aaG>aaA	p.K168K		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	168					cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						GGGGCCTCACCTTGGAGGTGC	0.672																																						uc002duv.2		NA																	0					0						c.(502-504)AAG>AAA		potassium channel tetramerisation domain							28.0	28.0	28.0					16																	29923281		2197	4298	6495	SO:0001630	splice_region_variant	253980				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr16:29923281C>T	AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"""polymerase delta-interacting protein 1"", ""TNFAIP1-like"""	608947	"""potassium channel tetramerisation domain containing 13"""			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.504+1G>A	16.37:g.29923281C>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA	p.K168K	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN			3	695	-			168					A8K0R5|Q96P93|Q96SA1	Silent	SNP	ENST00000568000.1	37	c.504G>A	CCDS10661.1																																																																																				0.672	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255162.2	NM_178863	Silent	14	24	0	0	0	0	14	24				
ITGAM	3684	broad.mit.edu	37	16	31332573	31332573	+	Silent	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:31332573C>A	ENST00000287497.8	+	15	1794	c.1719C>A	c.(1717-1719)ggC>ggA	p.G573G	ITGAM_ENST00000544665.3_Silent_p.G574G			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	573					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GGATAGCAGGCTCCAAGCTCT	0.542																																						uc002ebq.2		NA																	0				kidney(1)	1						c.(1717-1719)GGC>GGA		integrin alpha M isoform 2 precursor							152.0	156.0	155.0					16																	31332573		2034	4208	6242	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31332573C>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1719C>A	16.37:g.31332573C>A						ITGAM_uc002ebr.2_Silent_p.G574G|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_5'UTR|ITGAM_uc002ebs.1_5'UTR	p.G573G	NM_000632	NP_000623	P11215	ITAM_HUMAN			15	1817	+			573			Extracellular (Potential).|FG-GAP 7.		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1719C>A	CCDS45470.1																																																																																				0.542	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		108	260	1	0	2.13e-42	2.41e-42	108	260				
ARMC5	79798	broad.mit.edu	37	16	31477249	31477249	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:31477249C>T	ENST00000563544.1	+	6	2489	c.1943C>T	c.(1942-1944)tCt>tTt	p.S648F	ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000408912.3_Missense_Mutation_p.S743F|ARMC5_ENST00000538189.1_Missense_Mutation_p.S680F|ARMC5_ENST00000268314.4_Missense_Mutation_p.S648F|ARMC5_ENST00000412665.2_Missense_Mutation_p.S292F			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	648										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGCTGCTCTCTGGGAGCCCT	0.647																																						uc002ecc.2		NA																	0				pancreas(1)	1						c.(1942-1944)TCT>TTT		armadillo repeat containing 5 isoform a							47.0	57.0	53.0					16																	31477249		2187	4291	6478	SO:0001583	missense	79798						binding	g.chr16:31477249C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1943C>T	16.37:g.31477249C>T	ENSP00000456877:p.Ser648Phe					ARMC5_uc010vfn.1_Missense_Mutation_p.S743F|ARMC5_uc010vfo.1_Missense_Mutation_p.S680F|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Missense_Mutation_p.S456F|ARMC5_uc002ecb.2_Missense_Mutation_p.S648F	p.S648F	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			5	2472	+			648					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.1943C>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985542	0.74589	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.53249	1.67	0.50632	D	0.999881	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.42085	-0.9472	10	0.72032	D	0.01	-5.5104	17.0314	0.86462	0.0:1.0:0.0:0.0	.	680;680;743;648	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	F	743;680;648;292	ENSP00000386125:S743F;ENSP00000443995:S680F;ENSP00000268314:S648F;ENSP00000400183:S292F	ENSP00000268314:S648F	S	+	2	0	ARMC5	31384750	0.998000	0.40836	0.995000	0.50966	0.577000	0.36160	3.440000	0.52886	2.620000	0.88729	0.655000	0.94253	TCT		0.647	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		4	110	0	0	0	0	4	110				
RPGRIP1L	23322	broad.mit.edu	37	16	53639439	53639439	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:53639439G>A	ENST00000379925.3	-	26	3839	c.3789C>T	c.(3787-3789)gcC>gcT	p.A1263A	RPGRIP1L_ENST00000262135.4_Silent_p.A1183A|RPGRIP1L_ENST00000564374.1_Silent_p.A1217A|RPGRIP1L_ENST00000563746.1_Silent_p.A1229A	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1263					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GAAACATGTCGGCAAGGTCGA	0.527																																						uc002ehp.2		NA																	0				ovary(1)	1						c.(3787-3789)GCC>GCT		RPGRIP1-like isoform a							185.0	138.0	154.0					16																	53639439		2198	4300	6498	SO:0001819	synonymous_variant	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53639439G>A		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3789C>T	16.37:g.53639439G>A						RPGRIP1L_uc002eho.3_Silent_p.A1183A|RPGRIP1L_uc010vgy.1_Silent_p.A1217A|RPGRIP1L_uc010cbx.2_Silent_p.A1229A|RPGRIP1L_uc010vgz.1_Silent_p.A1217A	p.A1263A	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			26	3853	-		all_cancers(37;0.0973)	1263					A0PJ88|Q9Y2K8	Silent	SNP	ENST00000379925.3	37	c.3789C>T	CCDS32447.1																																																																																				0.527	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		36	98	0	0	0	0	36	98				
WWOX	51741	broad.mit.edu	37	16	78133748	78133748	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:78133748A>T	ENST00000566780.1	+	1	439	c.73A>T	c.(73-75)Aga>Tga	p.R25*	WWOX_ENST00000406884.2_Nonsense_Mutation_p.R25*|WWOX_ENST00000569818.1_Nonsense_Mutation_p.R25*|WWOX_ENST00000539474.2_Nonsense_Mutation_p.R25*|WWOX_ENST00000402655.2_Nonsense_Mutation_p.R25*|WWOX_ENST00000408984.3_Nonsense_Mutation_p.R25*|WWOX_ENST00000355860.3_Nonsense_Mutation_p.R25*	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	25	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CTGGGAGGAGAGAACCACCAA	0.701											OREG0023952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ffk.2		NA																	0					0						c.(73-75)AGA>TGA		WW domain-containing oxidoreductase isoform 1							22.0	26.0	25.0					16																	78133748		2179	4275	6454	SO:0001587	stop_gained	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78133748A>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.73A>T	16.37:g.78133748A>T	ENSP00000457230:p.Arg25*		OREG0023952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1181	WWOX_uc010vnk.1_5'UTR|WWOX_uc002ffl.2_Nonsense_Mutation_p.R25*|WWOX_uc010che.2_Nonsense_Mutation_p.R25*|WWOX_uc002ffj.1_Nonsense_Mutation_p.R25*|WWOX_uc002ffi.1_Nonsense_Mutation_p.R25*	p.R25*	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	1	198	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	25			WW 1.		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Nonsense_Mutation	SNP	ENST00000566780.1	37	c.73A>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	A	39	7.450894	0.98292	.	.	ENSG00000186153	ENST00000408984;ENST00000355860;ENST00000402655;ENST00000406884;ENST00000539474	.	.	.	4.96	3.84	0.44239	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5608	0.50776	0.6986:0.3014:0.0:0.0	.	.	.	.	X	25	.	ENSP00000348119:R25X	R	+	1	2	WWOX	76691249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.185000	0.58330	0.864000	0.35578	0.459000	0.35465	AGA		0.701	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			5	9	0	0	0	0	5	9				
ATMIN	23300	broad.mit.edu	37	16	81077308	81077308	+	Missense_Mutation	SNP	C	C	T	rs139034682		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:81077308C>T	ENST00000299575.4	+	4	1229	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	ATMIN_ENST00000564241.1_Missense_Mutation_p.T246M|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.T246M	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	402	Required for formation of RAD51 foci.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTAGGGAACACGTGTCAAAAG	0.403																																						uc002ffz.1		NA																	0					0						c.(1204-1206)ACG>ATG		ATM interactor		C	MET/THR	0,4404		0,0,2202	108.0	98.0	102.0		1205	2.6	0.0	16	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ATMIN	NM_015251.2	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	402/824	81077308	1,13003	2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81077308C>T	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1205C>T	16.37:g.81077308C>T	ENSP00000299575:p.Thr402Met					ATMIN_uc002fga.2_Missense_Mutation_p.T244M|ATMIN_uc010vnn.1_Missense_Mutation_p.T173M|ATMIN_uc002fgb.1_Missense_Mutation_p.T244M	p.T402M	NM_015251	NP_056066	O43313	ATMIN_HUMAN			4	1223	+			402			Required for formation of RAD51 foci.		A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1205C>T	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	3.135	-0.177642	0.06380	0.0	1.16E-4	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.03094	4.05	5.91	2.59	0.31030	.	0.963489	0.08679	N	0.909727	T	0.04182	0.0116	L	0.57536	1.79	0.09310	N	1	P	0.47604	0.898	B	0.34138	0.176	T	0.43130	-0.9410	10	0.72032	D	0.01	-0.2194	5.246	0.15496	0.0:0.4237:0.0:0.5763	.	402	O43313	ATMIN_HUMAN	M	402;173	ENSP00000299575:T402M	ENSP00000299575:T402M	T	+	2	0	ATMIN	79634809	0.001000	0.12720	0.003000	0.11579	0.067000	0.16453	1.032000	0.30178	0.817000	0.34445	0.655000	0.94253	ACG		0.403	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		76	140	0	0	0	0	76	140				
CDH15	1013	broad.mit.edu	37	16	89257810	89257810	+	Silent	SNP	C	C	T	rs191491461		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:89257810C>T	ENST00000289746.2	+	9	1370	c.1305C>T	c.(1303-1305)caC>caT	p.H435H		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	435	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		AGACCCAGCACGTGCTCAGCC	0.672																																						uc002fmt.2		NA																	0				skin(1)	1						c.(1303-1305)CAC>CAT		cadherin 15 preproprotein							43.0	39.0	41.0					16																	89257810		2198	4298	6496	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89257810C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1305C>T	16.37:g.89257810C>T							p.H435H	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	9	1382	+			435			Cadherin 4.|Extracellular (Potential).			Silent	SNP	ENST00000289746.2	37	c.1305C>T	CCDS10976.1																																																																																				0.672	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		24	35	0	0	0	0	24	35				
POLR2A	5430	broad.mit.edu	37	17	7415500	7415500	+	Silent	SNP	C	C	T	rs201531764		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:7415500C>T	ENST00000322644.6	+	26	4728	c.4329C>T	c.(4327-4329)gcC>gcT	p.A1443A		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1443					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGGAAGCAGCCGCACACGGTG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18059	0.0		0.001	False		,,,				2504	0.0					uc002ghf.3		NA																	0				pancreas(1)	1						c.(4327-4329)GCC>GCT		DNA-directed RNA polymerase II A							37.0	39.0	39.0					17																	7415500		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7415500C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4329C>T	17.37:g.7415500C>T							p.A1443A	NM_000937	NP_000928	P24928	RPB1_HUMAN			26	4563	+		Prostate(122;0.173)	1443					A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.4329C>T	CCDS32548.1																																																																																				0.617	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		25	47	0	0	0	0	25	47				
TP53	7157	broad.mit.edu	37	17	7578419	7578419	+	Nonsense_Mutation	SNP	C	C	A	rs587781845		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:7578419C>A	ENST00000269305.4	-	5	700	c.511G>T	c.(511-513)Gag>Tag	p.E171*	TP53_ENST00000413465.2_Nonsense_Mutation_p.E171*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Nonsense_Mutation_p.E171*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E171*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E171*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E171*	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	171	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E171K(11)|p.E171*(10)|p.0?(8)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*3(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(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)	CTCACAACCTCCGTCATGTGC	0.662		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)	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		57	Substitution - Missense(17)|Deletion - Frameshift(15)|Substitution - Nonsense(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(2)|Insertion - In frame(1)	p.E171*(10)|p.E171K(8)|p.0?(7)|p.E171G(3)|p.E171Q(3)|p.E171fs*10(3)|p.E171fs*3(2)|p.E171V(2)|p.E171D(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.E171_V172delEV(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E171A(1)|p.H168fs*3(1)	urinary_tract(8)|lung(8)|breast(8)|oesophagus(6)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|large_intestine(3)|stomach(3)|central_nervous_system(3)|skin(3)|upper_aerodigestive_tract(2)|thyroid(1)|kidney(1)|endometrium(1)|liver(1)|ovary(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						c.(511-513)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							52.0	52.0	52.0					17																	7578419		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|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.chr17:7578419C>A	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.511G>T	17.37:g.7578419C>A	ENSP00000269305:p.Glu171*	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_Nonsense_Mutation_p.E171*|TP53_uc002gih.2_Nonsense_Mutation_p.E171*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E39*|TP53_uc010cng.1_Nonsense_Mutation_p.E39*|TP53_uc002gii.1_Nonsense_Mutation_p.E39*|TP53_uc010cnh.1_Nonsense_Mutation_p.E171*|TP53_uc010cni.1_Nonsense_Mutation_p.E171*|TP53_uc002gij.2_Nonsense_Mutation_p.E171*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.E78*|TP53_uc002gio.2_Nonsense_Mutation_p.E39*|TP53_uc010vug.1_Nonsense_Mutation_p.E132*	p.E171*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	705	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	171		E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.511G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186918	0.78789	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.47	5.47	0.80525	.	0.106949	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.8225	17.1938	0.86887	0.0:1.0:0.0:0.0	.	.	.	.	X	171;171;171;171;171;171;160;78;39;78;39	.	ENSP00000269305:E171X	E	-	1	0	TP53	7519144	1.000000	0.71417	0.689000	0.30133	0.389000	0.30415	7.775000	0.85489	2.735000	0.93741	0.563000	0.77884	GAG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		69	45	1	0	4.67e-28	5.21e-28	69	45				
DNAH2	146754	broad.mit.edu	37	17	7734485	7734485	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:7734485C>T	ENST00000572933.1	+	80	13772	c.12312C>T	c.(12310-12312)ggC>ggT	p.G4104G	DNAH2_ENST00000389173.2_Silent_p.G4104G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4104					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATTGCCTGGCATGGACCCCC	0.507																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(12310-12312)GGC>GGT		dynein heavy chain domain 3							188.0	191.0	190.0					17																	7734485		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7734485C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12312C>T	17.37:g.7734485C>T						DNAH2_uc010cnm.1_Silent_p.G1042G	p.G4104G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			79	12326	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4104			TPR 4.		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.12312C>T	CCDS32551.1																																																																																				0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		170	429	0	0	0	0	170	429				
MYH8	4626	broad.mit.edu	37	17	10295236	10295236	+	Missense_Mutation	SNP	G	G	A	rs200825271		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:10295236G>A	ENST00000403437.2	-	39	5721	c.5627C>T	c.(5626-5628)gCg>gTg	p.A1876V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1876					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTCACCTTCGCCTGTAATTT	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(5626-5628)GCG>GTG		myosin, heavy chain 8, skeletal muscle,		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	192.0	184.0	187.0		5627	5.0	1.0	17		187	0,8600		0,0,4300	yes	missense	MYH8	NM_002472.2	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	1876/1938	10295236	2,13004	2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10295236G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5627C>T	17.37:g.10295236G>A	ENSP00000384330:p.Ala1876Val					uc002gml.1_Intron	p.A1876V	NM_002472	NP_002463	P13535	MYH8_HUMAN			39	5722	-			1876			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5627C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367099	0.41902	4.54E-4	0.0	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.78364	-1.17	4.97	4.97	0.65823	Myosin tail (1);	0.384433	0.18737	U	0.132556	T	0.62612	0.2442	N	0.21142	0.635	0.29457	N	0.858041	B	0.09022	0.002	B	0.08055	0.003	T	0.54173	-0.8333	10	0.33940	T	0.23	.	8.4478	0.32852	0.2097:0.0:0.7902:0.0	.	1876	P13535	MYH8_HUMAN	V	1876	ENSP00000384330:A1876V	ENSP00000252173:A1876V	A	-	2	0	MYH8	10235961	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	5.214000	0.65236	2.575000	0.86900	0.650000	0.86243	GCG		0.383	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		115	282	0	0	0	0	115	282				
MPRIP	23164	broad.mit.edu	37	17	17079760	17079760	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:17079760A>G	ENST00000341712.4	+	20	2730	c.2730A>G	c.(2728-2730)gaA>gaG	p.E910E	RN7SL775P_ENST00000498361.2_RNA|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Silent_p.E872E|MPRIP_ENST00000395804.3_Silent_p.E910E|MPRIP_ENST00000395811.5_Silent_p.E910E			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	910						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GGGTAAAGGAATCGGAAATAC	0.532																																						uc002gqu.1		NA																	0					0						c.(2728-2730)GAA>GAG		myosin phosphatase-Rho interacting protein							146.0	151.0	150.0					17																	17079760		2203	4300	6503	SO:0001819	synonymous_variant	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17079760A>G	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2730A>G	17.37:g.17079760A>G						MPRIP_uc002gqv.1_Silent_p.E910E|MPRIP_uc002gqw.1_Silent_p.E665E|MPRIP_uc002gqx.1_Silent_p.E1139E|MPRIP_uc002gqy.1_Silent_p.E1139E|MPRIP_uc010cpl.1_Silent_p.E96E|MPRIP_uc010cpm.1_Silent_p.E96E	p.E910E	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			20	2786	+			910			Potential.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Silent	SNP	ENST00000341712.4	37	c.2730A>G	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.965|6.965	0.548051|0.548051	0.13312|0.13312	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000313485|ENST00000414263	.|.	.|.	.|.	4.76|4.76	-7.99|-7.99	0.01131|0.01131	.|.	.|.	.|.	.|.	.|.	T|T	0.62696|0.62696	0.2449|0.2449	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68678|0.68678	-0.5345|-0.5345	4|4	.|.	.|.	.|.	-14.0816|-14.0816	16.6146|16.6146	0.84903|0.84903	0.5519:0.0:0.4481:0.0|0.5519:0.0:0.4481:0.0	.|.	.|.	.|.	.|.	V|S	1275|976	.|.	.|.	I|N	+|+	1|2	0|0	MPRIP|MPRIP	17020485|17020485	0.330000|0.330000	0.24705|0.24705	0.246000|0.246000	0.24233|0.24233	0.843000|0.843000	0.47879|0.47879	-0.217000|-0.217000	0.09253|0.09253	-1.709000|-1.709000	0.01399|0.01399	-0.379000|-0.379000	0.06801|0.06801	ATC|AAT		0.532	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		77	190	0	0	0	0	77	190				
SPECC1	92521	broad.mit.edu	37	17	20109083	20109083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:20109083C>T	ENST00000261503.5	+	4	1772	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	SPECC1_ENST00000395522.2_Missense_Mutation_p.T493M|SPECC1_ENST00000395530.2_Missense_Mutation_p.T493M|SPECC1_ENST00000395525.3_Missense_Mutation_p.T493M|SPECC1_ENST00000395529.3_Missense_Mutation_p.T574M|SPECC1_ENST00000584527.1_5'Flank|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.T574M	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	574					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.T574M(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GTGGAGCAGACGGCAGAGAGC	0.463																																						uc002gwq.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1720-1722)ACG>ATG		spectrin domain with coiled-coils 1 NSP5b3b							69.0	71.0	70.0					17																	20109083		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20109083C>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1721C>T	17.37:g.20109083C>T	ENSP00000261503:p.Thr574Met					CYTSB_uc010cqx.2_Missense_Mutation_p.T574M|CYTSB_uc002gwr.2_Missense_Mutation_p.T574M|CYTSB_uc002gws.2_Missense_Mutation_p.T574M|CYTSB_uc002gwv.2_Missense_Mutation_p.T493M|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.T350M|CYTSB_uc002gwt.2_Missense_Mutation_p.T493M|CYTSB_uc002gwu.2_Missense_Mutation_p.T493M	p.T574M	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN			4	1866	+			574					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.1721C>T	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	c	1.324	-0.598736	0.03744	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.63744	-0.06;2.94;2.94;2.94	5.59	-11.2	0.00127	.	0.776014	0.13105	N	0.413497	T	0.29749	0.0743	N	0.13043	0.29	0.09310	N	1	B;B;B;B;B	0.19583	0.002;0.037;0.015;0.004;0.017	B;B;B;B;B	0.12837	0.001;0.008;0.005;0.002;0.004	T	0.05115	-1.0905	10	0.33940	T	0.23	-0.2262	4.4285	0.11515	0.0921:0.2221:0.1665:0.5192	.	574;493;493;574;574	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	M	574;574;574;493;493;493	ENSP00000261503:T574M;ENSP00000378900:T574M;ENSP00000378893:T493M;ENSP00000378896:T493M	ENSP00000261503:T574M	T	+	2	0	SPECC1	20049675	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.249000	0.08842	-2.450000	0.00543	-2.933000	0.00087	ACG		0.463	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		53	104	0	0	0	0	53	104				
TRAF4	9618	broad.mit.edu	37	17	27075534	27075534	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:27075534C>T	ENST00000262395.5	+	6	759	c.630C>T	c.(628-630)caC>caT	p.H210H	AC010761.10_ENST00000579468.1_RNA|AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Silent_p.H210H	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	210					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CCCAGAGCCACCAGTACCAGT	0.597																																						uc002hcs.2		NA																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(628-630)CAC>CAT		TNF receptor-associated factor 4							47.0	38.0	41.0					17																	27075534		2203	4300	6503	SO:0001819	synonymous_variant	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27075534C>T	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.630C>T	17.37:g.27075534C>T						TRAF4_uc002hcq.1_Intron	p.H210H	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		6	738	+	Lung NSC(42;0.01)		210			TRAF-type 3.		O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	ENST00000262395.5	37	c.630C>T	CCDS11243.1																																																																																				0.597	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		12	32	0	0	0	0	12	32				
COL1A1	1277	broad.mit.edu	37	17	48263803	48263803	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:48263803C>T	ENST00000225964.5	-	49	3998	c.3880G>A	c.(3880-3882)Gag>Aag	p.E1294K		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1294	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TCACCAGTCTCCATGTTGCAG	0.552			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2		NA		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	0				soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(3880-3882)GAG>AAG		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						144.0	133.0	137.0					17																	48263803		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48263803C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3880G>A	17.37:g.48263803C>T	ENSP00000225964:p.Glu1294Lys						p.E1294K	NM_000088	NP_000079	P02452	CO1A1_HUMAN			49	4006	-			1294			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.3880G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071515	0.76301	.	.	ENSG00000108821	ENST00000225964	T	0.73897	-0.79	4.46	4.46	0.54185	Fibrillar collagen, C-terminal (3);	0.066883	0.56097	U	0.000024	D	0.84347	0.5452	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.85970	0.1476	10	0.56958	D	0.05	.	15.8625	0.79035	0.0:1.0:0.0:0.0	.	1294	P02452	CO1A1_HUMAN	K	1294	ENSP00000225964:E1294K	ENSP00000225964:E1294K	E	-	1	0	COL1A1	45618802	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.781000	0.62389	2.005000	0.58758	0.313000	0.20887	GAG		0.552	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			50	98	0	0	0	0	50	98				
LUC7L3	51747	broad.mit.edu	37	17	48823124	48823124	+	Missense_Mutation	SNP	G	G	A	rs146274793	byFrequency	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:48823124G>A	ENST00000505658.1	+	8	926	c.737G>A	c.(736-738)cGt>cAt	p.R246H	LUC7L3_ENST00000240304.1_Missense_Mutation_p.R246H|LUC7L3_ENST00000544170.1_Missense_Mutation_p.R170H|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R246H			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	246	Arg/Ser-rich.|Glu-rich.				mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						CGTGATGAGCGTCTAAAAAAG	0.363																																						uc002isr.2		NA																	0					0						c.(736-738)CGT>CAT		LUC7-like 3							32.0	33.0	33.0					17																	48823124		2171	4281	6452	SO:0001583	missense	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48823124G>A		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.737G>A	17.37:g.48823124G>A	ENSP00000425092:p.Arg246His					LUC7L3_uc010wmw.1_Missense_Mutation_p.R170H|LUC7L3_uc002isq.2_Missense_Mutation_p.R246H|LUC7L3_uc002iss.2_Missense_Mutation_p.R246H	p.R246H	NM_006107	NP_006098	O95232	LC7L3_HUMAN			8	854	+			246			Arg/Ser-rich.|Glu-rich.		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	c.737G>A	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258266	0.80246	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000544170	T;T;T;T	0.30981	1.51;1.57;1.51;1.57	5.95	5.95	0.96441	.	0.309371	0.34484	N	0.003928	T	0.55641	0.1933	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.81914	0.991;0.991;0.995	T	0.47381	-0.9122	10	0.45353	T	0.12	-8.3748	20.0036	0.97427	0.0:0.0:1.0:0.0	.	170;246;246	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	H	246;246;246;170	ENSP00000425092:R246H;ENSP00000376919:R246H;ENSP00000240304:R246H;ENSP00000444253:R170H	ENSP00000240304:R246H	R	+	2	0	LUC7L3	46178123	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.235000	0.65348	2.824000	0.97209	0.655000	0.94253	CGT		0.363	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		14	26	0	0	0	0	14	26				
BCAS3	54828	broad.mit.edu	37	17	59115302	59115302	+	Silent	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:59115302C>A	ENST00000390652.5	+	19	1891	c.1860C>A	c.(1858-1860)ggC>ggA	p.G620G	BCAS3_ENST00000407086.3_Silent_p.G605G|BCAS3_ENST00000585744.1_Silent_p.G391G|BCAS3_ENST00000588874.1_Silent_p.G376G|BCAS3_ENST00000408905.3_Silent_p.G605G|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000589222.1_Silent_p.G605G|BCAS3_ENST00000588462.1_Silent_p.G620G	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GTTGCTATGGCACCTTAGTGG	0.478																																						uc002iyv.3		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1858-1860)GGC>GGA		breast carcinoma amplified sequence 3 isoform 1							217.0	227.0	224.0					17																	59115302		2116	4230	6346	SO:0001819	synonymous_variant	54828					nucleus		g.chr17:59115302C>A	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1860C>A	17.37:g.59115302C>A						BCAS3_uc010wow.1_Silent_p.G392G|BCAS3_uc002iyu.3_Silent_p.G605G|BCAS3_uc002iyw.3_Silent_p.G601G|BCAS3_uc002iyy.3_Silent_p.G376G|BCAS3_uc002iyz.3_Silent_p.G174G|BCAS3_uc002iza.3_Silent_p.G159G	p.G620G	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		19	1969	+			620						Silent	SNP	ENST00000390652.5	37	c.1860C>A	CCDS45749.1																																																																																				0.478	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		252	113	1	0	8.49e-111	9.62e-111	252	113				
DDX42	11325	broad.mit.edu	37	17	61897782	61897782	+	IGR	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:61897782C>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.D697N	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCCCCCTCATCCTCATTAAAT	0.498																																						uc002jbz.2		NA																	0				ovary(1)	1						c.(2089-2091)GAT>AAT		FtsJ homolog 3							102.0	98.0	99.0					17																	61897782		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897782C>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897782C>T						FTSJ3_uc002jca.2_Missense_Mutation_p.D697N	p.D697N	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN			18	2167	-			697					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.2089G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113313	0.37339	.	.	ENSG00000108592	ENST00000427159	T	0.34072	1.38	4.58	3.61	0.41365	Ribosomal RNA methyltransferase, Spb1, C-terminal (1);	0.829369	0.10840	N	0.628357	T	0.34250	0.0891	L	0.52126	1.63	0.35161	D	0.770633	B	0.06786	0.001	B	0.10450	0.005	T	0.35674	-0.9779	10	0.51188	T	0.08	-2.7275	10.3863	0.44143	0.0:0.9038:0.0:0.0962	.	697	Q8IY81	RRMJ3_HUMAN	N	697	ENSP00000396673:D697N	ENSP00000396673:D697N	D	-	1	0	FTSJ3	59251514	1.000000	0.71417	0.863000	0.33907	0.739000	0.42172	5.642000	0.67888	1.130000	0.42092	0.563000	0.77884	GAT		0.498	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		56	143	0	0	0	0	56	143				
EPB41L3	23136	broad.mit.edu	37	18	5397351	5397351	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr18:5397351C>G	ENST00000341928.2	-	18	2887	c.2547G>C	c.(2545-2547)gaG>gaC	p.E849D	EPB41L3_ENST00000544123.1_Missense_Mutation_p.E680D|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E627D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E154D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E146D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E849D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E627D|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	849	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCACCACCTTCTCAGTGCTAA	0.592																																						uc002kmt.1		NA																	0				ovary(5)	5						c.(2545-2547)GAG>GAC		erythrocyte membrane protein band 4.1-like 3							53.0	56.0	55.0					18																	5397351		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397351C>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2547G>C	18.37:g.5397351C>G	ENSP00000343158:p.Glu849Asp					EPB41L3_uc010wzh.1_Missense_Mutation_p.E680D|EPB41L3_uc002kmu.1_Missense_Mutation_p.E627D|EPB41L3_uc010dkq.1_Missense_Mutation_p.E518D|EPB41L3_uc002kms.1_Missense_Mutation_p.E84D|EPB41L3_uc010wze.1_Missense_Mutation_p.E154D|EPB41L3_uc010wzf.1_Missense_Mutation_p.E146D|EPB41L3_uc010wzg.1_Missense_Mutation_p.E121D|EPB41L3_uc010dkr.2_Missense_Mutation_p.E241D	p.E849D	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			18	2633	-			849			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2547G>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.823051	0.32237	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;T;T;D;D	0.83914	-1.52;-1.72;-1.67;-0.2;-0.22;-1.52;-1.78	5.94	5.08	0.68730	.	0.973186	0.08494	N	0.937467	D	0.90393	0.6993	M	0.72894	2.215	0.41125	D	0.985849	D;D;P;P;B;B;B;P	0.67145	0.992;0.996;0.812;0.773;0.181;0.004;0.262;0.839	D;D;P;P;B;B;B;B	0.75484	0.984;0.986;0.749;0.474;0.036;0.01;0.103;0.2	D	0.83584	0.0119	10	0.38643	T	0.18	.	12.3229	0.54995	0.0:0.8643:0.0:0.1357	.	680;146;154;241;518;627;849;84	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	D	849;518;680;518;146;154;849;627	ENSP00000343158:E849D;ENSP00000442091:E518D;ENSP00000441174:E680D;ENSP00000392195:E146D;ENSP00000442233:E154D;ENSP00000341138:E849D;ENSP00000382981:E627D	ENSP00000343158:E849D	E	-	3	2	EPB41L3	5387351	1.000000	0.71417	0.996000	0.52242	0.029000	0.11900	1.063000	0.30567	1.518000	0.48934	-0.216000	0.12614	GAG		0.592	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		44	69	0	0	0	0	44	69				
RIOK3	8780	broad.mit.edu	37	18	21053506	21053506	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr18:21053506T>A	ENST00000339486.3	+	8	1546	c.929T>A	c.(928-930)tTc>tAc	p.F310Y	RIOK3_ENST00000577501.1_Missense_Mutation_p.F310Y|RIOK3_ENST00000581585.1_Missense_Mutation_p.F294Y	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	310	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAGATGATTTCAGGTTTAAA	0.328																																						uc002kui.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(928-930)TTC>TAC		sudD suppressor of bimD6 homolog							64.0	61.0	62.0					18																	21053506		2203	4300	6503	SO:0001583	missense	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21053506T>A	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.929T>A	18.37:g.21053506T>A	ENSP00000341874:p.Phe310Tyr					RIOK3_uc010dls.2_Missense_Mutation_p.F310Y|RIOK3_uc010xas.1_Missense_Mutation_p.F294Y|RIOK3_uc010xat.1_Intron	p.F310Y	NM_003831	NP_003822	O14730	RIOK3_HUMAN			8	1546	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		310			Protein kinase.		Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	c.929T>A	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250063	0.39797	.	.	ENSG00000101782	ENST00000339486	T	0.06768	3.26	5.05	3.85	0.44370	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.101143	0.64402	N	0.000001	T	0.03564	0.0102	N	0.08118	0	0.45662	D	0.998586	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.12156	0.007;0.004;0.007	T	0.32134	-0.9918	10	0.05833	T	0.94	-1.4679	9.0298	0.36252	0.4708:0.0:0.0:0.5292	.	294;310;310	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	Y	310	ENSP00000341874:F310Y	ENSP00000341874:F310Y	F	+	2	0	RIOK3	19307504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.654000	0.61469	0.731000	0.32448	0.472000	0.43445	TTC		0.328	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		22	56	0	0	0	0	22	56				
ST8SIA3	51046	broad.mit.edu	37	18	55024676	55024676	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr18:55024676G>A	ENST00000324000.3	+	3	2869	c.835G>A	c.(835-837)Gga>Aga	p.G279R		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	279					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GGCTTGGCCGGGAAATATAAT	0.408																																						uc002lgn.2		NA																	0		p.G279E(1)		breast(1)|skin(1)	2						c.(835-837)GGA>AGA		ST8 alpha-N-acetyl-neuraminide							63.0	69.0	67.0					18																	55024676		1952	3684	5636	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024676G>A	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.835G>A	18.37:g.55024676G>A	ENSP00000320431:p.Gly279Arg						p.G279R	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	1192	+			279			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.835G>A	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284356	0.80803	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.13420	2.59	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	L	0.39147	1.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00692	-1.1607	10	0.21540	T	0.41	-21.1495	19.7585	0.96304	0.0:0.0:1.0:0.0	.	279	O43173	SIA8C_HUMAN	R	386;279	ENSP00000320431:G279R	ENSP00000320431:G279R	G	+	1	0	ST8SIA3	53175674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.448000	0.97600	2.773000	0.95371	0.655000	0.94253	GGA		0.408	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		57	142	0	0	0	0	57	142				
DOCK6	57572	broad.mit.edu	37	19	11363491	11363491	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:11363491G>A	ENST00000294618.7	-	3	287	c.276C>T	c.(274-276)tgC>tgT	p.C92C		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	92					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCGTGGTCCGGCATTCCCGGG	0.637																																						uc002mqs.3		NA																	0				ovary(2)|skin(1)	3						c.(274-276)TGC>TGT		dedicator of cytokinesis 6							24.0	27.0	26.0					19																	11363491		1909	4118	6027	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11363491G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.276C>T	19.37:g.11363491G>A							p.C92C	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			3	317	-			92					A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.276C>T	CCDS45975.1																																																																																				0.637	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		3	44	0	0	0	0	3	44				
CACNA1A	773	broad.mit.edu	37	19	13323202	13323202	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:13323202G>C	ENST00000360228.5	-	42	6184	c.6185C>G	c.(6184-6186)tCt>tGt	p.S2062C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S2063C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2063					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGCACCTGAGAGTTAGGCTG	0.647																																						uc010dze.2		NA																	0				large_intestine(2)	2						c.(6187-6189)TCT>TGT		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						28.0	32.0	31.0					19																	13323202		1986	4157	6143	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13323202G>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6185C>G	19.37:g.13323202G>C	ENSP00000353362:p.Ser2062Cys					CACNA1A_uc010xnd.1_Missense_Mutation_p.S768C|CACNA1A_uc002mwx.3_Missense_Mutation_p.S768C|CACNA1A_uc010dzc.2_Missense_Mutation_p.S1588C|CACNA1A_uc002mwy.3_Missense_Mutation_p.S2062C|CACNA1A_uc002mwv.3_Missense_Mutation_p.S579C	p.S2063C	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		42	6424	-			2063			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.6188C>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	9.927	1.213794	0.22289	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.81330	-1.48	4.46	3.42	0.39159	.	0.551776	0.15216	U	0.274212	D	0.85500	0.5711	L	0.50333	1.59	0.29829	N	0.830167	D;D;B;D	0.69078	0.997;0.988;0.005;0.997	P;D;B;P	0.65573	0.848;0.936;0.003;0.848	T	0.81138	-0.1069	10	0.54805	T	0.06	.	13.4522	0.61178	0.0:0.1589:0.8411:0.0	.	2063;2068;2062;2063	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	C	2062;2068;2063;2063	ENSP00000353362:S2062C	ENSP00000317661:S2063C	S	-	2	0	CACNA1A	13184202	1.000000	0.71417	0.975000	0.42487	0.089000	0.18198	5.949000	0.70257	0.889000	0.36185	-0.334000	0.08254	TCT		0.647	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		5	36	0	0	0	0	5	36				
ABHD8	79575	broad.mit.edu	37	19	17412027	17412027	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:17412027G>A	ENST00000247706.3	-	2	638	c.399C>T	c.(397-399)ccC>ccT	p.P133P	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	133							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ctgcgctgccgGGGGCCAAGC	0.716																																					Ovarian(156;1368 2543 15275 41187)	uc002ngb.3		NA																	0					0						c.(397-399)CCC>CCT		abhydrolase domain containing 8																																				SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17412027G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.399C>T	19.37:g.17412027G>A							p.P133P	NM_024527	NP_078803	Q96I13	ABHD8_HUMAN			2	639	-			133					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.399C>T	CCDS12355.1																																																																																				0.716	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		9	14	0	0	0	0	9	14				
ZNF529	57711	broad.mit.edu	37	19	37038095	37038095	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:37038095A>G	ENST00000591340.1	-	5	1523	c.1365T>C	c.(1363-1365)tgT>tgC	p.C455C	ZNF529_ENST00000334116.7_Silent_p.C350C	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					AGAACTTTCCACACTCCTTAC	0.368																																						uc002oeh.3		NA																	0				breast(1)	1						c.(1363-1365)TGT>TGC		zinc finger protein 529 isoform a							84.0	91.0	89.0					19																	37038095		2156	4283	6439	SO:0001819	synonymous_variant	57711				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37038095A>G	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.1365T>C	19.37:g.37038095A>G						ZNF529_uc010xth.1_Silent_p.C455C|ZNF529_uc010xti.1_Silent_p.C437C|ZNF529_uc002oeg.3_Silent_p.C350C	p.C455C	NM_020951	NP_066002	Q6P280	ZN529_HUMAN			5	1567	-	Esophageal squamous(110;0.198)		422			C2H2-type 9.		K7EKE1|Q9H731|Q9HCF7	Silent	SNP	ENST00000591340.1	37	c.1365T>C	CCDS54256.1																																																																																				0.368	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951		25	76	0	0	0	0	25	76				
ZNF546	339327	broad.mit.edu	37	19	40520097	40520097	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:40520097G>A	ENST00000347077.4	+	7	1136	c.920G>A	c.(919-921)gGg>gAg	p.G307E	ZNF546_ENST00000600094.1_Missense_Mutation_p.G281E|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGAATGTGGGAAAGCCTTT	0.408																																						uc002oms.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(919-921)GGG>GAG		zinc finger protein 546							104.0	108.0	107.0					19																	40520097		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520097G>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.920G>A	19.37:g.40520097G>A	ENSP00000339823:p.Gly307Glu					ZNF546_uc002omt.2_Missense_Mutation_p.G281E	p.G307E	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN			7	1176	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		307			C2H2-type 4.		A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.920G>A	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	14.13	2.442465	0.43326	.	.	ENSG00000187187	ENST00000347077	T	0.07114	3.22	2.7	2.7	0.31948	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17323	0.0416	L	0.46741	1.465	0.33109	D	0.54029	D;D	0.89917	0.999;1.0	P;D	0.75020	0.541;0.985	T	0.13308	-1.0514	9	0.66056	D	0.02	.	5.5892	0.17291	0.1509:0.0:0.8491:0.0	.	281;307	B3KVL3;Q86UE3	.;ZN546_HUMAN	E	307	ENSP00000339823:G307E	ENSP00000339823:G307E	G	+	2	0	ZNF546	45211937	0.996000	0.38824	0.876000	0.34364	0.600000	0.36913	1.427000	0.34881	1.786000	0.52430	0.655000	0.94253	GGG		0.408	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		71	158	0	0	0	0	71	158				
LILRA2	11027	broad.mit.edu	37	19	55087422	55087422	+	Silent	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:55087422G>T	ENST00000251377.3	+	7	1234	c.1101G>T	c.(1099-1101)ctG>ctT	p.L367L	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.L355L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.L367L|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.L367L			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	367	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CACTGCATCTGAGATCAGAGC	0.587																																						uc002qgg.3		NA																	0				ovary(1)	1						c.(1099-1101)CTG>CTT		leukocyte immunoglobulin-like receptor,							109.0	91.0	97.0					19																	55087422		2203	4300	6503	SO:0001819	synonymous_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55087422G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1101G>T	19.37:g.55087422G>T						LILRA2_uc010ern.2_Silent_p.L367L|LILRA2_uc002qgf.2_Silent_p.L367L|LILRA2_uc010yfe.1_Silent_p.L367L|LILRA2_uc010yff.1_Silent_p.L355L|LILRA2_uc010ero.2_Silent_p.L355L|LILRA2_uc010yfg.1_Intron	p.L367L	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	6	1190	+			367			Ig-like C2-type 4.|Extracellular (Potential).		O75020	Silent	SNP	ENST00000251377.3	37	c.1101G>T	CCDS46179.1																																																																																				0.587	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			52	82	1	0	4.33e-22	4.78e-22	52	82				
NCR1	9437	broad.mit.edu	37	19	55417683	55417683	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:55417683G>A	ENST00000291890.4	+	2	99	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	NCR1_ENST00000447255.1_Missense_Mutation_p.A21T|NCR1_ENST00000594765.1_Missense_Mutation_p.A21T|NCR1_ENST00000338835.5_Missense_Mutation_p.A21T|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000598576.1_Intron|NCR1_ENST00000350790.5_Missense_Mutation_p.A21T	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	21					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GAGGATCAGCGCCCAGCAGCG	0.612																																						uc002qib.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(61-63)GCC>ACC		natural cytotoxicity triggering receptor 1							98.0	81.0	87.0					19																	55417683		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55417683G>A	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.61G>A	19.37:g.55417683G>A	ENSP00000291890:p.Ala21Thr					NCR1_uc002qic.2_Missense_Mutation_p.A21T|NCR1_uc002qie.2_Missense_Mutation_p.A21T|NCR1_uc002qid.2_Missense_Mutation_p.A21T|NCR1_uc002qif.2_Missense_Mutation_p.A21T|NCR1_uc010esj.2_Intron	p.A21T	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	2	99	+			21					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.61G>A	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	0.313	-0.966521	0.02232	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790	T;T;T;T	0.00504	6.98;7.0;7.11;6.94	3.2	-6.39	0.01951	.	1.401140	0.05204	N	0.505539	T	0.00271	0.0008	N	0.11284	0.12	0.18873	N	0.999988	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001	B;B;B;B;B	0.06405	0.0;0.001;0.0;0.002;0.001	T	0.41840	-0.9486	10	0.25106	T	0.35	.	5.3595	0.16079	0.3463:0.0:0.4136:0.24	.	21;21;21;21;21	B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;NCTR1_HUMAN	T	21	ENSP00000291890:A21T;ENSP00000404434:A21T;ENSP00000339515:A21T;ENSP00000344358:A21T	ENSP00000291890:A21T	A	+	1	0	NCR1	60109495	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.482000	0.00981	-2.509000	0.00505	-1.154000	0.01816	GCC		0.612	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			32	56	0	0	0	0	32	56				
OTOF	9381	broad.mit.edu	37	2	26717900	26717900	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:26717900C>T	ENST00000272371.2	-	9	933	c.807G>A	c.(805-807)ttG>ttA	p.L269L	OTOF_ENST00000403946.3_Silent_p.L269L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	269	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCATGTTCAAGCCCACCA	0.597																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(805-807)TTG>TTA		otoferlin isoform a							92.0	81.0	85.0					2																	26717900		2203	4300	6503	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26717900C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.807G>A	2.37:g.26717900C>T							p.L269L	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			9	934	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		269			Cytoplasmic (Potential).|C2 1.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.807G>A	CCDS1725.1																																																																																				0.597	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			36	86	0	0	0	0	36	86				
NRXN1	9378	broad.mit.edu	37	2	50463980	50463980	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:50463980A>T	ENST00000406316.2	-	18	4969	c.3493T>A	c.(3493-3495)Ttg>Atg	p.L1165M	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000342183.5_Missense_Mutation_p.L130M|NRXN1_ENST00000401710.1_Missense_Mutation_p.L183M|NRXN1_ENST00000402717.3_Missense_Mutation_p.L1157M|NRXN1_ENST00000405472.3_Missense_Mutation_p.L1157M|NRXN1_ENST00000406859.3_Missense_Mutation_p.L1165M|NRXN1_ENST00000401669.2_Missense_Mutation_p.L1165M|NRXN1_ENST00000404971.1_Missense_Mutation_p.L1205M	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1165	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTCGCACCAATACGGCTTCT	0.438																																						uc010fbp.2		NA																	0				ovary(2)	2						c.(388-390)TTG>ATG		neurexin 1 isoform beta precursor							117.0	105.0	109.0					2																	50463980		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50463980A>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3493T>A	2.37:g.50463980A>T	ENSP00000384311:p.Leu1165Met					NRXN1_uc002rxb.3_Missense_Mutation_p.L837M|NRXN1_uc010fbq.2_Missense_Mutation_p.L1205M|NRXN1_uc002rxe.3_Missense_Mutation_p.L1165M|NRXN1_uc002rxc.1_RNA	p.L130M	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1195	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	130			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.388T>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.495462	0.44352	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;D;D;D;D;D;D;D	0.89123	-0.0;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.68	2.04	0.26737	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.47852	U	0.000210	D	0.94515	0.8234	M	0.91354	3.2	0.31714	N	0.639152	D;D;D;D	0.89917	0.993;0.995;1.0;1.0	D;D;D;D	0.91635	0.929;0.969;0.999;0.997	D	0.92845	0.6292	10	0.66056	D	0.02	.	9.6743	0.40032	0.7326:0.0:0.2674:0.0	.	1205;130;1165;1157	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	M	130;84;183;1205;1165;1157;1165;1206;1157;1165	ENSP00000341184:L130M;ENSP00000385580:L183M;ENSP00000385142:L1205M;ENSP00000384311:L1165M;ENSP00000434015:L1157M;ENSP00000385017:L1165M;ENSP00000385434:L1157M;ENSP00000385681:L1165M	ENSP00000341184:L130M	L	-	1	2	NRXN1	50317484	0.110000	0.22057	0.372000	0.25991	0.355000	0.29361	0.689000	0.25437	0.117000	0.18138	-0.263000	0.10527	TTG		0.438	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			27	74	0	0	0	0	27	74				
MAT2A	4144	broad.mit.edu	37	2	85769770	85769770	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:85769770G>A	ENST00000306434.3	+	7	974	c.851G>A	c.(850-852)gGa>gAa	p.G284E	MAT2A_ENST00000409017.1_Missense_Mutation_p.G221E	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	284					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCCTTTTCAGGAAAGGATTAT	0.493																																						uc002spr.2		NA																	0					0						c.(850-852)GGA>GAA		methionine adenosyltransferase II, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						150.0	153.0	152.0					2																	85769770		2203	4300	6503	SO:0001583	missense	4144				methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr2:85769770G>A		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.851G>A	2.37:g.85769770G>A	ENSP00000303147:p.Gly284Glu					MAT2A_uc010ysr.1_Missense_Mutation_p.G284E|MAT2A_uc010fgk.2_Missense_Mutation_p.G258E|MAT2A_uc010fgl.2_Missense_Mutation_p.G221E	p.G284E	NM_005911	NP_005902	P31153	METK2_HUMAN			7	974	+			284					A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	c.851G>A	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952658	0.92660	.	.	ENSG00000168906	ENST00000306434;ENST00000424323;ENST00000409017	D;D	0.99454	-5.92;-5.92	5.9	5.9	0.94986	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);S-adenosylmethionine synthetase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97166	0.9841	10	0.87932	D	0	-6.997	17.7661	0.88478	0.0:0.0:1.0:0.0	.	284;284	B4DEX8;P31153	.;METK2_HUMAN	E	284;65;221	ENSP00000303147:G284E;ENSP00000386353:G221E	ENSP00000303147:G284E	G	+	2	0	MAT2A	85623281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.415000	0.97375	2.793000	0.96121	0.563000	0.77884	GGA		0.493	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		41	76	0	0	0	0	41	76				
TEKT4	150483	broad.mit.edu	37	2	95539278	95539278	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:95539278T>A	ENST00000295201.4	+	2	649	c.512T>A	c.(511-513)aTc>aAc	p.I171N	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	171					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCCGAGCTCATCCGGAACATT	0.607																																						uc002stw.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(511-513)ATC>AAC		tektin 4							74.0	67.0	70.0					2																	95539278		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539278T>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.512T>A	2.37:g.95539278T>A	ENSP00000295201:p.Ile171Asn					uc002stv.1_RNA|TEKT4_uc010fhr.1_RNA	p.I171N	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			2	605	+			171			Potential.			Missense_Mutation	SNP	ENST00000295201.4	37	c.512T>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	16.57	3.161035	0.57368	.	.	ENSG00000163060	ENST00000295201	T	0.04502	3.61	1.71	1.71	0.24356	.	0.000000	0.85682	D	0.000000	T	0.22513	0.0543	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.00872	-1.1532	10	0.87932	D	0	-8.0614	5.3929	0.16253	0.0:0.0:0.0:1.0	.	171	Q8WW24	TEKT4_HUMAN	N	171	ENSP00000295201:I171N	ENSP00000295201:I171N	I	+	2	0	TEKT4	94903005	1.000000	0.71417	0.975000	0.42487	0.837000	0.47467	2.414000	0.44627	0.779000	0.33543	0.254000	0.18369	ATC		0.607	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		31	63	0	0	0	0	31	63				
DBI	1622	broad.mit.edu	37	2	120128364	120128364	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:120128364G>A	ENST00000355857.3	+	3	307	c.176G>A	c.(175-177)tGg>tAg	p.W59*	DBI_ENST00000393103.2_Nonsense_Mutation_p.W60*|DBI_ENST00000535757.1_Nonsense_Mutation_p.W76*|DBI_ENST00000542275.1_Nonsense_Mutation_p.W120*|DBI_ENST00000409094.1_Nonsense_Mutation_p.W76*|DBI_ENST00000535617.1_Nonsense_Mutation_p.W101*|DBI_ENST00000311521.4_Nonsense_Mutation_p.W76*|DBI_ENST00000460901.1_3'UTR	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	59	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						TGGGATGCCTGGAATGAGCTG	0.423																																						uc002tlv.2		NA																	0					0						c.(175-177)TGG>TAG		diazepam binding inhibitor isoform 3							75.0	73.0	74.0					2																	120128364		2203	4300	6503	SO:0001587	stop_gained	1622				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding	g.chr2:120128364G>A	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.176G>A	2.37:g.120128364G>A	ENSP00000348116:p.Trp59*					DBI_uc010yyh.1_Nonsense_Mutation_p.W76*|DBI_uc010yyi.1_Nonsense_Mutation_p.W76*|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Nonsense_Mutation_p.W101*|DBI_uc010yyl.1_Nonsense_Mutation_p.W76*|DBI_uc010yym.1_Nonsense_Mutation_p.W69*|DBI_uc010yyn.1_Nonsense_Mutation_p.W76*|DBI_uc002tlw.2_Nonsense_Mutation_p.W76*|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Nonsense_Mutation_p.W60*	p.W59*	NM_001079862	NP_001073331	P07108	ACBP_HUMAN			3	300	+			59			ACB.		B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Nonsense_Mutation	SNP	ENST00000355857.3	37	c.176G>A	CCDS42740.1	.	.	.	.	.	.	.	.	.	.	G	37	6.054952	0.97241	.	.	ENSG00000155368	ENST00000355857;ENST00000535617;ENST00000535757;ENST00000409094;ENST00000311521;ENST00000542275;ENST00000393103	.	.	.	5.09	5.09	0.68999	.	0.060590	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8848	16.3832	0.83489	0.0:0.0:1.0:0.0	.	.	.	.	X	59;101;76;76;76;120;60	.	ENSP00000311117:W76X	W	+	2	0	DBI	119844834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.332000	0.90024	2.804000	0.96469	0.655000	0.94253	TGG		0.423	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1	NM_020548		15	48	0	0	0	0	15	48				
R3HDM1	23518	broad.mit.edu	37	2	136418927	136418927	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:136418927C>T	ENST00000264160.4	+	18	2381	c.2011C>T	c.(2011-2013)Cta>Tta	p.L671L	R3HDM1_ENST00000410054.1_Silent_p.L616L|R3HDM1_ENST00000409606.1_Silent_p.L672L|R3HDM1_ENST00000409478.1_Silent_p.L543L|R3HDM1_ENST00000329971.3_Silent_p.L542L	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	671							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CAATTCACATCTAAACCAACC	0.458																																						uc002tuo.2		NA																	0				skin(1)	1						c.(2011-2013)CTA>TTA		R3H domain containing 1							123.0	107.0	112.0					2																	136418927		2203	4300	6503	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136418927C>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2011C>T	2.37:g.136418927C>T						R3HDM1_uc010fni.2_Silent_p.L670L|R3HDM1_uc002tup.2_Silent_p.L616L|R3HDM1_uc010zbh.1_Silent_p.L419L	p.L671L	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	18	2381	+			671					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.2011C>T	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	C	9.738	1.164211	0.21538	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	T	0.71392	0.3334	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69296	-0.5182	4	.	.	.	-10.1321	15.1319	0.72530	0.0:0.8589:0.1411:0.0	.	.	.	.	F	394	.	.	S	+	2	0	R3HDM1	136135397	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.220000	0.58567	2.703000	0.92315	0.650000	0.86243	TCT		0.458	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		55	110	0	0	0	0	55	110				
PLA2R1	22925	broad.mit.edu	37	2	160843742	160843742	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:160843742C>A	ENST00000283243.7	-	12	2168	c.1962G>T	c.(1960-1962)gaG>gaT	p.E654D	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E654D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	654					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCTCTTCATACTCTGCTTTTT	0.502																																						uc002ube.1		NA																	0				skin(2)|ovary(1)	3						c.(1960-1962)GAG>GAT		phospholipase A2 receptor 1 isoform 1 precursor							123.0	105.0	111.0					2																	160843742		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160843742C>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1962G>T	2.37:g.160843742C>A	ENSP00000283243:p.Glu654Asp					PLA2R1_uc010zcp.1_Missense_Mutation_p.E654D|PLA2R1_uc002ubf.2_Missense_Mutation_p.E654D	p.E654D	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			12	2169	-			654			Extracellular (Potential).		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.1962G>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	7.532	0.658861	0.14645	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.07908	3.2;3.15	6.17	-3.2	0.05156	.	0.368747	0.30781	N	0.008895	T	0.10465	0.0256	M	0.75777	2.31	0.09310	N	1	P;P;B	0.37663	0.474;0.604;0.418	B;B;B	0.42771	0.199;0.397;0.169	T	0.11084	-1.0602	10	0.38643	T	0.18	.	5.4038	0.16310	0.095:0.2611:0.0935:0.5504	.	654;654;654	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	D	654	ENSP00000283243:E654D;ENSP00000376524:E654D	ENSP00000283243:E654D	E	-	3	2	PLA2R1	160551988	0.167000	0.22975	0.001000	0.08648	0.206000	0.24218	-0.125000	0.10579	-0.529000	0.06358	-0.136000	0.14681	GAG		0.502	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			57	112	1	0	2.12e-23	2.35e-23	57	112				
GRB14	2888	broad.mit.edu	37	2	165378524	165378524	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:165378524G>C	ENST00000263915.3	-	6	1320	c.782C>G	c.(781-783)tCt>tGt	p.S261C	GRB14_ENST00000543549.1_Missense_Mutation_p.S174C	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	261	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ATATAAACCAGATCTTCTTAG	0.313																																						uc002ucl.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(781-783)TCT>TGT		growth factor receptor-bound protein 14							50.0	56.0	54.0					2																	165378524		2201	4279	6480	SO:0001583	missense	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165378524G>C		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.782C>G	2.37:g.165378524G>C	ENSP00000263915:p.Ser261Cys					GRB14_uc010zcv.1_Missense_Mutation_p.S174C|GRB14_uc002ucm.2_RNA	p.S261C	NM_004490	NP_004481	Q14449	GRB14_HUMAN			6	1323	-			261			PH.		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	c.782C>G	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323374	0.81580	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.77750	-1.12;-1.12;-1.12	5.78	4.89	0.63831	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89536	0.6743	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91652	0.5335	10	0.87932	D	0	-15.925	16.4847	0.84181	0.0:0.0:0.8677:0.1323	.	174;261	B7Z7F9;Q14449	.;GRB14_HUMAN	C	261;174;216	ENSP00000263915:S261C;ENSP00000443699:S174C;ENSP00000416786:S216C	ENSP00000263915:S261C	S	-	2	0	GRB14	165086770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	1.561000	0.49584	0.655000	0.94253	TCT		0.313	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			40	107	0	0	0	0	40	107				
XIRP2	129446	broad.mit.edu	37	2	168067394	168067394	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:168067394T>A	ENST00000409728.1	+	5	900	c.811T>A	c.(811-813)Ttc>Atc	p.F271I	XIRP2_ENST00000409756.2_Missense_Mutation_p.F238I|XIRP2_ENST00000409605.1_Missense_Mutation_p.F16I|XIRP2_ENST00000409195.1_Missense_Mutation_p.F238I|XIRP2_ENST00000409273.1_Missense_Mutation_p.F16I|XIRP2_ENST00000295237.9_Missense_Mutation_p.F238I|XIRP2_ENST00000409043.1_Missense_Mutation_p.F238I|XIRP2_ENST00000420519.1_Missense_Mutation_p.F271I	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	63					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGCCGCAGCTTCTCTGCTAA	0.512																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(712-714)TTC>ATC		xin actin-binding repeat containing 2 isoform 1							68.0	72.0	71.0					2																	168067394		2018	4185	6203	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168067394T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.811T>A	2.37:g.168067394T>A	ENSP00000386619:p.Phe271Ile					XIRP2_uc010fpn.2_Missense_Mutation_p.F271I|XIRP2_uc010fpo.2_Missense_Mutation_p.F238I|XIRP2_uc010fpp.2_Missense_Mutation_p.F238I|XIRP2_uc002udy.2_Missense_Mutation_p.F63I|XIRP2_uc010fpq.2_Missense_Mutation_p.F16I|XIRP2_uc010fpr.2_Missense_Mutation_p.F16I	p.F238I	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			3	730	+			63					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.712T>A	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.879218	0.91740	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.78816	-1.21;-1.17;4.16;-1.21;-1.17;4.16;4.23;-1.15	5.93	5.93	0.95920	.	0.182839	0.51477	D	0.000100	D	0.85877	0.5799	M	0.62723	1.935	0.33984	D	0.648283	D;D;D;D;D	0.89917	0.999;0.996;0.996;1.0;1.0	D;D;D;D;D	0.77557	0.937;0.99;0.99;0.983;0.975	D	0.89982	0.4101	10	0.51188	T	0.08	-5.9148	14.3391	0.66614	0.0:0.0:0.0:1.0	.	63;238;271;63;16	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	I	238;271;238;238;271;238;16;16	ENSP00000386454:F238I;ENSP00000386619:F271I;ENSP00000386840:F238I;ENSP00000386724:F238I;ENSP00000415541:F271I;ENSP00000295237:F238I;ENSP00000387255:F16I;ENSP00000386981:F16I	ENSP00000295237:F238I	F	+	1	0	XIRP2	167775640	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.248000	0.51430	2.265000	0.75225	0.533000	0.62120	TTC		0.512	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		32	99	0	0	0	0	32	99				
BARD1	580	broad.mit.edu	37	2	215645700	215645700	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:215645700G>T	ENST00000260947.4	-	4	1032	c.898C>A	c.(898-900)Cct>Act	p.P300T	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.P156T	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	300					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACCTTCTCAGGAGTCACTACT	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2		NA																	0				lung(2)	2						c.(898-900)CCT>ACT		BRCA1 associated RING domain 1							80.0	80.0	80.0					2																	215645700		2203	4298	6501	SO:0001583	missense	580	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645700G>T		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.898C>A	2.37:g.215645700G>T	ENSP00000260947:p.Pro300Thr					BARD1_uc010zjm.1_Missense_Mutation_p.P156T	p.P300T	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	1033	-		Renal(323;0.0243)	300					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.898C>A	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599565	0.46318	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.73152	-0.72;-0.15	5.62	3.79	0.43588	.	0.766675	0.12130	N	0.496811	T	0.68485	0.3006	M	0.67953	2.075	0.09310	N	1	P;P	0.43094	0.799;0.78	B;B	0.40636	0.252;0.335	T	0.61148	-0.7121	10	0.52906	T	0.07	-0.0422	9.6567	0.39930	0.2588:0.0:0.7412:0.0	.	156;300	E7EUI3;Q99728	.;BARD1_HUMAN	T	300;156	ENSP00000260947:P300T;ENSP00000406752:P156T	ENSP00000260947:P300T	P	-	1	0	BARD1	215353945	0.971000	0.33674	0.032000	0.17829	0.553000	0.35397	1.352000	0.34033	1.501000	0.48654	0.655000	0.94253	CCT		0.383	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		46	138	1	0	3.55e-21	3.91e-21	46	138				
ISM1	140862	broad.mit.edu	37	20	13251361	13251361	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:13251361G>C	ENST00000262487.4	+	2	355	c.349G>C	c.(349-351)Gat>Cat	p.D117H	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	117						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TTCCAAAGCTGATATCAATGG	0.443																																						uc010gce.1		NA																	0					0						c.(349-351)GAT>CAT		isthmin 1 homolog precursor							71.0	66.0	68.0					20																	13251361		1852	4098	5950	SO:0001583	missense	140862					extracellular region		g.chr20:13251361G>C	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.349G>C	20.37:g.13251361G>C	ENSP00000262487:p.Asp117His					TASP1_uc010zri.1_Intron	p.D117H	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			2	355	+			117					Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.349G>C	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.618917	0.87460	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.60299	0.2;0.3	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.74959	0.3785	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75932	-0.3143	10	0.87932	D	0	-22.2274	19.8633	0.96793	0.0:0.0:1.0:0.0	.	117	B1AKI9	ISM1_HUMAN	H	117;71	ENSP00000262487:D117H;ENSP00000409938:D71H	ENSP00000262487:D117H	D	+	1	0	ISM1	13199361	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.229000	0.95273	2.697000	0.92050	0.591000	0.81541	GAT		0.443	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			7	45	0	0	0	0	7	45				
PYGB	5834	broad.mit.edu	37	20	25262777	25262777	+	Silent	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:25262777C>A	ENST00000216962.4	+	12	1622	c.1512C>A	c.(1510-1512)atC>atA	p.I504I		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	504					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CCGATACCATCGTGGAGGTGA	0.622																																						uc002wup.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1510-1512)ATC>ATA		brain glycogen phosphorylase	Pyridoxal Phosphate(DB00114)						32.0	38.0	36.0					20																	25262777		2201	4300	6501	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25262777C>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1512C>A	20.37:g.25262777C>A							p.I504I	NM_002862	NP_002853	P11216	PYGB_HUMAN			12	1621	+			504					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.1512C>A	CCDS13171.1																																																																																				0.622	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		5	47	1	0	0.000673444	0.000691547	5	47				
TTLL9	164395	broad.mit.edu	37	20	30497542	30497542	+	Silent	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:30497542G>T	ENST00000375938.4	+	6	574	c.321G>T	c.(319-321)ctG>ctT	p.L107L	TTLL9_ENST00000310998.4_Silent_p.L57L|TTLL9_ENST00000535842.1_Silent_p.L107L|TTLL9_ENST00000375922.4_Silent_p.L57L|TTLL9_ENST00000375921.2_Silent_p.L57L|TTLL9_ENST00000375934.4_Silent_p.L89L			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	107	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCACCCAGCTGACCCGGAAGA	0.632																																						uc010gdx.1		NA																	0				ovary(2)	2						c.(319-321)CTG>CTT		tubulin tyrosine ligase-like family, member 9							25.0	28.0	27.0					20																	30497542		2092	4218	6310	SO:0001819	synonymous_variant	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30497542G>T	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.321G>T	20.37:g.30497542G>T						TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	p.L107L	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		6	574	+			107			TTL.		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Silent	SNP	ENST00000375938.4	37	c.321G>T	CCDS42863.1																																																																																				0.632	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		16	53	1	0	1.57e-10	1.68e-10	16	53				
KCNS1	3787	broad.mit.edu	37	20	43726837	43726837	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:43726837C>T	ENST00000306117.1	-	4	972	c.576G>A	c.(574-576)gcG>gcA	p.A192A	KCNS1_ENST00000537075.1_Silent_p.A192A	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	192					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	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(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CGCCATAGCGCGCCAGTTCTC	0.716																																						uc002xnc.2		NA																	0					0						c.(574-576)GCG>GCA		potassium voltage-gated channel							12.0	11.0	11.0					20																	43726837		2108	4143	6251	SO:0001819	synonymous_variant	3787					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding	g.chr20:43726837C>T	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.576G>A	20.37:g.43726837C>T						KCNS1_uc002xnd.2_Silent_p.A192A	p.A192A	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN			4	973	-		Myeloproliferative disorder(115;0.0122)	192			Cytoplasmic (Potential).		A2RUL9|B7ZM31|O43652|Q6DJU6	Silent	SNP	ENST00000306117.1	37	c.576G>A	CCDS13342.1																																																																																				0.716	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		7	24	0	0	0	0	7	24				
RHBDD3	25807	broad.mit.edu	37	22	29654896	29654896	+	IGR	SNP	G	G	A	rs138347786	byFrequency	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:29654896G>A	ENST00000216085.7	-	0	1794				EMID1_ENST00000334018.6_Missense_Mutation_p.R432Q|EMID1_ENST00000404755.3_Missense_Mutation_p.R411Q|EMID1_ENST00000404820.3_Missense_Mutation_p.R434Q|CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3						liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						ACCAACTACCGGATCGTGGCC	0.716													G|||	7	0.00139776	0.0053	0.0	5008	,	,		14831	0.0		0.0	False		,,,				2504	0.0					uc003aen.2		NA																	0					0						c.(1288-1290)CGG>CAG		EMI domain containing 1		G	GLN/ARG	4,4398	8.1+/-20.4	0,4,2197	26.0	34.0	32.0		1295	1.8	1.0	22	dbSNP_134	32	0,8598		0,0,4299	no	missense	EMID1	NM_133455.2	43	0,4,6496	AA,AG,GG		0.0,0.0909,0.0308	benign	432/444	29654896	4,12996	2201	4299	6500	SO:0001628	intergenic_variant	129080					collagen		g.chr22:29654896G>A	AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 3"""	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032		22.37:g.29654896G>A						EMID1_uc003aem.2_Missense_Mutation_p.R432Q|EMID1_uc003aeo.2_Missense_Mutation_p.R434Q|EMID1_uc003aep.2_Missense_Mutation_p.R411Q	p.R430Q	NM_133455	NP_597712	Q96A84	EMID1_HUMAN			15	1364	+			430					Q6I9X3|Q9UGQ7	Missense_Mutation	SNP	ENST00000216085.7	37	c.1289G>A	CCDS13850.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449936	0.63290	9.09E-4	0.0	ENSG00000186998	ENST00000334018;ENST00000404755;ENST00000404820	D;D;D	0.90261	-2.62;-2.54;-2.64	5.04	1.82	0.25136	.	0.317752	0.22920	N	0.054031	D	0.83788	0.5330	L	0.48642	1.525	0.35158	D	0.77039	B;B;B;B	0.26002	0.086;0.079;0.022;0.139	B;B;B;B	0.14578	0.007;0.006;0.003;0.011	T	0.78692	-0.2105	10	0.42905	T	0.14	-8.2784	6.3863	0.21561	0.1701:0.1521:0.6778:0.0	.	411;434;430;432	B0QYK4;B0QYK5;Q96A84;Q96A84-3	.;.;EMID1_HUMAN;.	Q	432;411;434	ENSP00000335481:R432Q;ENSP00000385414:R411Q;ENSP00000384452:R434Q	ENSP00000335481:R432Q	R	+	2	0	EMID1	27984896	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.784000	0.38674	0.305000	0.22832	0.561000	0.74099	CGG		0.716	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		23	47	0	0	0	0	23	47				
LARGE	9215	broad.mit.edu	37	22	34046371	34046371	+	Silent	SNP	C	C	A	rs114558328		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:34046371C>A	ENST00000354992.2	-	4	961	c.390G>T	c.(388-390)ccG>ccT	p.P130P	LARGE_ENST00000402320.1_Silent_p.P130P|LARGE_ENST00000437602.2_Silent_p.P130P|LARGE_ENST00000397394.2_Silent_p.P130P|LARGE_ENST00000337431.2_Silent_p.P130P	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	130					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCTCCACGACCGGCTGCTGCC	0.597																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(388-390)CCG>CCT		like-glycosyltransferase							76.0	80.0	79.0					22																	34046371		2193	4273	6466	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046371C>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.390G>T	22.37:g.34046371C>A						LARGE_uc003ane.3_Silent_p.P130P|LARGE_uc010gwp.2_Silent_p.P130P|LARGE_uc011ame.1_Silent_p.P62P|LARGE_uc011amf.1_Silent_p.P130P	p.P130P	NM_004737	NP_004728	O95461	LARGE_HUMAN			4	969	-		Lung NSC(1;0.219)	130			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.390G>T	CCDS13912.1																																																																																				0.597	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		52	143	1	0	2.17e-29	2.42e-29	52	143				
CSF2RB	1439	broad.mit.edu	37	22	37325494	37325494	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:37325494T>A	ENST00000403662.3	+	5	664	c.442T>A	c.(442-444)Ttc>Atc	p.F148I	CSF2RB_ENST00000406230.1_Missense_Mutation_p.F148I|CSF2RB_ENST00000536485.1_Missense_Mutation_p.F89I|CSF2RB_ENST00000262825.5_Missense_Mutation_p.F148I			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	148	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCAGGACCACTTCCTGCTGAC	0.637																																						uc003aqa.3		NA																	0				skin(2)|pancreas(1)	3						c.(442-444)TTC>ATC		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						104.0	103.0	103.0					22																	37325494		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37325494T>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.442T>A	22.37:g.37325494T>A	ENSP00000384053:p.Phe148Ile					CSF2RB_uc003aqc.3_Missense_Mutation_p.F148I	p.F148I	NM_000395	NP_000386	P32927	IL3RB_HUMAN			5	659	+			148			Fibronectin type-III 1.|Extracellular (Potential).		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.442T>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240799	0.79912	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.22	-1.06	0.10002	Fibronectin, type III (3);Immunoglobulin-like fold (1);	4.354250	0.00397	N	0.000040	T	0.60625	0.2283	M	0.68952	2.095	0.19300	N	0.999974	D;D	0.55800	0.962;0.973	B;B	0.42138	0.351;0.377	T	0.54153	-0.8336	10	0.62326	D	0.03	-8.2379	6.0388	0.19722	0.0:0.1523:0.4118:0.4359	.	148;148	P32927-2;P32927	.;IL3RB_HUMAN	I	148;148;148;148;68;89	ENSP00000384053:F148I;ENSP00000262825:F148I;ENSP00000385271:F148I;ENSP00000393585:F68I;ENSP00000440003:F89I	ENSP00000262825:F148I	F	+	1	0	CSF2RB	35655440	0.057000	0.20700	0.015000	0.15790	0.735000	0.41995	0.313000	0.19415	-0.515000	0.06479	0.533000	0.62120	TTC		0.637	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		99	184	0	0	0	0	99	184				
MEI1	150365	broad.mit.edu	37	22	42180639	42180639	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:42180639C>T	ENST00000401548.3	+	26	3237	c.3197C>T	c.(3196-3198)gCc>gTc	p.A1066V	MEI1_ENST00000400107.1_Missense_Mutation_p.A399V|MEI1_ENST00000300398.4_Missense_Mutation_p.A74V|MEI1_ENST00000476893.1_3'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGCGGACAGCCCTGCGACAA	0.597																																						uc003baz.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(3196-3198)GCC>GTC		meiosis defective 1							45.0	47.0	46.0					22																	42180639		2029	4178	6207	SO:0001583	missense	150365						binding	g.chr22:42180639C>T	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3197C>T	22.37:g.42180639C>T	ENSP00000384115:p.Ala1066Val					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.A452V|MEI1_uc003bbc.1_Missense_Mutation_p.A434V|MEI1_uc010gym.1_Missense_Mutation_p.A399V|MEI1_uc003bbd.1_Missense_Mutation_p.A309V|MEI1_uc010gyn.1_Intron|MEI1_uc003bbe.1_RNA|MEI1_uc011apf.1_Missense_Mutation_p.A80V|MEI1_uc010gyo.1_Intron|MEI1_uc003bbf.2_Missense_Mutation_p.A80V|MEI1_uc003bbg.2_Missense_Mutation_p.A80V	p.A1066V	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			26	3222	+			1066						Missense_Mutation	SNP	ENST00000401548.3	37	c.3197C>T	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889155	0.52014	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000300398;ENST00000419798;ENST00000403492	T;T;T;T	0.65549	-0.1;-0.1;-0.16;-0.16	5.56	4.42	0.53409	.	0.957804	0.08742	N	0.900404	T	0.52996	0.1769	L	0.54323	1.7	0.25412	N	0.988344	P;B;B;B;B;P	0.51933	0.873;0.264;0.002;0.004;0.208;0.949	B;B;B;B;B;B	0.43052	0.306;0.055;0.007;0.018;0.063;0.406	T	0.40646	-0.9552	10	0.02654	T	1	-18.9243	7.2609	0.26203	0.0:0.7688:0.0:0.2312	.	80;399;176;309;434;1066	B7Z735;Q5TIA1-3;E9PB79;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;.;.;MEI1_HUMAN	V	1066;399;74;176;74	ENSP00000384115:A1066V;ENSP00000382978:A399V;ENSP00000300398:A74V;ENSP00000385298:A74V	ENSP00000300398:A74V	A	+	2	0	MEI1	40510585	0.076000	0.21285	0.996000	0.52242	0.991000	0.79684	1.460000	0.35244	1.115000	0.41800	0.558000	0.71614	GCC		0.597	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		3	60	0	0	0	0	3	60				
CNOT10	25904	broad.mit.edu	37	3	32750219	32750219	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:32750219T>A	ENST00000328834.5	+	4	653	c.337T>A	c.(337-339)Tac>Aac	p.Y113N	CNOT10_ENST00000331889.6_Missense_Mutation_p.Y113N|CNOT10_ENST00000454516.2_Missense_Mutation_p.Y173N|CNOT10_ENST00000538368.1_5'UTR	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	113					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Y113H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAGCATGTTGTACTATAATCA	0.348																																						uc003cfc.1		NA																	1	Substitution - Missense(1)		endometrium(1)	central_nervous_system(1)|skin(1)	2						c.(337-339)TAC>AAC		CCR4-NOT transcription complex, subunit 10							139.0	134.0	136.0					3																	32750219		2203	4300	6503	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32750219T>A	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.337T>A	3.37:g.32750219T>A	ENSP00000330060:p.Tyr113Asn					CNOT10_uc011axi.1_5'UTR|CNOT10_uc003cfd.1_Missense_Mutation_p.Y113N|CNOT10_uc003cfe.1_Missense_Mutation_p.Y113N|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.Y173N|CNOT10_uc010hfw.1_5'UTR	p.Y113N	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN			4	592	+			113					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.337T>A	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.393555	0.83011	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000540405;ENST00000454516	T;T;T	0.77098	-1.07;-1.07;-1.07	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.061993	0.64402	D	0.000002	T	0.81202	0.4773	L	0.41710	1.295	0.80722	D	1	D;P;D;D	0.59767	0.969;0.911;0.986;0.976	P;P;P;P	0.59487	0.656;0.563;0.858;0.556	T	0.80743	-0.1246	10	0.39692	T	0.17	-18.4164	15.6222	0.76816	0.0:0.0:0.0:1.0	.	173;113;113;113	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	N	113;113;13;173	ENSP00000329376:Y113N;ENSP00000330060:Y113N;ENSP00000399862:Y173N	ENSP00000330060:Y113N	Y	+	1	0	CNOT10	32725223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.243000	0.72384	2.087000	0.62958	0.460000	0.39030	TAC		0.348	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		49	47	0	0	0	0	49	47				
LIMD1	8994	broad.mit.edu	37	3	45636953	45636953	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:45636953A>G	ENST00000273317.4	+	1	603	c.582A>G	c.(580-582)ccA>ccG	p.P194P	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Silent_p.P194P	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	194	Interaction with EGLN1/PHD2.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GTGACAAACCAGGAGTGTCCC	0.607																																						uc003coq.2		NA																	0				ovary(1)	1						c.(580-582)CCA>CCG		LIM domains containing 1							85.0	82.0	83.0					3																	45636953		2203	4300	6503	SO:0001819	synonymous_variant	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636953A>G	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.582A>G	3.37:g.45636953A>G							p.P194P	NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	631	+			194					Q17RQ1|Q9BQQ9|Q9NQ47	Silent	SNP	ENST00000273317.4	37	c.582A>G	CCDS2729.1																																																																																				0.607	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		48	49	0	0	0	0	48	49				
DTX3L	151636	broad.mit.edu	37	3	122287599	122287599	+	Silent	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:122287599T>A	ENST00000296161.4	+	3	852	c.663T>A	c.(661-663)tcT>tcA	p.S221S	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	221					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GCTGCATTTCTCCTTCTGAAC	0.413																																						uc003efk.2		NA																	0				ovary(2)|lung(1)|breast(1)	4						c.(661-663)TCT>TCA		deltex 3-like							64.0	65.0	65.0					3																	122287599		2203	4300	6503	SO:0001819	synonymous_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122287599T>A		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.663T>A	3.37:g.122287599T>A						DTX3L_uc010hrj.2_Intron	p.S221S	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	752	+			221					B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	c.663T>A	CCDS3015.1																																																																																				0.413	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		26	47	0	0	0	0	26	47				
DNAJC13	23317	broad.mit.edu	37	3	132215495	132215495	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:132215495C>T	ENST00000260818.6	+	36	4392	c.4144C>T	c.(4144-4146)Cgt>Tgt	p.R1382C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1382					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CCTCTTCAACCGTCATAAAGA	0.348																																						uc003eor.2		NA																	0				ovary(1)|breast(1)	2						c.(4144-4146)CGT>TGT		DnaJ (Hsp40) homolog, subfamily C, member 13							68.0	73.0	71.0					3																	132215495		2203	4296	6499	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132215495C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4144C>T	3.37:g.132215495C>T	ENSP00000260818:p.Arg1382Cys						p.R1382C	NM_015268	NP_056083	O75165	DJC13_HUMAN			36	4209	+			1382					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.4144C>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825264	0.71143	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.48522	0.81	5.26	5.26	0.73747	Armadillo-type fold (1);	0.062048	0.64402	D	0.000004	T	0.71230	0.3315	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75969	-0.3130	10	0.87932	D	0	.	12.4261	0.55548	0.2804:0.7196:0.0:0.0	.	1382	O75165	DJC13_HUMAN	C	1382;29	ENSP00000260818:R1382C	ENSP00000260818:R1382C	R	+	1	0	DNAJC13	133698185	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.762000	0.55250	2.630000	0.89119	0.650000	0.86243	CGT		0.348	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		22	170	0	0	0	0	22	170				
PPP2R3A	5523	broad.mit.edu	37	3	135797293	135797293	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:135797293C>A	ENST00000264977.3	+	7	3246	c.2629C>A	c.(2629-2631)Caa>Aaa	p.Q877K	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.Q256K|PPP2R3A_ENST00000492624.2_Missense_Mutation_p.Q141K|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.Q141K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	877					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAACTTTTTGCAAGTATGCCT	0.318																																						uc003eqv.1		NA																	0				ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(2629-2631)CAA>AAA		protein phosphatase 2, regulatory subunit B'',							56.0	55.0	55.0					3																	135797293		2203	4297	6500	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135797293C>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2629C>A	3.37:g.135797293C>A	ENSP00000264977:p.Gln877Lys					PPP2R3A_uc011blz.1_Missense_Mutation_p.Q141K|PPP2R3A_uc003eqw.1_Missense_Mutation_p.Q256K|PPP2R3A_uc011bma.1_RNA	p.Q877K	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			7	3194	+			877					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.2629C>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035486	0.75617	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546;ENST00000492624	T;T;T;T	0.45276	0.9;0.9;0.9;1.52	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	M	0.71920	2.185	0.50467	D	0.999874	P;P	0.41420	0.544;0.749	B;P	0.50896	0.341;0.653	T	0.60949	-0.7161	10	0.59425	D	0.04	.	16.9792	0.86322	0.0:1.0:0.0:0.0	.	256;877	Q06190-2;Q06190	.;P2R3A_HUMAN	K	877;141;256;141	ENSP00000264977:Q877K;ENSP00000419344:Q141K;ENSP00000334748:Q256K;ENSP00000417231:Q141K	ENSP00000264977:Q877K	Q	+	1	0	PPP2R3A	137279983	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.725000	0.74752	2.480000	0.83734	0.655000	0.94253	CAA		0.318	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		22	80	1	0	0.00229938	0.00234856	22	80				
ARL14	80117	broad.mit.edu	37	3	160395542	160395542	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:160395542C>T	ENST00000320767.2	+	1	595	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	136					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			CTGAGGACATCACCAGAATGT	0.488																																						uc003fdq.2		NA																	0					0						c.(406-408)ATC>ATT		ADP-ribosylation factor-like 14							55.0	51.0	53.0					3																	160395542		2203	4300	6503	SO:0001819	synonymous_variant	80117				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr3:160395542C>T	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22974	protein-coding gene	gene with protein product		614439	"""ADP-ribosylation factor 7"""	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.408C>T	3.37:g.160395542C>T							p.I136I	NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		1	595	+			136					Q9H655	Silent	SNP	ENST00000320767.2	37	c.408C>T	CCDS3192.1																																																																																				0.488	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047		34	99	0	0	0	0	34	99				
PLD1	5337	broad.mit.edu	37	3	171406608	171406608	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:171406608T>C	ENST00000351298.4	-	14	1523	c.1397A>G	c.(1396-1398)aAg>aGg	p.K466R	PLD1_ENST00000340989.4_Missense_Mutation_p.K466R|PLD1_ENST00000356327.5_Missense_Mutation_p.K466R|PLD1_ENST00000342215.6_Missense_Mutation_p.K466R	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	466	Catalytic.|PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GATGACAAGCTTCTCATGGTG	0.498																																					NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	0				ovary(2)|lung(1)	3						c.(1396-1398)AAG>AGG		phospholipase D1 isoform a	Choline(DB00122)						119.0	98.0	105.0					3																	171406608		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171406608T>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1397A>G	3.37:g.171406608T>C	ENSP00000342793:p.Lys466Arg					PLD1_uc003fht.2_Missense_Mutation_p.K466R	p.K466R	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		14	1513	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		466			PLD phosphodiesterase 1.|Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.1397A>G	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.020159	0.93462	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.3	5.3	0.74995	Phospholipase D/Transphosphatidylase (3);	0.093993	0.64402	D	0.000001	D	0.87128	0.6100	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.981;0.992	D	0.92207	0.5773	10	0.87932	D	0	-26.3031	15.5395	0.76031	0.0:0.0:0.0:1.0	.	489;466	Q59EA4;Q13393	.;PLD1_HUMAN	R	466	ENSP00000348681:K466R;ENSP00000342793:K466R;ENSP00000339936:K466R;ENSP00000340326:K466R	ENSP00000340326:K466R	K	-	2	0	PLD1	172889302	1.000000	0.71417	0.991000	0.47740	0.835000	0.47333	7.972000	0.88022	2.129000	0.65627	0.533000	0.62120	AAG		0.498	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		20	109	0	0	0	0	20	109				
NLGN1	22871	broad.mit.edu	37	3	173993199	173993199	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:173993199C>T	ENST00000457714.1	+	5	1170	c.741C>T	c.(739-741)ttC>ttT	p.F247F	NLGN1_ENST00000361589.4_Silent_p.F247F|NLGN1_ENST00000401917.3_Silent_p.F287F|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Silent_p.F247F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	264					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.F247L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACATTGGATTCTTTGGTGGTG	0.438																																						uc003fio.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(739-741)TTC>TTT		neuroligin 1							104.0	102.0	103.0					3																	173993199		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173993199C>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.741C>T	3.37:g.173993199C>T						NLGN1_uc010hww.1_Silent_p.F287F|NLGN1_uc003fip.1_Silent_p.F247F	p.F247F	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		5	1164	+	Ovarian(172;0.0025)		264			Extracellular (Potential).		Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.741C>T	CCDS3222.1																																																																																				0.438	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		50	205	0	0	0	0	50	205				
OSTN	344901	broad.mit.edu	37	3	190930421	190930421	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:190930421G>C	ENST00000339051.1	+	1	100	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	OSTN-AS1_ENST00000430375.1_RNA|OSTN_ENST00000445281.1_Missense_Mutation_p.E34Q	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	34					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		AACAACAACAGAGGTAATGGA	0.348																																						uc011bsn.1		NA																	0				pancreas(1)|skin(1)	2						c.(100-102)GAG>CAG		osteocrin precursor							89.0	78.0	82.0					3																	190930421		2203	4300	6503	SO:0001583	missense	344901				cell differentiation|multicellular organismal development|ossification		hormone activity	g.chr3:190930421G>C	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.100G>C	3.37:g.190930421G>C	ENSP00000342356:p.Glu34Gln						p.E34Q	NM_198184	NP_937827	P61366	OSTN_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)	1	100	+	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		34					A1A4U3	Missense_Mutation	SNP	ENST00000339051.1	37	c.100G>C	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	G	5.429	0.264353	0.10294	.	.	ENSG00000188729	ENST00000445281;ENST00000339051	.	.	.	5.76	1.96	0.26148	.	0.333720	0.28301	N	0.015853	T	0.41143	0.1146	L	0.42245	1.32	0.32025	N	0.60033	B	0.17268	0.021	B	0.21151	0.033	T	0.40270	-0.9572	9	0.48119	T	0.1	-0.1756	7.5074	0.27553	0.1447:0.255:0.6003:0.0	.	34	P61366	OSTN_HUMAN	Q	34	.	ENSP00000342356:E34Q	E	+	1	0	OSTN	192413115	1.000000	0.71417	0.650000	0.29550	0.123000	0.20343	1.580000	0.36547	0.077000	0.16863	-0.172000	0.13284	GAG		0.348	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184		24	61	0	0	0	0	24	61				
ZFYVE28	57732	broad.mit.edu	37	4	2273119	2273119	+	Missense_Mutation	SNP	G	G	T	rs146945400		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:2273119G>T	ENST00000290974.2	-	12	2790	c.2451C>A	c.(2449-2451)gaC>gaA	p.D817E	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.D747E|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.D787E|ZFYVE28_ENST00000508471.1_Missense_Mutation_p.D122E	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	817					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CACAGGCCTCGTCTGGCACCC	0.662																																						uc003gex.1		NA																	0				skin(2)|ovary(1)	3						c.(2449-2451)GAC>GAA		zinc finger, FYVE domain containing 28							24.0	24.0	24.0					4																	2273119		2201	4296	6497	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2273119G>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2451C>A	4.37:g.2273119G>T	ENSP00000290974:p.Asp817Glu					ZFYVE28_uc011bvk.1_Missense_Mutation_p.D747E|ZFYVE28_uc011bvl.1_Missense_Mutation_p.D787E|ZFYVE28_uc003gew.1_Missense_Mutation_p.D703E	p.D817E	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			12	2770	-			817			FYVE-type.		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.2451C>A	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545484	0.65198	.	.	ENSG00000159733	ENST00000508471;ENST00000290974;ENST00000511071;ENST00000515312	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	4.68	-5.92	0.02261	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.85318	0.5669	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.76071	0.901;0.987	D	0.86279	0.1666	10	0.87932	D	0	.	16.4478	0.83947	0.7955:0.0:0.2045:0.0	.	787;817	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	E	122;817;787;747	ENSP00000427654:D122E;ENSP00000290974:D817E;ENSP00000425706:D787E;ENSP00000426299:D747E	ENSP00000290974:D817E	D	-	3	2	ZFYVE28	2242917	0.055000	0.20627	0.290000	0.24890	0.619000	0.37552	-0.431000	0.06965	-1.762000	0.01308	-1.203000	0.01651	GAC		0.662	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		6	16	1	0	1.5e-05	1.56e-05	6	16				
TADA2B	93624	broad.mit.edu	37	4	7056307	7056307	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:7056307C>G	ENST00000310074.7	+	2	978	c.789C>G	c.(787-789)taC>taG	p.Y263*	TADA2B_ENST00000515646.1_Nonsense_Mutation_p.Y171*|TADA2B_ENST00000512388.1_Nonsense_Mutation_p.Y188*	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	263					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GGCCGCTGTACCAGTTCATGT	0.527																																						uc003gjw.3		NA																	0					0						c.(787-789)TAC>TAG		transcriptional adaptor 2 (ADA2 homolog,							41.0	49.0	46.0					4																	7056307		2076	4202	6278	SO:0001587	stop_gained	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056307C>G	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.789C>G	4.37:g.7056307C>G	ENSP00000308022:p.Tyr263*					TADA2B_uc010idi.2_Nonsense_Mutation_p.Y188*	p.Y263*	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN			2	940	+			263					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Nonsense_Mutation	SNP	ENST00000310074.7	37	c.789C>G	CCDS47007.1	.	.	.	.	.	.	.	.	.	.	C	47	12.966141	0.99709	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646	.	.	.	4.96	4.12	0.48240	.	0.117408	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.4037	8.0266	0.30440	0.0:0.7567:0.0:0.2433	.	.	.	.	X	263;188;171	.	ENSP00000308022:Y263X	Y	+	3	2	TADA2B	7107208	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	0.889000	0.28282	1.098000	0.41479	0.561000	0.74099	TAC		0.527	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		15	56	0	0	0	0	15	56				
PHOX2B	8929	broad.mit.edu	37	4	41749528	41749528	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:41749528G>A	ENST00000226382.2	-	2	626	c.267C>T	c.(265-267)caC>caT	p.H89H	RP11-227F19.1_ENST00000508038.1_RNA|RP11-227F19.2_ENST00000510602.1_lincRNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	89					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TGAGGCCGCCGTGGTCCGTGA	0.577			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc003gwf.3		NA	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	Mis|F	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						c.(265-267)CAC>CAT		paired-like homeobox 2b							67.0	69.0	69.0					4																	41749528		2203	4300	6503	SO:0001819	synonymous_variant	8929	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41749528G>A	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.267C>T	4.37:g.41749528G>A							p.H89H	NM_003924	NP_003915	Q99453	PHX2B_HUMAN			2	627	-			89					Q6PJD9	Silent	SNP	ENST00000226382.2	37	c.267C>T	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	3.885	-0.025192	0.07589	.	.	ENSG00000109132	ENST00000510424	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	T	0.75273	0.3827	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72833	-0.4173	4	.	.	.	.	19.3659	0.94461	0.0:0.0:1.0:0.0	.	.	.	.	M	29	.	.	T	-	2	0	PHOX2B	41444285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.123000	0.71614	2.797000	0.96272	0.655000	0.94253	ACG		0.577	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			53	147	0	0	0	0	53	147				
TXK	7294	broad.mit.edu	37	4	48096216	48096216	+	Missense_Mutation	SNP	G	G	T	rs375757546		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:48096216G>T	ENST00000264316.4	-	8	672	c.587C>A	c.(586-588)aCg>aAg	p.T196K	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	196	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGCAGCCTCCGTACTTCTACA	0.373																																						uc003gxx.3		NA																	0					0						c.(586-588)ACG>AAG		TXK tyrosine kinase							95.0	88.0	90.0					4																	48096216		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48096216G>T	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.587C>A	4.37:g.48096216G>T	ENSP00000264316:p.Thr196Lys					TXK_uc003gxy.1_Missense_Mutation_p.T196K	p.T196K	NM_003328	NP_003319	P42681	TXK_HUMAN			8	673	-			196			SH2.		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.587C>A	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	G	0.438	-0.899936	0.02472	.	.	ENSG00000074966	ENST00000264316	T	0.73469	-0.75	5.23	-0.301	0.12800	SH2 motif (4);	0.854610	0.10075	N	0.719271	T	0.50718	0.1632	N	0.12422	0.21	0.09310	N	0.999999	B	0.27264	0.173	B	0.34093	0.175	T	0.40136	-0.9579	10	0.19590	T	0.45	.	1.1976	0.01878	0.3338:0.2079:0.3267:0.1315	.	196	P42681	TXK_HUMAN	K	196	ENSP00000264316:T196K	ENSP00000264316:T196K	T	-	2	0	TXK	47790973	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.000000	0.12993	0.039000	0.15632	0.650000	0.86243	ACG		0.373	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		20	63	1	0	1.02e-10	1.09e-10	20	63				
ANK2	287	broad.mit.edu	37	4	114264272	114264272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:114264272G>T	ENST00000357077.4	+	34	4275	c.4222G>T	c.(4222-4224)Gaa>Taa	p.E1408*	ANK2_ENST00000264366.6_Nonsense_Mutation_p.E1375*|ANK2_ENST00000394537.3_Nonsense_Mutation_p.E1408*|ANK2_ENST00000510275.2_Nonsense_Mutation_p.E60*|ANK2_ENST00000506722.1_Nonsense_Mutation_p.E1399*|ANK2_ENST00000509550.1_Nonsense_Mutation_p.E584*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1408	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCCTTCAAAGAAAATAGACT	0.338																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(4222-4224)GAA>TAA		ankyrin 2 isoform 1							134.0	131.0	132.0					4																	114264272		2203	4300	6503	SO:0001587	stop_gained	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114264272G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4222G>T	4.37:g.114264272G>T	ENSP00000349588:p.Glu1408*					ANK2_uc003ibd.3_Nonsense_Mutation_p.E1399*|ANK2_uc003ibf.3_Nonsense_Mutation_p.E1408*|ANK2_uc011cgc.1_Nonsense_Mutation_p.E584*|ANK2_uc003ibg.3_Nonsense_Mutation_p.E403*|ANK2_uc003ibh.3_Nonsense_Mutation_p.E82*|ANK2_uc011cgb.1_Nonsense_Mutation_p.E1423*	p.E1408*	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	34	4322	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1375					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	c.4222G>T	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	11.237581|11.237581	0.99535|0.99535	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275|ENST00000514960	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.56097|.	D|.	0.000031|.	.|T	.|0.76321	.|0.3971	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74951	.|-0.3489	.|3	0.87932|.	D|.	0|.	.|.	19.3976|19.3976	0.94612|0.94612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1321;1399;454;1423;1408;1408;1375;1399;584;60|420	.|.	ENSP00000264366:E1375X|.	E|R	+|+	1|2	0|0	ANK2|ANK2	114483721|114483721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.575000|2.575000	0.86900|0.86900	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.338	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		42	91	1	0	1.57e-19	1.71e-19	42	91				
ADAD1	132612	broad.mit.edu	37	4	123305081	123305081	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:123305081A>G	ENST00000296513.2	+	5	674	c.489A>G	c.(487-489)ctA>ctG	p.L163L	ADAD1_ENST00000388725.2_Silent_p.L145L|ADAD1_ENST00000388724.2_Silent_p.L163L|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	163	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATGAGCTTCTACAACTGGATG	0.358																																						uc003ieo.2		NA																	0					0						c.(487-489)CTA>CTG		adenosine deaminase domain containing 1							91.0	90.0	90.0					4																	123305081		2203	4300	6503	SO:0001819	synonymous_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123305081A>G	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.489A>G	4.37:g.123305081A>G						ADAD1_uc003iep.2_Silent_p.L163L|ADAD1_uc003ieq.2_Silent_p.L145L	p.L163L	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			5	721	+			163			DRBM.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Silent	SNP	ENST00000296513.2	37	c.489A>G	CCDS34058.1																																																																																				0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		28	84	0	0	0	0	28	84				
ZDHHC11	79844	broad.mit.edu	37	5	801279	801279	+	Splice_Site	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:801279C>T	ENST00000283441.8	-	12	1565	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Splice_Site_p.G394G	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	394						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTTGTTGCAGCCTGTTTGCAA	0.383																																						uc011cma.1		NA																	0				skin(1)|pancreas(1)	2						c.(1180-1182)GGG>GGA		zinc finger, DHHC-type containing 11							133.0	97.0	109.0					5																	801279		2202	4296	6498	SO:0001630	splice_region_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:801279C>T	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1182-1G>A	5.37:g.801279C>T						ZDHHC11_uc010itc.2_RNA|ZDHHC11_uc003jbj.2_RNA	p.G394G	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		12	1566	-			394					Q6UWR9	Silent	SNP	ENST00000283441.8	37	c.1182G>A	CCDS3857.1																																																																																				0.383	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786	Silent	33	174	0	0	0	0	33	174				
IRX2	153572	broad.mit.edu	37	5	2749083	2749083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:2749083C>T	ENST00000382611.6	-	3	987	c.739G>A	c.(739-741)Gac>Aac	p.D247N	IRX2_ENST00000302057.5_Missense_Mutation_p.D247N|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	247					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CACAGGGGGTCCCCGGCGCGG	0.706																																						uc003jda.2		NA																	0				skin(1)	1						c.(739-741)GAC>AAC		iroquois homeobox 2							23.0	24.0	23.0					5																	2749083		2198	4286	6484	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749083C>T	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.739G>A	5.37:g.2749083C>T	ENSP00000372056:p.Asp247Asn					IRX2_uc003jdb.2_Missense_Mutation_p.D247N	p.D247N	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	981	-			247					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.739G>A	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.642003	0.47153	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.66280	-0.15;-0.15;-0.2	5.0	5.0	0.66597	.	0.844017	0.10746	N	0.638932	T	0.59865	0.2225	L	0.57536	1.79	0.51482	D	0.999928	B	0.27229	0.172	B	0.22152	0.038	T	0.53920	-0.8370	10	0.15066	T	0.55	-27.6142	17.2961	0.87171	0.0:1.0:0.0:0.0	.	247	Q9BZI1	IRX2_HUMAN	N	247;247;154	ENSP00000372056:D247N;ENSP00000307006:D247N;ENSP00000426151:D154N	ENSP00000307006:D247N	D	-	1	0	IRX2	2802083	1.000000	0.71417	0.992000	0.48379	0.663000	0.39108	4.990000	0.63876	2.317000	0.78254	0.655000	0.94253	GAC		0.706	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			22	118	0	0	0	0	22	118				
FAM134B	54463	broad.mit.edu	37	5	16616784	16616784	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:16616784G>A	ENST00000306320.9	-	1	383	c.297C>T	c.(295-297)ttC>ttT	p.F99F	RP11-260E18.1_ENST00000499131.1_RNA|FAM134B_ENST00000509048.1_5'UTR|CTC-461F20.1_ENST00000504935.1_lincRNA	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	99					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TGGCAGCGACGAAGCCGAGCA	0.726																																						uc003jfs.2		NA																	0				ovary(2)|breast(1)	3						c.(295-297)TTC>TTT		hypothetical protein LOC54463 isoform 1							7.0	8.0	8.0					5																	16616784		1848	3931	5779	SO:0001819	synonymous_variant	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16616784G>A	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.297C>T	5.37:g.16616784G>A							p.F99F	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN			1	335	-			99			Helical; (Potential).		Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Silent	SNP	ENST00000306320.9	37	c.297C>T	CCDS43304.1																																																																																				0.726	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		7	31	0	0	0	0	7	31				
ADAMTS12	81792	broad.mit.edu	37	5	33576201	33576201	+	Silent	SNP	G	G	A	rs141717162		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:33576201G>A	ENST00000504830.1	-	19	4265	c.3930C>T	c.(3928-3930)aaC>aaT	p.N1310N	ADAMTS12_ENST00000352040.3_Silent_p.N1225N|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1310	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGCCGTGGCCGTTTGTGAGCT	0.468										HNSCC(64;0.19)																												uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3928-3930)AAC>AAT		ADAM metallopeptidase with thrombospondin type 1		G		0,4406		0,0,2203	118.0	118.0	118.0		3930	-9.0	0.0	5	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS12	NM_030955.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1310/1595	33576201	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576201G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3930C>T	5.37:g.33576201G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.N1225N	p.N1310N	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	4093	-			1310			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3930C>T	CCDS34140.1																																																																																				0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		77	396	0	0	0	0	77	396				
RAPGEF6	51735	broad.mit.edu	37	5	130840396	130840396	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:130840396C>T	ENST00000509018.1	-	11	1382	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E108K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E393K|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E393K|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E393K|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E393K|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E443K|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E393K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	393					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATTTCTCCCTCTTCCTCAACT	0.413																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1177-1179)GAG>AAG		PDZ domain-containing guanine nucleotide							187.0	171.0	177.0					5																	130840396		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130840396C>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1177G>A	5.37:g.130840396C>T	ENSP00000421684:p.Glu393Lys					RAPGEF6_uc003kvp.1_Missense_Mutation_p.E443K|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E393K|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E393K|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E393K|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E110K|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E393K|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E393K	p.E393K	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	11	1383	-			393			cNMP.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1177G>A	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309509	0.60414	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.43	4.43	0.53597	Ras guanine nucleotide exchange factor, domain (1);Cyclic nucleotide-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.24198	0.0586	L	0.31294	0.92	0.80722	D	1	B;B;B;B;B;B;B	0.27679	0.021;0.021;0.007;0.009;0.185;0.016;0.01	B;B;B;B;B;B;B	0.31191	0.013;0.019;0.029;0.022;0.125;0.029;0.013	T	0.08638	-1.0712	10	0.59425	D	0.04	.	11.0157	0.47687	0.0:0.9131:0.0:0.0869	.	393;393;393;108;443;393;393	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	K	393;393;393;393;393;108;393;393;443	ENSP00000421684:E393K;ENSP00000309298:E393K;ENSP00000426081:E393K;ENSP00000296859:E393K;ENSP00000426910:E108K;ENSP00000311419:E393K;ENSP00000425389:E393K;ENSP00000426948:E443K	ENSP00000426948:E443K	E	-	1	0	RAPGEF6;FNIP1	130868295	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.077000	0.57598	2.173000	0.68751	0.313000	0.20887	GAG		0.413	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		35	87	0	0	0	0	35	87				
GRXCR2	643226	broad.mit.edu	37	5	145252398	145252398	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:145252398G>A	ENST00000377976.1	-	1	133	c.134C>T	c.(133-135)cCa>cTa	p.P45L		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	45						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TTCCTCCTTTGGTGACTCTAA	0.498																																						uc003lns.1		NA																	0					0						c.(133-135)CCA>CTA		glutaredoxin, cysteine rich 2							140.0	136.0	137.0					5																	145252398		2203	4300	6503	SO:0001583	missense	643226							g.chr5:145252398G>A		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.134C>T	5.37:g.145252398G>A	ENSP00000367214:p.Pro45Leu						p.P45L	NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN			1	134	-			45						Missense_Mutation	SNP	ENST00000377976.1	37	c.134C>T	CCDS34263.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780956	0.31502	.	.	ENSG00000204928	ENST00000377976	T	0.57107	0.42	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64349	0.2590	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53279	-0.8461	10	0.10377	T	0.69	-16.5188	19.0403	0.92995	0.0:0.0:1.0:0.0	.	45	A6NFK2	GRCR2_HUMAN	L	45	ENSP00000367214:P45L	ENSP00000367214:P45L	P	-	2	0	GRXCR2	145232591	1.000000	0.71417	0.993000	0.49108	0.397000	0.30659	8.314000	0.89980	2.854000	0.98071	0.655000	0.94253	CCA		0.498	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2			74	108	0	0	0	0	74	108				
HIST1H1C	3006	broad.mit.edu	37	6	26056369	26056369	+	Silent	SNP	C	C	G	rs555588749		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:26056369C>G	ENST00000343677.2	-	1	330	c.288G>C	c.(286-288)acG>acC	p.T96T		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	96	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGGTGCCTTTCGTTTGCACCA	0.532																																						uc003nfw.2		NA																	0				ovary(3)|skin(2)	5						c.(286-288)ACG>ACC		histone cluster 1, H1c							105.0	109.0	108.0					6																	26056369		2203	4300	6503	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056369C>G	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.288G>C	6.37:g.26056369C>G							p.T96T	NM_005319	NP_005310	P16403	H12_HUMAN			1	331	-			96			H15.		A8K4I2	Silent	SNP	ENST00000343677.2	37	c.288G>C	CCDS4577.1																																																																																				0.532	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		50	241	0	0	0	0	50	241				
PGBD1	84547	broad.mit.edu	37	6	28269361	28269361	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:28269361A>T	ENST00000405948.2	+	7	2150	c.1730A>T	c.(1729-1731)cAg>cTg	p.Q577L	PGBD1_ENST00000259883.3_Missense_Mutation_p.Q577L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	577						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACAACCACACAGGGTTATCTG	0.388																																						uc003nky.2		NA																	0				ovary(4)	4						c.(1729-1731)CAG>CTG		piggyBac transposable element derived 1							83.0	83.0	83.0					6																	28269361		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269361A>T	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1730A>T	6.37:g.28269361A>T	ENSP00000385213:p.Gln577Leu					PGBD1_uc003nkz.2_Missense_Mutation_p.Q577L	p.Q577L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			7	2100	+			577					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1730A>T	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.375744	0.24857	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17054	2.3;2.3	4.66	3.49	0.39957	.	0.423877	0.19691	N	0.108268	T	0.02533	0.0077	N	0.15975	0.35	0.24288	N	0.995179	B	0.15719	0.014	B	0.25759	0.063	T	0.46582	-0.9181	10	0.11485	T	0.65	-1.6853	7.1514	0.25612	0.8988:0.0:0.1012:0.0	.	577	Q96JS3	PGBD1_HUMAN	L	577	ENSP00000385213:Q577L;ENSP00000259883:Q577L	ENSP00000259883:Q577L	Q	+	2	0	PGBD1	28377340	0.954000	0.32549	0.992000	0.48379	0.996000	0.88848	1.356000	0.34079	0.918000	0.36919	0.533000	0.62120	CAG		0.388	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			87	136	0	0	0	0	87	136				
TULP1	7287	broad.mit.edu	37	6	35466208	35466208	+	Missense_Mutation	SNP	C	C	T	rs201496818		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:35466208C>T	ENST00000229771.6	-	15	1604	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	TEAD3_ENST00000402886.3_5'Flank|TULP1_ENST00000322263.4_Missense_Mutation_p.V456M|TEAD3_ENST00000338863.7_5'Flank	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	509					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCTCCGCCACGCGGCCGAAC	0.667																																					GBM(55;1027 1091 11115 23439)	uc003okv.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1525-1527)GTG>ATG		tubby like protein 1							48.0	46.0	47.0					6																	35466208		2203	4300	6503	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35466208C>T	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1525G>A	6.37:g.35466208C>T	ENSP00000229771:p.Val509Met					TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Missense_Mutation_p.V456M	p.V509M	NM_003322	NP_003313	O00294	TULP1_HUMAN			15	1537	-			509					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.1525G>A	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702631	0.88924	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.97731	-4.51;-4.51	5.1	4.23	0.50019	Tubby, C-terminal (4);	0.063186	0.64402	D	0.000005	D	0.98871	0.9618	H	0.94620	3.56	0.49687	D	0.999819	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.99609	1.0980	10	0.87932	D	0	-15.2282	13.4542	0.61189	0.0:0.924:0.0:0.076	.	456;509	O00294-2;O00294	.;TULP1_HUMAN	M	509;456	ENSP00000229771:V509M;ENSP00000319414:V456M	ENSP00000229771:V509M	V	-	1	0	TULP1	35574186	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.765000	0.62271	1.165000	0.42670	0.555000	0.69702	GTG		0.667	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			10	40	0	0	0	0	10	40				
AARS2	57505	broad.mit.edu	37	6	44275034	44275034	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:44275034A>T	ENST00000244571.4	-	6	994	c.992T>A	c.(991-993)cTc>cAc	p.L331H	RP11-444E17.6_ENST00000505802.1_3'UTR|TMEM151B_ENST00000438774.2_3'UTR	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(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)			GCAGACACTGAGTGTGCGGAT	0.642																																						uc010jza.1		NA																	0				ovary(1)	1						c.(991-993)CTC>CAC		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						64.0	60.0	61.0					6																	44275034		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44275034A>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.992T>A	6.37:g.44275034A>T	ENSP00000244571:p.Leu331His					SPATS1_uc003oxg.2_RNA|TMEM151B_uc003oxf.2_3'UTR	p.L331H	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	995	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		331						Missense_Mutation	SNP	ENST00000244571.4	37	c.992T>A	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304764	0.81247	.	.	ENSG00000124608	ENST00000244571	T	0.75154	-0.91	4.14	4.14	0.48551	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.073236	0.53938	D	0.000046	D	0.87830	0.6276	H	0.95679	3.705	0.58432	D	0.999992	D	0.89917	1.0	D	0.85130	0.997	D	0.91255	0.5032	10	0.87932	D	0	-15.0065	13.3218	0.60436	1.0:0.0:0.0:0.0	.	331	Q5JTZ9	SYAM_HUMAN	H	331	ENSP00000244571:L331H	ENSP00000244571:L331H	L	-	2	0	AARS2	44383012	1.000000	0.71417	0.999000	0.59377	0.863000	0.49368	8.995000	0.93534	1.732000	0.51606	0.260000	0.18958	CTC		0.642	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		11	23	0	0	0	0	11	23				
TINAG	27283	broad.mit.edu	37	6	54254654	54254654	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:54254654A>G	ENST00000259782.4	+	11	1458	c.1362A>G	c.(1360-1362)gtA>gtG	p.V454V		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	454					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTCGAGGAGTAAATGAGTCCG	0.403																																						uc003pcj.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1360-1362)GTA>GTG		tubulointerstitial nephritis antigen							143.0	140.0	141.0					6																	54254654		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54254654A>G	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1362A>G	6.37:g.54254654A>G						TINAG_uc010jzt.2_RNA	p.V454V	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		11	1508	+	Lung NSC(77;0.0518)		454					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.1362A>G	CCDS4955.1																																																																																				0.403	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		7	274	0	0	0	0	7	274				
DST	667	broad.mit.edu	37	6	56394429	56394429	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:56394429C>T	ENST00000244364.6	-	47	9750	c.9543G>A	c.(9541-9543)gaG>gaA	p.E3181E	DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Silent_p.E5269E|DST_ENST00000370754.5_Silent_p.E5773E|DST_ENST00000370769.4_Silent_p.E5595E|DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Silent_p.E3507E	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	5593					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTCTTGAATCTCAATGTACC	0.433																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(11053-11055)GAG>GAA		dystonin isoform 2							189.0	177.0	180.0					6																	56394429		1911	4129	6040	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56394429C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.9543G>A	6.37:g.56394429C>T						DST_uc003pcz.3_Silent_p.E3507E|DST_uc011dxj.1_Silent_p.E3536E|DST_uc011dxk.1_Silent_p.E3547E|DST_uc003pcy.3_Silent_p.E3181E	p.E3685E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		60	11083	-	Lung NSC(77;0.103)		5593			Spectrin 9.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000244364.6	37	c.11055G>A	CCDS47443.1																																																																																				0.433	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4	NM_001723		74	215	0	0	0	0	74	215				
DDX43	55510	broad.mit.edu	37	6	74116174	74116174	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:74116174C>T	ENST00000370336.4	+	7	1053	c.895C>T	c.(895-897)Cct>Tct	p.P299S	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	299	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTATTTAATGCCTGGATTTAT	0.378																																						uc003pgw.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(895-897)CCT>TCT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							137.0	123.0	127.0					6																	74116174		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74116174C>T		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.895C>T	6.37:g.74116174C>T	ENSP00000359361:p.Pro299Ser					DDX43_uc011dyn.1_RNA	p.P299S	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN			7	1239	+			299			Helicase ATP-binding.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.895C>T	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394496	0.83011	.	.	ENSG00000080007	ENST00000370336	T	0.20200	2.09	5.08	5.08	0.68730	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64512	-0.6390	10	0.87932	D	0	-0.6289	17.5917	0.87998	0.0:1.0:0.0:0.0	.	299	Q9NXZ2	DDX43_HUMAN	S	299	ENSP00000359361:P299S	ENSP00000359361:P299S	P	+	1	0	DDX43	74172895	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.789000	0.75110	2.525000	0.85131	0.563000	0.77884	CCT		0.378	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		33	87	0	0	0	0	33	87				
LAMA2	3908	broad.mit.edu	37	6	129674411	129674411	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:129674411C>T	ENST00000421865.2	+	32	4675	c.4626C>T	c.(4624-4626)gtC>gtT	p.V1542V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1542	Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGACCCTGTCACAGGATTCT	0.597																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(4624-4626)GTC>GTT		laminin alpha 2 subunit isoform a precursor							86.0	76.0	80.0					6																	129674411		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129674411C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4626C>T	6.37:g.129674411C>T						LAMA2_uc003qbo.2_Silent_p.V1542V	p.V1542V	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	32	4731	+			1542			Laminin EGF-like 17.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.4626C>T	CCDS5138.1																																																																																				0.597	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			60	73	0	0	0	0	60	73				
CRHR2	1395	broad.mit.edu	37	7	30704714	30704714	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr7:30704714A>G	ENST00000471646.1	-	5	932	c.515T>C	c.(514-516)gTt>gCt	p.V172A	CRHR2_ENST00000341843.4_Missense_Mutation_p.V158A|CRHR2_ENST00000506074.2_Missense_Mutation_p.V172A|CRHR2_ENST00000348438.4_Missense_Mutation_p.V199A	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	172					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCATGGTCAACGAGCTGCAG	0.572																																						uc003tbn.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(514-516)GTT>GCT		corticotropin releasing hormone receptor 2							106.0	84.0	92.0					7																	30704714		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30704714A>G		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.515T>C	7.37:g.30704714A>G	ENSP00000418722:p.Val172Ala					CRHR2_uc010kvw.1_Missense_Mutation_p.V172A|CRHR2_uc010kvx.1_Missense_Mutation_p.V171A|CRHR2_uc010kvy.1_Missense_Mutation_p.V8A|CRHR2_uc003tbo.2_Missense_Mutation_p.V158A|CRHR2_uc003tbp.2_Missense_Mutation_p.V199A	p.V172A	NM_001883	NP_001874	Q13324	CRFR2_HUMAN			5	759	-			172			Extracellular (Potential).		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.515T>C	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592149	0.46214	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.28	4.28	0.50868	GPCR, family 2-like (1);	0.152389	0.56097	D	0.000022	T	0.39306	0.1073	L	0.33339	1.005	0.25427	N	0.988213	B;B;B;B;B	0.19073	0.001;0.033;0.007;0.007;0.019	B;B;B;B;B	0.30716	0.01;0.101;0.06;0.06;0.119	T	0.31336	-0.9947	10	0.36615	T	0.2	.	12.0278	0.53382	1.0:0.0:0.0:0.0	.	171;172;199;158;172	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	A	172;199;158;172	ENSP00000418722:V172A;ENSP00000340943:V199A;ENSP00000344304:V158A;ENSP00000426498:V172A	ENSP00000344304:V158A	V	-	2	0	CRHR2	30671239	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	4.938000	0.63519	2.146000	0.66826	0.533000	0.62120	GTT		0.572	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			4	99	0	0	0	0	4	99				
GNAT3	346562	broad.mit.edu	37	7	80091853	80091853	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr7:80091853C>A	ENST00000398291.3	-	6	778	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	229					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						ATGTCATAGGCACTAAGTGCA	0.398																																						uc011kgu.1		NA																	0				ovary(1)	1						c.(685-687)GCC>TCC		guanine nucleotide binding protein, alpha							144.0	136.0	138.0					7																	80091853		1990	4207	6197	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80091853C>A		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.685G>T	7.37:g.80091853C>A	ENSP00000381339:p.Ala229Ser					CD36_uc003uhc.2_Intron	p.A229S	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			6	685	-			229					A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.685G>T	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833961	0.91036	.	.	ENSG00000214415	ENST00000398291	T	0.81330	-1.48	5.2	5.2	0.72013	.	0.000000	0.85682	U	0.000000	D	0.85457	0.5701	L	0.39085	1.19	0.80722	D	1	D	0.60160	0.987	D	0.77004	0.989	D	0.83861	0.0268	9	.	.	.	.	19.1084	0.93307	0.0:1.0:0.0:0.0	.	229	A8MTJ3	GNAT3_HUMAN	S	229	ENSP00000381339:A229S	.	A	-	1	0	GNAT3	79929789	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.579000	0.87056	0.655000	0.94253	GCC		0.398	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		8	112	1	0	2.18e-05	2.26e-05	8	112				
PIP	5304	broad.mit.edu	37	7	142836666	142836666	+	Silent	SNP	T	T	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr7:142836666T>G	ENST00000291009.3	+	4	412	c.372T>G	c.(370-372)ccT>ccG	p.P124P		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	124					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GCATCTGCCCTGATGATGCTG	0.468																																						uc003wcf.1		NA																	0				ovary(1)	1						c.(370-372)CCT>CCG		prolactin-induced protein precursor							174.0	167.0	170.0					7																	142836666		2203	4299	6502	SO:0001819	synonymous_variant	5304					extracellular region	actin binding	g.chr7:142836666T>G		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.372T>G	7.37:g.142836666T>G							p.P124P	NM_002652	NP_002643	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	4	408	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	124					A0A963|A0A9C3|A0A9F3|A4D2I1	Silent	SNP	ENST00000291009.3	37	c.372T>G	CCDS34768.1																																																																																				0.468	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		104	150	0	0	0	0	104	150				
HGSNAT	138050	broad.mit.edu	37	8	43046738	43046738	+	Splice_Site	SNP	C	C	A	rs200750044	byFrequency	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:43046738C>A	ENST00000458501.2	+	12	1334	c.1334C>A	c.(1333-1335)aCt>aAt	p.T445N	HGSNAT_ENST00000297798.7_Splice_Site_p.T149N|HGSNAT_ENST00000521576.1_Splice_Site_p.T134N|HGSNAT_ENST00000379644.4_Splice_Site_p.T417N			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	445					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGGTGCCCTACGTAAGCGAAC	0.597																																						uc003xpx.3		NA																	0					0						c.(1249-1251)ACT>AAT		heparan-alpha-glucosaminide N-acetyltransferase							74.0	77.0	76.0					8																	43046738		2017	4188	6205	SO:0001630	splice_region_variant	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43046738C>A		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1334+1C>A	8.37:g.43046738C>A							p.T417N	NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		12	1298	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	445			Lumenal, vesicle (Potential).		B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37	c.1250C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.150642|2.150642	0.37923|0.37923	.|.	.|.	ENSG00000165102|ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798|ENST00000524016	D;D;D;D|.	0.87412|.	-2.25;-2.25;-2.25;-2.25|.	5.24|5.24	2.44|2.44	0.29823|0.29823	.|.	0.305751|.	0.30392|.	N|.	0.009731|.	T|.	0.65123|.	0.2661|.	M|M	0.82323|0.82323	2.585|2.585	0.44079|0.44079	D|D	0.996836|0.996836	P|.	0.36733|.	0.567|.	B|.	0.28638|.	0.092|.	T|.	0.60551|.	-0.7241|.	10|.	0.24483|.	T|.	0.36|.	-2.5243|-2.5243	3.9889|3.9889	0.09529|0.09529	0.1662:0.574:0.0:0.2598|0.1662:0.574:0.0:0.2598	.|.	445|.	Q68CP4|.	HGNAT_HUMAN|.	N|X	445;417;134;149|118	ENSP00000389524:T445N;ENSP00000368965:T417N;ENSP00000429029:T134N;ENSP00000297798:T149N|.	ENSP00000297798:T149N|.	T|Y	+|+	2|3	0|2	HGSNAT|HGSNAT	43165895|43165895	0.132000|0.132000	0.22450|0.22450	0.973000|0.973000	0.42090|0.42090	0.560000|0.560000	0.35617|0.35617	0.150000|0.150000	0.16263|0.16263	0.217000|0.217000	0.20800|0.20800	-0.142000|-0.142000	0.14014|0.14014	ACT|TAC		0.597	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038	Missense_Mutation	38	174	1	0	5.78e-17	6.29e-17	38	174				
MCM4	4173	broad.mit.edu	37	8	48874211	48874211	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:48874211T>C	ENST00000262105.2	+	2	415	c.206T>C	c.(205-207)tTt>tCt	p.F69S	PRKDC_ENST00000314191.2_5'Flank|PRKDC_ENST00000338368.3_5'Flank|PRKDC_ENST00000523565.1_5'Flank|MCM4_ENST00000523944.1_Missense_Mutation_p.F69S	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	69					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GACGTGCTGTTTTCCAGCCCT	0.557																																						uc003xqk.1		NA																	0				ovary(2)|skin(2)	4						c.(205-207)TTT>TCT		minichromosome maintenance complex component 4							130.0	128.0	129.0					8																	48874211		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48874211T>C		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.206T>C	8.37:g.48874211T>C	ENSP00000262105:p.Phe69Ser					PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.F69S|MCM4_uc011ldi.1_Missense_Mutation_p.F69S|MCM4_uc010lxw.1_Intron	p.F69S	NM_182746	NP_877423	P33991	MCM4_HUMAN			3	301	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	69					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.206T>C	CCDS6143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.069|9.069	0.996318|0.996318	0.19043|0.19043	.|.	.|.	ENSG00000104738|ENSG00000104738	ENST00000429229|ENST00000518221;ENST00000523944;ENST00000262105;ENST00000396826;ENST00000519170	.|T;T	.|0.02525	.|4.26;4.26	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.154856|0.154856	0.64402|0.64402	D|D	0.000015|0.000015	T|T	0.04363|0.04363	0.0120|0.0120	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|B;B	.|0.17465	.|0.017;0.022	.|B;B	.|0.11329	.|0.004;0.006	T|T	0.45891|0.45891	-0.9230|-0.9230	7|10	0.13853|0.20519	T|T	0.58|0.43	-11.4929|-11.4929	15.7018|15.7018	0.77547|0.77547	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|69;69	.|B3KMX0;P33991	.|.;MCM4_HUMAN	L|S	42|69;69;69;69;19	.|ENSP00000430194:F69S;ENSP00000262105:F69S	ENSP00000400689:F42L|ENSP00000262105:F69S	F|F	+|+	1|2	0|0	MCM4|MCM4	49036764|49036764	1.000000|1.000000	0.71417|0.71417	0.524000|0.524000	0.27887|0.27887	0.107000|0.107000	0.19398|0.19398	6.490000|6.490000	0.73645|0.73645	2.114000|2.114000	0.64651|0.64651	0.459000|0.459000	0.35465|0.35465	TTT|TTT		0.557	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		18	174	0	0	0	0	18	174				
RP1	6101	broad.mit.edu	37	8	55539813	55539813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:55539813C>A	ENST00000220676.1	+	4	3519	c.3371C>A	c.(3370-3372)tCa>tAa	p.S1124*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1124					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATATGTAATTCATCCACTAAT	0.418																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(3370-3372)TCA>TAA		retinitis pigmentosa RP1 protein							76.0	68.0	70.0					8																	55539813		2203	4299	6502	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539813C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3371C>A	8.37:g.55539813C>A	ENSP00000220676:p.Ser1124*					RP1_uc011ldy.1_Intron	p.S1124*	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3519	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1124						Nonsense_Mutation	SNP	ENST00000220676.1	37	c.3371C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	40	8.496724	0.98836	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.7	4.82	0.62117	.	0.140242	0.33161	N	0.005206	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5245	0.67878	0.0:0.9296:0.0:0.0704	.	.	.	.	X	1124	.	ENSP00000220676:S1124X	S	+	2	0	RP1	55702366	1.000000	0.71417	0.455000	0.27031	0.494000	0.33585	3.357000	0.52277	1.403000	0.46800	0.563000	0.77884	TCA		0.418	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		39	92	1	0	9.89e-21	1.09e-20	39	92				
VPS13B	157680	broad.mit.edu	37	8	100533240	100533240	+	Splice_Site	SNP	T	T	A	rs386834091		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:100533240T>A	ENST00000358544.2	+	30	4931		c.e30+2		VPS13B_ENST00000395996.1_Splice_Site|VPS13B_ENST00000357162.2_Splice_Site	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATTTACCAGTAAGTTTATTT	0.393																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	GRCh37	CS090663	VPS13B	S		c.e30+2		vacuolar protein sorting 13B isoform 5							101.0	95.0	97.0					8																	100533240		2203	4300	6503	SO:0001630	splice_region_variant	157680				protein transport			g.chr8:100533240T>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4820+2T>A	8.37:g.100533240T>A						VPS13B_uc003yiw.2_Splice_Site_p.Q1582_splice	p.Q1607_splice	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		30	4931	+	Breast(36;3.73e-07)							C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Splice_Site	SNP	ENST00000358544.2	37	c.4820_splice	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609735	0.66558	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000521559	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8728	0.79136	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13B	100602416	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.270000	0.78493	2.128000	0.65567	0.455000	0.32223	.		0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	Intron	70	100	0	0	0	0	70	100				
MED30	90390	broad.mit.edu	37	8	118552148	118552148	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:118552148G>A	ENST00000297347.3	+	4	632	c.468G>A	c.(466-468)ctG>ctA	p.L156L	MED30_ENST00000522839.1_Silent_p.L121L	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	156					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			ATCAACAGCTGAAACAAATTA	0.303																																					Melanoma(81;817 1341 9674 26244 29255)	uc003yoj.2		NA																	0					0						c.(466-468)CTG>CTA		TRAP/Mediator complex component TRAP25							68.0	66.0	67.0					8																	118552148		2202	4296	6498	SO:0001819	synonymous_variant	90390				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr8:118552148G>A	AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"""thyroid hormone receptor associated protein 6"""	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.468G>A	8.37:g.118552148G>A						MED30_uc011lib.1_Silent_p.L121L	p.L156L	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	STAD - Stomach adenocarcinoma(47;0.0266)		4	619	+	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		156			Potential.		C6GKU9	Silent	SNP	ENST00000297347.3	37	c.468G>A	CCDS6323.1																																																																																				0.303	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651		18	40	0	0	0	0	18	40				
RUSC2	9853	broad.mit.edu	37	9	35555657	35555657	+	Missense_Mutation	SNP	G	G	A	rs140042742		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:35555657G>A	ENST00000455600.1	+	3	3184	c.2615G>A	c.(2614-2616)cGg>cAg	p.R872Q		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	872						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCCTGGCCCGGGGAGGTGGT	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17798	0.0		0.0	False		,,,				2504	0.0					uc003zww.2		NA																	0				ovary(1)	1						c.(2614-2616)CGG>CAG		RUN and SH3 domain containing 2		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	33.0	35.0	34.0		2615,2615	4.1	1.0	9	dbSNP_134	34	7,8591		0,7,4292	yes	missense,missense	RUSC2	NM_001135999.1,NM_014806.2	43,43	0,7,6495	AA,AG,GG		0.0814,0.0,0.0538	possibly-damaging,possibly-damaging	872/1517,872/1517	35555657	7,12997	2203	4299	6502	SO:0001583	missense	9853					cytosol		g.chr9:35555657G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2615G>A	9.37:g.35555657G>A	ENSP00000393922:p.Arg872Gln					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R872Q	p.R872Q	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	2870	+			872					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2615G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891296	0.52014	0.0	8.14E-4	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.24538	1.85;1.85	4.14	4.14	0.48551	.	0.270105	0.37136	N	0.002225	T	0.15565	0.0375	L	0.27053	0.805	0.34518	D	0.70786	P	0.48640	0.913	B	0.36922	0.236	T	0.22243	-1.0222	10	0.32370	T	0.25	-15.7475	12.0605	0.53561	0.0:0.0:1.0:0.0	.	872	Q8N2Y8	RUSC2_HUMAN	Q	872	ENSP00000355177:R872Q;ENSP00000393922:R872Q	ENSP00000355177:R872Q	R	+	2	0	RUSC2	35545657	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	3.034000	0.49751	2.296000	0.77279	0.650000	0.86243	CGG		0.632	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		33	58	0	0	0	0	33	58				
GDA	9615	broad.mit.edu	37	9	74863197	74863197	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:74863197G>A	ENST00000358399.3	+	14	1397	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q	GDA_ENST00000376989.3_Missense_Mutation_p.R374Q|GDA_ENST00000238018.4_Missense_Mutation_p.R435Q|GDA_ENST00000376986.1_Missense_Mutation_p.R357Q|GDA_ENST00000545168.1_Missense_Mutation_p.R361Q	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	435					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGAGATGATCGAAATATTGAA	0.403																																						uc004aiq.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1303-1305)CGA>CAA		guanine deaminase							112.0	119.0	117.0					9																	74863197		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74863197G>A	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.1304G>A	9.37:g.74863197G>A	ENSP00000351170:p.Arg435Gln					GDA_uc011lse.1_Missense_Mutation_p.R361Q|GDA_uc011lsf.1_Missense_Mutation_p.R361Q|GDA_uc004air.2_Missense_Mutation_p.R435Q|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.R357Q	p.R435Q	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	14	1487	+		Myeloproliferative disorder(762;0.0122)	435					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.1304G>A	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763025	0.89932	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000436438	.	.	.	5.67	5.67	0.87782	.	0.058866	0.64402	D	0.000002	T	0.80048	0.4552	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;P;P	0.70487	0.969;0.615;0.769	T	0.82118	-0.0615	9	0.72032	D	0.01	-7.9726	16.6867	0.85310	0.0:0.0:1.0:0.0	.	357;435;435	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	Q	361;435;374;357;435;143	.	ENSP00000238018:R435Q	R	+	2	0	GDA	74053017	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.634000	0.83273	2.680000	0.91292	0.563000	0.77884	CGA		0.403	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			52	124	0	0	0	0	52	124				
SETX	23064	broad.mit.edu	37	9	135153533	135153533	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:135153533C>G	ENST00000224140.5	-	21	6948	c.6766G>C	c.(6766-6768)Gtt>Ctt	p.V2256L	SETX_ENST00000372169.2_Missense_Mutation_p.V2256L|SETX_ENST00000393220.1_Missense_Mutation_p.V2256L|SETX_ENST00000477049.1_5'Flank	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2256					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTACTGAACAGTGAGCTGT	0.428																																						uc004cbk.2		NA																	0				ovary(2)|skin(1)	3						c.(6766-6768)GTT>CTT		senataxin							178.0	161.0	167.0					9																	135153533		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135153533C>G	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6766G>C	9.37:g.135153533C>G	ENSP00000224140:p.Val2256Leu					SETX_uc004cbj.2_Missense_Mutation_p.V1875L|SETX_uc010mzt.2_Missense_Mutation_p.V1875L	p.V2256L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	21	6949	-		Myeloproliferative disorder(178;0.204)	2256					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6766G>C	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	9.601	1.128641	0.21041	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.77	-5.8	0.02347	.	0.768582	0.11761	N	0.532110	T	0.75932	0.3917	L	0.59912	1.85	0.09310	N	1	B;B;B	0.29612	0.005;0.08;0.251	B;B;B	0.32677	0.026;0.126;0.15	T	0.66002	-0.6031	10	0.59425	D	0.04	.	8.3864	0.32503	0.1011:0.3524:0.0:0.5466	.	2256;2256;2256	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	2256;498;2256;2256	ENSP00000224140:V2256L;ENSP00000409143:V498L;ENSP00000361242:V2256L;ENSP00000376913:V2256L	ENSP00000224140:V2256L	V	-	1	0	SETX	134143354	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-0.969000	0.03813	-1.185000	0.02716	-0.897000	0.02905	GTT		0.428	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		58	254	0	0	0	0	58	254				
ARRDC1-AS1	85026	broad.mit.edu	37	9	140510521	140510521	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:140510521A>G	ENST00000371417.3	-	3	671	c.131T>C	c.(130-132)aTa>aCa	p.I44T	EHMT1_ENST00000334856.6_5'Flank|C9orf37_ENST00000496793.1_5'UTR|EHMT1_ENST00000462484.1_5'Flank|EHMT1_ENST00000460843.1_5'Flank	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		44										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		TACCTTATCTATAAAATGCAC	0.527																																						uc004cnz.2		NA																	0				breast(1)	1						c.(130-132)ATA>ACA		chromosome 9 open reading frame 37							65.0	65.0	65.0					9																	140510521		2195	4299	6494	SO:0001583	missense	85026							g.chr9:140510521A>G																												ENST00000371417.3:c.131T>C	9.37:g.140510521A>G	ENSP00000360471:p.Ile44Thr					EHMT1_uc004coa.2_5'Flank|EHMT1_uc004cob.1_5'Flank|EHMT1_uc011mfc.1_5'Flank	p.I44T	NM_032937	NP_116326	Q9H2J1	CI037_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	3	715	-	all_cancers(76;0.106)		44					Q17RM5|Q5T368	Missense_Mutation	SNP	ENST00000371417.3	37	c.131T>C	CCDS35189.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867998	0.32977	.	.	ENSG00000203993	ENST00000371417	T	0.13420	2.59	1.77	-2.55	0.06288	.	.	.	.	.	T	0.07413	0.0187	N	0.24115	0.695	0.09310	N	1	B	0.16603	0.018	B	0.14023	0.01	T	0.34900	-0.9810	9	0.54805	T	0.06	.	2.9408	0.05829	0.3803:0.2601:0.3596:0.0	.	44	Q9H2J1	CI037_HUMAN	T	44	ENSP00000360471:I44T	ENSP00000360471:I44T	I	-	2	0	C9orf37	139630342	0.001000	0.12720	0.006000	0.13384	0.744000	0.42396	-0.450000	0.06803	-0.648000	0.05437	0.321000	0.21382	ATA		0.527	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055328.1			11	29	0	0	0	0	11	29				
PDZD11	51248	broad.mit.edu	37	X	69507978	69507978	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chrX:69507978A>C	ENST00000239666.4	-	4	349	c.217T>G	c.(217-219)Ttc>Gtc	p.F73V	PDZD11_ENST00000473667.1_5'UTR|KIF4A_ENST00000374388.3_5'Flank|PDZD11_ENST00000374454.1_Missense_Mutation_p.F73V|KIF4A_ENST00000374403.3_5'Flank	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	73	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	protein C-terminus binding (GO:0008022)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						TTGGAGATGAAGATGCCTAGC	0.463																																						uc004dyd.1		NA																	0					0						c.(217-219)TTC>GTC		PDZ domain containing 11							47.0	41.0	43.0					X																	69507978		2203	4300	6503	SO:0001583	missense	51248					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding	g.chrX:69507978A>C	AF151061	CCDS14400.1	Xq13.1	2008-02-05		2006-01-24	ENSG00000120509	ENSG00000120509			28034	protein-coding gene	gene with protein product		300632		PDZK11		11042152, 12975309	Standard	NM_016484		Approved		uc004dyd.1	Q5EBL8	OTTHUMG00000021771	ENST00000239666.4:c.217T>G	X.37:g.69507978A>C	ENSP00000239666:p.Phe73Val					KIF4A_uc004dyg.2_5'Flank|KIF4A_uc010nkw.2_5'Flank|PDZD11_uc004dye.1_Missense_Mutation_p.F105V|KIF4A_uc004dyf.1_5'Flank	p.F73V	NM_016484	NP_057568	Q5EBL8	PDZ11_HUMAN			4	319	-			73			PDZ.		D3DVU3|Q6UWE1|Q9P0Q1	Missense_Mutation	SNP	ENST00000239666.4	37	c.217T>G	CCDS14400.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257790	0.59321	.	.	ENSG00000120509	ENST00000239666;ENST00000374454	T;T	0.26957	1.7;1.7	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.044094	0.85682	D	0.000000	T	0.33469	0.0864	N	0.13140	0.3	0.58432	D	0.999996	D;P	0.67145	0.996;0.643	D;B	0.75484	0.986;0.247	T	0.31223	-0.9951	10	0.87932	D	0	.	13.4048	0.60906	1.0:0.0:0.0:0.0	.	104;73	Q5EBL8-2;Q5EBL8	.;PDZ11_HUMAN	V	73	ENSP00000239666:F73V;ENSP00000363578:F73V	ENSP00000239666:F73V	F	-	1	0	PDZD11	69424703	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.238000	0.89809	1.960000	0.56953	0.483000	0.47432	TTC		0.463	PDZD11-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057060.1	NM_016484		15	19	0	0	0	0	15	19				
SLC6A8	6535	broad.mit.edu	37	X	152956769	152956769	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chrX:152956769C>T	ENST00000253122.5	+	3	881	c.405C>T	c.(403-405)taC>taT	p.Y135Y	SLC6A8_ENST00000430077.2_Silent_p.Y20Y	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	135					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCCTGGGCTACGCCTCCATGG	0.602																																						uc004fib.3		NA																	0				pancreas(1)	1						c.(403-405)TAC>TAT		solute carrier family 6 member 8 isoform 1	Creatine(DB00148)						43.0	35.0	38.0					X																	152956769		2193	4291	6484	SO:0001819	synonymous_variant	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152956769C>T		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.405C>T	X.37:g.152956769C>T						SLC6A8_uc004fic.3_Silent_p.Y135Y|SLC6A8_uc011myx.1_Silent_p.Y20Y|SLC6A8_uc010nuj.2_5'Flank|SLC6A8_uc010nui.1_Silent_p.Y20Y	p.Y135Y	NM_005629	NP_005620	P48029	SC6A8_HUMAN			3	683	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		135			Cytoplasmic (Potential).		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	c.405C>T	CCDS14726.1																																																																																				0.602	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			3	25	0	0	0	0	3	25				
LRRC40	55631	broad.mit.edu	37	1	70614215	70614215	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:70614215delT	ENST00000370952.3	-	14	1737	c.1658delA	c.(1657-1659)gacfs	p.D553fs		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	553						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TTGTAAGAGGTCATTATTTTG	0.353																																						uc001der.1		NA																	0				ovary(1)	1						c.(1657-1659)GACfs		leucine rich repeat containing 40							198.0	198.0	198.0					1																	70614215		2203	4300	6503	SO:0001589	frameshift_variant	55631							g.chr1:70614215delT		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1658delA	1.37:g.70614215delT	ENSP00000359990:p.Asp553fs						p.D553fs	NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN			14	1710	-			553			LRR 19.		Q9BTR7|Q9NSK1|Q9NXC1	Frame_Shift_Del	DEL	ENST00000370952.3	37	c.1658delA	CCDS646.1																																																																																				0.353	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		133	279	NA	NA	NA	NA	133	279	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55653610	55653610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:55653610delA	ENST00000449290.2	+	3	515	c.423delA	c.(421-423)ctafs	p.L141fs	TRIM51_ENST00000244891.3_5'UTR	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	141						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGGAGCTCCTAAAAAAAATGC	0.403																																						uc010rip.1		NA																	0					0						c.(421-423)CTAfs		SPRY domain containing 5				1,23,4240		0,0,1,10,3,2118	50.0	47.0	48.0				0.0	11		48	1,23,8230		0,0,1,8,7,4111	no	codingComplex	SPRYD5	NM_032681.3		0,0,2,18,10,6229	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2908,0.5629,0.3834			55653610	2,46,12470	692	1591	2283	SO:0001589	frameshift_variant	84767					intracellular	zinc ion binding	g.chr11:55653610delA	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.423delA	11.37:g.55653610delA	ENSP00000395086:p.Leu141fs					SPRYD5_uc010riq.1_5'UTR	p.L141fs	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			3	515	+		all_epithelial(135;0.226)	141					A6NMG2	Frame_Shift_Del	DEL	ENST00000449290.2	37	c.423delA																																																																																					0.403	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		19	82	NA	NA	NA	NA	19	82	---	---	---	---
ZNF549	256051	broad.mit.edu	37	19	58048899	58048900	+	Frame_Shift_Del	DEL	CT	CT	-	rs199808290		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:58048899_58048900delCT	ENST00000376233.3	+	4	708_709	c.527_528delCT	c.(526-528)cctfs	p.P176fs	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Frame_Shift_Del_p.P163fs|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(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)		TGCAAAATTCCTCTGTCAGACA	0.475																																						uc002qpb.1		NA																	0				ovary(1)	1						c.(526-528)CCTfs		zinc finger protein 549																																				SO:0001589	frameshift_variant	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58048899_58048900delCT	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.527_528delCT	19.37:g.58048901_58048902delCT	ENSP00000365407:p.Pro176fs					ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Frame_Shift_Del_p.P163fs	p.P176fs	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	776_777	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	176					B3KV91|O43336|Q8NAR4	Frame_Shift_Del	DEL	ENST00000376233.3	37	c.527_528delCT	CCDS56106.1																																																																																				0.475	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		27	59	NA	NA	NA	NA	27	59	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452301	43452302	+	Frame_Shift_Ins	INS	-	-	T	rs374579745		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:43452301_43452302insT	ENST00000282388.3	-	2	934_935	c.641_642insA	c.(640-642)ttcfs	p.F214fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	214					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGTTGTGGATGAAGTGGCAGCG	0.693																																						uc002rsv.3		NA																	0					0						c.(640-642)TTCfs		zinc finger protein 36, C3H type-like 2																																				SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452301_43452302insT	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.641_642insA	2.37:g.43452301_43452302insT	ENSP00000282388:p.Phe214fs					LOC100129726_uc010ynx.1_5'Flank	p.F214fs	NM_006887	NP_008818	P47974	TISD_HUMAN			2	932_933	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	214			C3H1-type 2.		Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	c.641_642insA	CCDS1811.1																																																																																				0.693	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		11	21	NA	NA	NA	NA	11	21	---	---	---	---
EEF1A2	1917	broad.mit.edu	37	20	62126260	62126264	+	Frame_Shift_Del	DEL	TTCCT	TTCCT	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:62126260_62126264delTTCCT	ENST00000298049.7	-	3	585_589	c.515_519delAGGAA	c.(514-519)aaggaafs	p.KE172fs	EEF1A2_ENST00000217182.3_Frame_Shift_Del_p.KE172fs			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	172	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			AGGCGCTGACTTCCTTGACGATCTC	0.605																																						uc002yfd.1		NA																	0					0						c.(514-519)AAGGAAfs		eukaryotic translation elongation factor 1 alpha																																				SO:0001589	frameshift_variant	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62126260_62126264delTTCCT	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.515_519delAGGAA	20.37:g.62126260_62126264delTTCCT	ENSP00000298049:p.Lys172fs					EEF1A2_uc002yfe.1_Frame_Shift_Del_p.K172fs|EEF1A2_uc010gkg.1_Frame_Shift_Del_p.K172fs	p.K172fs	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		3	616_620	-	all_cancers(38;9.45e-12)		172_173					B5BUF3|E1P5J1|P54266|Q0VGC7	Frame_Shift_Del	DEL	ENST00000298049.7	37	c.515_519delAGGAA	CCDS13522.1																																																																																				0.605	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		14	147	NA	NA	NA	NA	14	147	---	---	---	---
TGFBR2	7048	broad.mit.edu	37	3	30691918	30691920	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:30691918_30691920delTGA	ENST00000295754.5	+	3	802_804	c.420_422delTGA	c.(418-423)tctgat>tct	p.D141del	TGFBR2_ENST00000359013.4_In_Frame_Del_p.D166del	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	141					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCTGTAGCTCTGATGAGTGCAAT	0.419																																						uc003ceo.2		NA																	0				pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(418-423)TCTGAT>TCT		transforming growth factor, beta receptor II																																				SO:0001651	inframe_deletion	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30691918_30691920delTGA		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.420_422delTGA	3.37:g.30691921_30691923delTGA	ENSP00000295754:p.Asp141del					TGFBR2_uc003cen.2_In_Frame_Del_p.D166del	p.D141del	NM_003242	NP_003233	P37173	TGFR2_HUMAN			3	802_804	+			141			Extracellular (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	In_Frame_Del	DEL	ENST00000295754.5	37	c.420_422delTGA	CCDS2648.1																																																																																				0.419	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			61	101	NA	NA	NA	NA	61	101	---	---	---	---
C3orf52	79669	broad.mit.edu	37	3	111812254	111812260	+	Frame_Shift_Del	DEL	AAGATGC	AAGATGC	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:111812254_111812260delAAGATGC	ENST00000264848.5	+	2	245_251	c.186_192delAAGATGC	c.(184-192)ggaagatgcfs	p.GRC62fs	C3orf52_ENST00000431717.2_Frame_Shift_Del_p.GRC62fs|C3orf52_ENST00000430855.1_Frame_Shift_Del_p.GRC62fs	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	62						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						ATGTGGTTGGAAGATGCAAACTGTGGA	0.435																																						uc003dyq.3		NA																	0					0						c.(184-192)GGAAGATGCfs		TPA-induced transmembrane protein																																				SO:0001589	frameshift_variant	79669					endoplasmic reticulum membrane|integral to membrane		g.chr3:111812254_111812260delAAGATGC	AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"""TPA induced trans-membrane protein"""	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.186_192delAAGATGC	3.37:g.111812254_111812260delAAGATGC	ENSP00000264848:p.Gly62fs					C3orf52_uc011bhs.1_Frame_Shift_Del_p.G62fs|C3orf52_uc011bht.1_Frame_Shift_Del_p.G62fs	p.G62fs	NM_024616	NP_078892	Q5BVD1	TTMP_HUMAN			2	259_265	+			62_64					B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Frame_Shift_Del	DEL	ENST00000264848.5	37	c.186_192delAAGATGC	CCDS46887.1																																																																																				0.435	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353961.1	NM_024616		46	170	NA	NA	NA	NA	46	170	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187549454	187549454	+	Frame_Shift_Del	DEL	G	G	-	rs201060026		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:187549454delG	ENST00000441802.2	-	9	4873	c.4664delC	c.(4663-4665)acgfs	p.T1555fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1555	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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						GTGGTCATTCGTGTCGCTGAC	0.502										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(4663-4665)ACGfs		FAT tumor suppressor 1 precursor							59.0	61.0	60.0					4																	187549454		2086	4219	6305	SO:0001589	frameshift_variant	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.chr4:187549454delG	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.4664delC	4.37:g.187549454delG	ENSP00000406229:p.Thr1555fs	HNSCC(5;0.00058)					p.T1555fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			9	4852	-			1555			Extracellular (Potential).|Cadherin 13.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.4664delC	CCDS47177.1																																																																																				0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		15	24	NA	NA	NA	NA	15	24	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187557332	187557333	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:187557332_187557333insA	ENST00000441802.2	-	6	4238_4239	c.4029_4030insT	c.(4027-4032)attgaafs	p.E1344fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1344	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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						GAGATCCATTCAATATGGAGTC	0.441										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(4027-4032)ATTGAAfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	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.chr4:187557332_187557333insA	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.4030dupT	4.37:g.187557334_187557334dupA	ENSP00000406229:p.Glu1344fs	HNSCC(5;0.00058)					p.I1343fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			6	4217_4218	-			1343_1344			Extracellular (Potential).|Cadherin 11.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.4029_4030insT	CCDS47177.1																																																																																				0.441	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		35	81	NA	NA	NA	NA	35	81	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150924382	150924382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:150924382delA	ENST00000261800.5	-	9	6318	c.6306delT	c.(6304-6306)aatfs	p.N2102fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2102	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAACAGCCCCATTTGTCCCCA	0.428																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(6304-6306)AATfs		FAT tumor suppressor 2 precursor							123.0	129.0	127.0					5																	150924382		2203	4300	6503	SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924382delA	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6306delT	5.37:g.150924382delA	ENSP00000261800:p.Asn2102fs					GM2A_uc011dcs.1_Intron	p.N2102fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6319	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2102			Extracellular (Potential).|Cadherin 18.		O75091|Q9NSR7	Frame_Shift_Del	DEL	ENST00000261800.5	37	c.6306delT	CCDS4317.1																																																																																				0.428	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		86	90	NA	NA	NA	NA	86	90	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124384892	124384893	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:124384892_124384893insT	ENST00000287394.5	-	3	461_462	c.354_355insA	c.(352-357)aaagaafs	p.E119fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	119					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E119fs*8(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGTGCTCTTCTTTTTTTTTAT	0.267																																						uc003yqh.3		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	ovary(2)	2						c.(352-357)AAAGAAfs		ATPase family, AAA domain containing 2																																				SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124384892_124384893insT	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.355dupA	8.37:g.124384901_124384901dupT	ENSP00000287394:p.Glu119fs					ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Frame_Shift_Ins_p.K118fs	p.K118fs	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		3	462_463	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		118_119					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Ins	INS	ENST00000287394.5	37	c.354_355insA	CCDS6343.1																																																																																				0.267	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		21	260	NA	NA	NA	NA	21	260	---	---	---	---
C9orf117	286207	broad.mit.edu	37	9	130475482	130475482	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:130475482delT	ENST00000373295.2	+	8	1528	c.1488delT	c.(1486-1488)cctfs	p.P496fs	TTC16_ENST00000393748.4_5'Flank|PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000373289.3_5'Flank|C9orf117_ENST00000464092.1_Intron|C9orf117_ENST00000373293.5_Intron	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	496										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ACAGCAGCCCTGAGGTGAGGG	0.647																																						uc004brn.1		NA																	0					0						c.(1486-1488)CCTfs		hypothetical protein LOC286207							20.0	21.0	21.0					9																	130475482		1932	4116	6048	SO:0001589	frameshift_variant	286207							g.chr9:130475482delT	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.1488delT	9.37:g.130475482delT	ENSP00000362392:p.Pro496fs					PTRH1_uc004brm.2_Intron|C9orf117_uc010mxl.1_RNA|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank	p.P496fs	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN			8	1528	+			496					A5D8T9	Frame_Shift_Del	DEL	ENST00000373295.2	37	c.1488delT	CCDS43878.1																																																																																				0.647	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	NM_001012502		34	47	NA	NA	NA	NA	34	47	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54209173	54209190	+	In_Frame_Del	DEL	CAGCGCTGACAAGTAGCC	CAGCGCTGACAAGTAGCC	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chrX:54209173_54209190delCAGCGCTGACAAGTAGCC	ENST00000375180.2	-	1	498_515	c.442_459delGGCTACTTGTCAGCGCTG	c.(442-459)ggctacttgtcagcgctgdel	p.GYLSAL148del	FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000477084.1_In_Frame_Del_p.GYLSAL148del|FAM120C_ENST00000328235.4_In_Frame_Del_p.GYLSAL148del	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	148							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGCCTGGCACAGCGCTGACAAGTAGCCCAGCATGGCG	0.711																																						uc004dsz.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(442-459)GGCTACTTGTCAGCGCTGdel		hypothetical protein LOC54954																																				SO:0001651	inframe_deletion	54954							g.chrX:54209173_54209190delCAGCGCTGACAAGTAGCC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.442_459delGGCTACTTGTCAGCGCTG	X.37:g.54209173_54209190delCAGCGCTGACAAGTAGCC	ENSP00000364324:p.Gly148_Leu153del					FAM120C_uc011moh.1_In_Frame_Del_p.GYLSAL148del|FAM120C_uc004dta.2_In_Frame_Del_p.GYLSAL148del	p.GYLSAL148del	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			1	525_542	-			148_153					B2RMT7	In_Frame_Del	DEL	ENST00000375180.2	37	c.442_459delGGCTACTTGTCAGCGCTG	CCDS14356.1																																																																																				0.711	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		7	18	NA	NA	NA	NA	7	18	---	---	---	---
